Charis Eng
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Singapore-born physician and geneticist
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(Suggest an Edit or Addition)According to Wikipedia, Charis Eng is a Singapore-born physician-scientist and geneticist at the Cleveland Clinic, notable for identifying the PTEN gene. She is the Chairwoman and founding Director of the Genomic Medicine Institute of the Cleveland Clinic, founding Director and attending clinical cancer geneticist of the institute’s clinical component, the Center for Personalized Genetic Healthcare, and Professor and Vice Chairwoman of the Department of Genetics and Genome Sciences at Case Western Reserve University School of Medicine.
Charis Eng's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome (1997) (2061)
- Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A (1993) (1850)
- Clinical whole-exome sequencing for the diagnosis of mendelian disorders. (2013) (1706)
- Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics (2016) (1319)
- Medullary thyroid cancer: management guidelines of the American Thyroid Association. (2009) (1214)
- Molecular findings among patients referred for clinical whole-exome sequencing. (2014) (1163)
- Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease. (2001) (1110)
- The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. (1996) (1094)
- Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. (2001) (1059)
- Chromosomal microarray versus karyotyping for prenatal diagnosis. (2012) (989)
- Essential Role for Nuclear PTEN in Maintaining Chromosomal Integrity (2007) (943)
- Catalytic specificity of protein-tyrosine kinases is critical for selective signalling (1995) (916)
- Germ-line mutations in nonsyndromic pheochromocytoma. (2002) (892)
- Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. (2004) (870)
- P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase. (1997) (819)
- PTEN: One Gene, Many Syndromes (2003) (802)
- Lifetime Cancer Risks in Individuals with Germline PTEN Mutations (2012) (719)
- Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations (2005) (716)
- Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. (1998) (661)
- Germline mutations in PTEN are present in Bannayan-Zonana syndrome (1997) (654)
- Genetic/familial high-risk assessment: breast and ovarian. (2010) (648)
- Localization of the gene for Cowden disease to chromosome 10q22–23 (1996) (641)
- Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC (1994) (632)
- PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. (1999) (570)
- Salpingo-Oophorectomy and the Risk Of Ovarian, Fallopian Tube, and Peritoneal Cancers in Women With a BRCA1 or BRCA2 Mutation (2006) (566)
- Will the real Cowden syndrome please stand up: revised diagnostic criteria (2000) (534)
- A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) (2006) (504)
- Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation (2017) (499)
- Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. (1994) (491)
- Loss-of-Function Mutations in PPARγ Associated with Human Colon Cancer (1999) (486)
- Gene expression in papillary thyroid carcinoma reveals highly consistent profiles (2001) (468)
- Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. (2008) (465)
- Protean PTEN: form and function. (2002) (465)
- Implementing genomic medicine in the clinic: the future is here (2013) (463)
- Effects of ligand activation of peroxisome proliferator-activated receptor gamma in human prostate cancer. (2000) (458)
- Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome) (1996) (438)
- Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD (2008) (438)
- Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer (2000) (430)
- Frequent somatic mutations in PTEN and TP53 are mutually exclusive in the stroma of breast carcinomas (2002) (425)
- Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. (2003) (413)
- Validation of proposed DSM-5 criteria for autism spectrum disorder. (2012) (400)
- A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. (2001) (386)
- Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement (2006) (384)
- A role for mitochondrial enzymes in inherited neoplasia and beyond (2003) (381)
- Direct evidence for epithelial-mesenchymal transitions in breast cancer. (2008) (372)
- An atypical variant of Fabry's disease with manifestations confined to the myocardium. (1991) (371)
- PTEN mutations in gliomas and glioneuronal tumors (1998) (366)
- Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. (2004) (365)
- Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease. (1996) (358)
- Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. (2016) (351)
- A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. (2011) (342)
- Highly penetrant hereditary cancer syndromes (2004) (342)
- RET proto-oncogene in the development of human cancer. (1999) (337)
- Mortality From Second Tumors Among Long-Term Survivors of Retinoblastoma (1993) (333)
- PTEN hamartoma tumor syndrome: An overview (2009) (327)
- Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. (2005) (326)
- Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. (1995) (326)
- Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome (2004) (317)
- A limited set of human MicroRNA is deregulated in follicular thyroid carcinoma. (2006) (310)
- Hamartomatous polyposis syndromes (2007) (305)
- Breast-cancer stromal cells with TP53 mutations and nodal metastases. (2007) (304)
- Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management (2017) (303)
- Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry (2007) (300)
- APC-dependent suppression of colon carcinogenesis by PPARγ (2002) (298)
- Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. (2000) (296)
- Fabry disease revisited: Management and treatment recommendations for adult patients. (2018) (296)
- Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. (2003) (293)
- Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors. (1997) (292)
- PTEN is inversely correlated with the cell survival factor Akt/PKB and is inactivated via multiple mechanismsin haematological malignancies. (1999) (291)
- The nuclear affairs of PTEN (2008) (290)
- Mortality from second tumors among long-term survivors of retinoblastoma. (1993) (287)
- Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome) (2008) (283)
- PTEN suppresses breast cancer cell growth by phosphatase activity-dependent G1 arrest followed by cell death. (1999) (274)
- New insights into genetic susceptibility of COVID-19: an ACE2 and TMPRSS2 polymorphism analysis (2020) (269)
- Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. (2010) (259)
- Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males (2006) (259)
- A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC. (1995) (259)
- Genotype‐phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium (1995) (259)
- Frequent loss of PTEN expression is linked to elevated phosphorylated Akt levels, but not associated with p27 and cyclin D1 expression, in primary epithelial ovarian carcinomas. (2001) (259)
- From developmental disorder to heritable cancer: it's all in the BMP/TGF-β family (2003) (255)
- Cancer phenomics: RET and PTEN as illustrative models (2007) (255)
- Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. (2001) (255)
- Excessive CpG island hypermethylation in cancer cell lines versus primary human malignancies. (2001) (253)
- Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. (1994) (252)
- Germline SDHD mutation in familial phaeochromocytoma (2001) (250)
- Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. (2005) (243)
- PTEN coordinates G1 arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer model (2001) (240)
- PTEN induces apoptosis and cell cycle arrest through phosphoinositol-3-kinase/Akt-dependent and -independent pathways. (2001) (240)
- Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry (2008) (234)
- The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. (2001) (234)
- Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients. (1998) (234)
- Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. (1997) (232)
- Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. (1993) (227)
- Analysis of PTEN and the 10q23 region in primary prostate carcinomas (1998) (226)
- Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations inMSH2 and MLH1 (2000) (223)
- Hypomethylation of noncoding DNA regions and overexpression of the long noncoding RNA, AFAP1-AS1, in Barrett's esophagus and esophageal adenocarcinoma. (2013) (222)
- Mutations of the RET proto‐oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease (1997) (221)
- Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. (2008) (217)
- Somatic mutations in the RET proto‐oncogene in sporadic medullary thyroid carcinoma (1996) (215)
- Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease (1996) (215)
- Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes (2001) (213)
- Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis (2016) (212)
- SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research (2018) (206)
- Mapping Geographic Zones of Cancer Risk with Epigenetic Biomarkers in Normal Breast Tissue (2006) (204)
- Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases (2009) (200)
- Genetic model of multi-step breast carcinogenesis involving the epithelium and stroma: clues to tumour-microenvironment interactions. (2001) (199)
- Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease (2018) (199)
- Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders (2017) (198)
- PTEN inhibits insulin-stimulated MEK/MAPK activation and cell growth by blocking IRS-1 phosphorylation and IRS-1/Grb-2/Sos complex formation in a breast cancer model. (2001) (195)
- Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. (2000) (195)
- Nuclear-cytoplasmic partitioning of phosphatase and tensin homologue deleted on chromosome 10 (PTEN) differentially regulates the cell cycle and apoptosis. (2005) (194)
- Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. (2003) (189)
- Nuclear PTEN expression and clinicopathologic features in a population‐based series of primary cutaneous melanoma (2002) (183)
- PTEN mutational spectra, expression levels, and subcellular localization in microsatellite stable and unstable colorectal cancers. (2002) (183)
- Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. (2013) (181)
- Multiple endocrine neoplasia type 2: An overview (2011) (180)
- Risk and penetrance of primary hyperparathyroidism in multiple endocrine neoplasia type 2A families with mutations at codon 634 of the RET proto-oncogene. Groupe D'etude des Tumeurs à Calcitonine. (1998) (180)
- A Meta-Analysis of Gaze Differences to Social and Nonsocial Information Between Individuals With and Without Autism. (2017) (179)
- Lessons learned from additional research analyses of unsolved clinical exome cases (2017) (179)
- Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency (2013) (177)
- Characterization of RET proto-oncogene 3' splicing variants and polyadenylation sites: a novel C-terminus for RET. (1995) (177)
- Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome (2011) (177)
- Molecular Diagnostic Experience of Whole-Exome Sequencing in Adult Patients (2015) (176)
- Somatic mitochondrial DNA (mtDNA) mutations in papillary thyroid carcinomas and differential mtDNA sequence variants in cases with thyroid tumours (2000) (175)
- Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. (1995) (173)
- Bilateral Oophorectomy and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers (2017) (171)
- Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization (2006) (169)
- Mutation of the RET protooncogene in sporadic medullary thyroid carcinoma (1995) (168)
- Multidisciplinary Management of Hunter Syndrome (2009) (167)
- Loss-of-function mutations in PPAR gamma associated with human colon cancer. (1999) (166)
- The pressure rises: update on the genetics of phaeochromocytoma. (2002) (165)
- Heterogeneous mutation of the RET proto-oncogene in subpopulations of medullary thyroid carcinoma. (1996) (164)
- Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors. (2004) (163)
- Specific polymorphisms in the RETproto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression (1999) (163)
- Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome. (2010) (161)
- Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. (2011) (161)
- Referral for cancer genetics consultation: a review and compilation of risk assessment criteria (2004) (160)
- Familial risks for nonmedullary thyroid cancer. (2005) (160)
- Clinical Predictors and Algorithm for the Genetic Diagnosis of Pheochromocytoma Patients (2009) (159)
- Next-Generation Sequencing to Diagnose Suspected Genetic Disorders. (2018) (159)
- Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing lynch syndrome in a large academic medical center. (2013) (157)
- Germline PTEN mutations in Cowden syndrome-like families. (1998) (157)
- Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications. (1993) (156)
- Papillary and follicular thyroid carcinomas show distinctly different microarray expression profiles and can be distinguished by a minimum of five genes. (2004) (156)
- Phosphatase and tensin homologue deleted on chromosome 10 (PTEN) has nuclear localization signal-like sequences for nuclear import mediated by major vault protein. (2005) (155)
- PTEN coordinates G(1) arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer model. (2001) (155)
- Genetics of Cowden syndrome: through the looking glass of oncology. (1998) (154)
- Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation (1999) (151)
- Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. (1998) (151)
- PTEN mutations are common in sporadic microsatellite stable colorectal cancer (2004) (151)
- PTEN/MMAC1/TEP1 involvement in primary prostate cancers (1998) (149)
- Pheochromocytoma and Paraganglioma. (2019) (149)
- Combined Total Genome Loss of Heterozygosity Scan of Breast Cancer Stroma and Epithelium Reveals Multiplicity of Stromal Targets (2004) (147)
- From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family. (2003) (147)
- Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations inBRCA1 (2001) (147)
- Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. (1989) (145)
- Reanalysis of Clinical Exome Sequencing Data. (2019) (145)
- Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing. (1999) (145)
- RASSF1A promoter region CpG island hypermethylation in phaeochromocytomas and neuroblastoma tumours (2001) (145)
- Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. (2009) (144)
- Genetic classification of benign and malignant thyroid follicular neoplasia based on a three-gene combination. (2005) (141)
- Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors. (2007) (140)
- RET activation by germline MEN2A and MEN2B mutations. (1995) (140)
- Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention (2017) (140)
- Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy (2013) (136)
- Male breast cancer in Cowden syndrome patients with germlinePTEN mutations (2001) (136)
- A Novel Germline Mutation in BAP1 Predisposes to Familial Clear-Cell Renal Cell Carcinoma (2013) (136)
- The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases. (1997) (135)
- Target identification among known drugs by deep learning from heterogeneous networks (2020) (134)
- Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA (2019) (134)
- Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. (2016) (134)
- Defining Phenotypes and Cancer Risk in Hyperplastic Polyposis Syndrome (2011) (133)
- Increased nuclear phosphatase and tensin homologue deleted on chromosome 10 is associated with G0-G1 in MCF-7 cells. (2003) (132)
- Familiality in Barrett's Esophagus, Adenocarcinoma of the Esophagus, and Adenocarcinoma of the Gastroesophageal Junction (2006) (130)
- Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome (2008) (129)
- Fabry Disease: Thirty-Five Mutations in the α-Galactosidase A Gene in Patients with Classic and Variant Phenotypes (1997) (128)
- Analysis of genetic and phenotypic heterogeneity in juvenile polyposis (2000) (128)
- Analysis of the 10q23 chromosomal region and the PTEN gene in human sporadic breast carcinoma (1999) (127)
- De Novo Mutation of GDNF, Ligand for the RET/GDNFR-α Receptor Complex, in Hirschsprung Disease (1996) (127)
- Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. (2006) (125)
- Gene expression profiling identifies MMP-12 and ADAMDEC1 as potential pathogenic mediators of pulmonary sarcoidosis. (2009) (125)
- Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study (2013) (124)
- Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice. (2015) (123)
- A genome-wide positioning systems network algorithm for in silico drug repurposing (2019) (122)
- Molecular basis of fabry disease: Mutations and polymorphisms in the human α‐galactosidase A gene (1994) (122)
- Molecular and Phenotypic Abnormalities in Individuals with Germline Heterozygous PTEN Mutations and Autism (2014) (121)
- Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL. (1997) (121)
- Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. (2007) (121)
- Increased PTEN expression due to transcriptional activation of PPARγ by Lovastatin and Rosiglitazone (2006) (121)
- Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. (2000) (119)
- Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment (2009) (118)
- Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing (2013) (117)
- BMP2 exposure results in decreased PTEN protein degradation and increased PTEN levels. (2003) (117)
- Genomic instability within tumor stroma and clinicopathological characteristics of sporadic primary invasive breast carcinoma. (2007) (116)
- Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel (2018) (115)
- Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10 (2011) (115)
- The ERK1/2 pathway modulates nuclear PTEN-mediated cell cycle arrest by cyclin D1 transcriptional regulation. (2006) (114)
- ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation (2018) (114)
- Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome. (2016) (113)
- Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma. (2011) (113)
- High frequency of submicroscopic hemizygous deletion is a major mechanism of loss of expression of PTEN in uveal melanoma. (2006) (112)
- Allelic imbalance, including deletion of PTEN/MMAC1, at the Cowden disease locus on 10q22‐23, in hamartomas from patients with cowden syndrome and germline PTEN mutation (1998) (112)
- Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene. (1994) (111)
- Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study. (2014) (111)
- Breastfeeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers (2012) (111)
- Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy? (1994) (110)
- Subtypes of familial breast tumours revealed by expression and copy number profiling (2010) (110)
- Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Le Groupe d'Etude des Tumeurs a Calcitonine. (1997) (109)
- Silencing of the PTEN tumor‐suppressor gene in anaplastic thyroid cancer (2002) (109)
- An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome. (2003) (109)
- A novel germline mutation of the PTENgene in a patient with macrocephaly, ventricular dilatation, and features of VATER association (2001) (109)
- Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. (1995) (109)
- A Multi-Institutional Phase II Study of the Efficacy and Tolerability of Lapatinib in Patients with Advanced Hepatocellular Carcinomas (2009) (108)
- Breast tissue, oral and urinary microbiomes in breast cancer (2017) (108)
- Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (1998) (107)
- Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease. (1996) (107)
- The Clinical Spectrum of PTEN Mutations. (2020) (107)
- Differential expression of PTEN-targeting microRNAs miR-19a and miR-21 in Cowden syndrome. (2008) (106)
- Resveratrol enhances the anti-tumor activity of the mTOR inhibitor rapamycin in multiple breast cancer cell lines mainly by suppressing rapamycin-induced AKT signaling. (2011) (106)
- Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation (2008) (106)
- PTEN-opathies: from biological insights to evidence-based precision medicine. (2019) (106)
- A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma. (2003) (106)
- Loss of Expression of Protein Kinase A Regulatory Subunit 1α in Pigmented Epithelioid Melanocytoma But Not in Melanoma or Other Melanocytic Lesions (2007) (106)
- Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53 (2011) (106)
- Cowden syndrome: Recognizing and managing a not‐so‐rare hereditary cancer syndrome (2015) (105)
- Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites. (2011) (105)
- Targeted therapy for uveal melanoma. (2008) (103)
- Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility (2003) (103)
- Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. (2009) (103)
- Genetic testing: The problems and the promise (1997) (103)
- Long-term prognosis of patients with pediatric pheochromocytoma. (2013) (102)
- A network medicine approach to investigation and population-based validation of disease manifestations and drug repurposing for COVID-19 (2020) (102)
- RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease (2000) (101)
- Frequent epigenetic inactivation of the SLIT2 gene in gliomas (2003) (101)
- Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas. (2000) (100)
- A Twin Study of Heritable and Shared Environmental Contributions to Autism (2014) (100)
- PTEN autoregulates its expression by stabilization of p53 in a phosphatase-independent manner. (2006) (100)
- Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium (2013) (99)
- A highly conserved processed PTEN pseudogene is located on chromosome band 9p21 (1998) (99)
- Implementation of tumor testing for lynch syndrome in endometrial cancers at a large academic medical center. (2013) (99)
- Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder (2018) (98)
- Total-genome analysis of BRCA1/2-related invasive carcinomas of the breast identifies tumor stroma as potential landscaper for neoplastic initiation. (2006) (98)
- Microenvironmental genomic alterations and clinicopathological behavior in head and neck squamous cell carcinoma. (2007) (97)
- Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. (1997) (97)
- Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. (1995) (97)
- Pilot Study of Rosiglitazone Therapy in Women with Breast Cancer: Effects of Short-term Therapy on Tumor Tissue and Serum Markers (2007) (96)
- Intestinal ganglioneuromatosis and multiple endocrine neoplasia type 2B: implications for treatment (1999) (95)
- Gastroesophageal reflux symptoms in patients with adenocarcinoma of the esophagus or cardia (2006) (94)
- Pulmonary involvement in Fabry disease. (1997) (94)
- Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype. (1998) (93)
- PTEN and inherited hamartoma-cancer syndromes (1998) (93)
- Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array‐comparative genomic hybridization (2008) (93)
- Differential regulation of PTEN expression by androgen receptor in prostate and breast cancers (2011) (92)
- Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. (2014) (91)
- Transient ectopic expression of PTEN in thyroid cancer cell lines induces cell cycle arrest and cell type-dependent cell death. (2001) (91)
- Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model (2011) (90)
- Resveratrol regulates the PTEN/AKT pathway through androgen receptor-dependent and -independent mechanisms in prostate cancer cell lines (2010) (90)
- Evidence of MEN-2 in the original description of classic pheochromocytoma. (2007) (90)
- Caveolin-1 and caveolin-2,together with three bone morphogenetic protein-related genes, may encode novel tumor suppressors down-regulated in sporadic follicular thyroid carcinogenesis. (2003) (89)
- Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma. (2004) (88)
- Implementation of Clinical Pharmacogenomics within a Large Health System: From Electronic Health Record Decision Support to Consultation Services (2016) (88)
- Tumor suppressor activity of CCAAT/enhancer binding protein alpha is epigenetically down-regulated in head and neck squamous cell carcinoma. (2007) (87)
- The Urinary Microbiome Differs Significantly Between Patients With Chronic Prostatitis/Chronic Pelvic Pain Syndrome and Controls as Well as Between Patients With Different Clinical Phenotypes. (2016) (87)
- Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes (2004) (86)
- Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives (2008) (85)
- The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome (2001) (85)
- Twenty Novel Mutations in the α-Galactosidase A Gene Causing Fabry Disease (1999) (85)
- Nuclear localization of PTEN is regulated by Ca(2+) through a tyrosil phosphorylation-independent conformational modification in major vault protein. (2006) (84)
- Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation. (2007) (83)
- Expression of the PTEN tumour suppressor protein during human development. (2000) (83)
- PTEN Hamartoma of Soft Tissue: A Distinctive Lesion in PTEN Syndromes (2012) (83)
- Familial Barrett esophagus and adenocarcinoma of the gastroesophageal junction. (1993) (83)
- Molecular classification of the inherited hamartoma polyposis syndromes: clearing the muddied waters. (1998) (83)
- Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. (2016) (83)
- Phytoestrogen exposure elevates PTEN levels. (2005) (83)
- Microbiomic differences in tumor and paired-normal tissue in head and neck squamous cell carcinomas (2017) (82)
- Ret in human development and oncogenesis (1997) (82)
- Molecular analysis of two putative tumour suppressor genes, PTEN and DMBT, which have been implicated in glioblastoma multiforme disease progression (1998) (82)
- Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population. (1998) (81)
- Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany. (2013) (81)
- Mammalian target of rapamycin (mTOR) regulates cellular proliferation and tumor growth in urothelial carcinoma. (2010) (81)
- Germline sequence variant S836S in the RET proto‐oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population (2001) (80)
- Distinct PTEN mutational spectra in hereditary non-polyposis colon cancer syndrome-related endometrial carcinomas compared to sporadic microsatellite unstable tumors. (2002) (80)
- Coffee consumption and breast cancer risk among BRCA1 and BRCA2 mutation carriers (2006) (80)
- When Overgrowth Bumps Into Cancer: The PTEN‐Opathies (2013) (80)
- PTEN blocks insulin-mediated ETS-2 phosphorylation through MAP kinase, independently of the phosphoinositide 3-kinase pathway. (2002) (79)
- Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. (2014) (78)
- International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation (2019) (78)
- Prenatal genetic carrier testing using triple disease screening. (1997) (78)
- Unregulated smooth-muscle myosin in human intestinal neoplasia (2008) (77)
- Differential expression of novel naturally occurring splice variants of PTEN and their functional consequences in Cowden syndrome and sporadic breast cancer. (2006) (76)
- GI Polyposis and Glycogenic Acanthosis of the Esophagus Associated With PTEN Mutation Positive Cowden Syndrome in the Absence of Cutaneous Manifestations (2003) (76)
- Timing of oral contraceptive use and the risk of breast cancer in BRCA1 mutation carriers (2014) (75)
- Bacteriome and mycobiome associations in oral tongue cancer (2017) (75)
- Autism Spectrum Disorders as a Qualitatively Distinct Category From Typical Behavior in a Large, Clinically Ascertained Sample (2010) (74)
- Genetic testing for cancer predisposition. (2001) (74)
- Molecular characterisation of a common SDHB deletion in paraganglioma patients (2007) (74)
- The approach to the patient with paraganglioma. (2009) (74)
- A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children (2017) (74)
- Breast cancer risk and clinical implications for germline PTEN mutation carriers (2017) (74)
- Germline mutations in PTEN are an infrequent cause of genetic predisposition to breast cancer (1998) (73)
- RET proto-oncogene mutations in multiple endocrine neoplasia type 2 and medullary thyroid carcinoma. (1997) (72)
- Screening SMAD1,SMAD2, SMAD3, andSMAD5 for germline mutations in juvenile polyposis syndrome (1999) (72)
- Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly (2013) (72)
- Whole-Exome Sequencing in the molecular diagnosis of individuals with congenital anomalies of kidney and urinary tract and identification of a new causative gene (2016) (71)
- Novel germline CDH1 mutations in hereditary diffuse gastric cancer families (2002) (71)
- POGZ truncating alleles cause syndromic intellectual disability (2016) (70)
- Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency. (1994) (70)
- Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. (2010) (70)
- Differential loss of heterozygosity in the region of the Cowden locus within 10q22-23 in follicular thyroid adenomas and carcinomas. (1997) (69)
- Familial papillary thyroid cancer--many syndromes, too many genes? (2000) (69)
- Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome. (2012) (69)
- Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome. (2007) (69)
- Allele-specific tumor spectrum in Pten knockin mice (2010) (69)
- Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma [4] (1997) (67)
- Analysis of Gut Microbiome Reveals Significant Differences between Men with Chronic Prostatitis/Chronic Pelvic Pain Syndrome and Controls. (2016) (67)
- Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. (2012) (66)
- Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes (2019) (66)
- Adrenal and extra-adrenal pheochromocytomas in a family with germline RET V804L mutation. (1999) (66)
- Loss of heterozygosity in human breast carcinomas in the ataxia telangiectasia, Cowden disease and BRCA1 gene regions (1997) (66)
- A bird's eye view of global methylation (2000) (66)
- Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome (2012) (65)
- Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease. (1998) (65)
- Comprehensive characterization of protein–protein interactions perturbed by disease mutations (2021) (63)
- Balancing Proliferation and Connectivity in PTEN-associated Autism Spectrum Disorder (2015) (63)
- Frequency of germline PTEN mutations in differentiated thyroid cancer. (2011) (63)
- Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients (2014) (61)
- Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy (2019) (61)
- Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer. (2015) (61)
- The impact of pregnancy on breast cancer survival in women who carry a BRCA1 or BRCA2 mutation (2013) (61)
- Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma. (2006) (61)
- Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. (1994) (61)
- Fabry disease: twenty novel α-galactosidase A mutations causing the classical phenotype (2001) (61)
- Genetic and clinical aspects of familial renal neoplasms. (2000) (60)
- Peroxisome proliferator-activated receptor gamma-mediated differentiation: a mutation in colon cancer cells reveals divergent and cell type-specific mechanisms. (2003) (60)
- Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3. (2012) (60)
- Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study. (2019) (59)
- Activation of the PI3K/AKT pathway induces urothelial carcinoma of the renal pelvis: identification in human tumors and confirmation in animal models. (2009) (59)
- Germline and somatic mutations in an oncogene: RET mutations in inherited medullary thyroid carcinoma. (1996) (59)
- Germline disruption of Pten localization causes enhanced sex-dependent social motivation and increased glial production. (2014) (59)
- Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci. (1998) (59)
- SNP arrays in heterogeneous tissue: highly accurate collection of both germline and somatic genetic information from unpaired single tumor samples. (2008) (59)
- De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. (2015) (58)
- The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing (2017) (58)
- Development of an Objective Autism Risk Index Using Remote Eye Tracking. (2016) (58)
- Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency. (2009) (58)
- p53 down-regulates phosphatase and tensin homologue deleted on chromosome 10 protein stability partially through caspase-mediated degradation in cells with proteasome dysfunction. (2006) (58)
- Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network. (2019) (58)
- Peroxisome proliferator-activated receptor gamma is frequently downregulated in a diversity of sporadic nonmedullary thyroid carcinomas (2003) (58)
- Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. (2013) (57)
- Genomic alterations in tumor stroma. (2009) (57)
- Renal cancer in von Hippel–Lindau disease and related syndromes (2013) (57)
- Frequency of germline genomic homozygosity associated with cancer cases. (2008) (57)
- GATA2 negatively regulates PTEN by preventing nuclear translocation of androgen receptor and by androgen-independent suppression of PTEN transcription in breast cancer. (2012) (57)
- Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. (2016) (56)
- Microbiomic subprofiles and MDR1 promoter methylation in head and neck squamous cell carcinoma (2011) (56)
- Oophorectomy after Menopause and the Risk of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers (2012) (56)
- A Unified Nomenclature and Amino Acid Numbering for Human PTEN (2014) (55)
- Linkage Disequilibrium between Two High-Frequency Deletion Polymorphisms: Implications for Association Studies Involving the glutathione-S transferase (GST) Genes (2009) (55)
- Clinical genetic counselling for familial cancers requires reliable data on familial cancer risks and general action plans (2004) (55)
- Human breast microbiome correlates with prognostic features and immunological signatures in breast cancer (2021) (55)
- Engaging basic scientists in translational research: identifying opportunities, overcoming obstacles (2012) (55)
- Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN (2019) (55)
- Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers (2006) (54)
- Hormone replacement therapy after menopause and risk of breast cancer in BRCA1 mutation carriers: a case–control study (2016) (54)
- Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1 (2000) (54)
- PTEN hamartoma tumour syndrome: variability of an entity (2003) (54)
- The Prevalence of Hereditary Hemorrhagic Telangiectasia in Juvenile Polyposis Syndrome (2012) (54)
- Upper and Lower Gastrointestinal Findings in PTEN Mutation–Positive Cowden Syndrome Patients Participating in an Active Surveillance Program (2011) (53)
- Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase (2013) (53)
- A novel mutation in the tyrosine kinase domain of ERBB2 in hepatocellular carcinoma (2006) (53)
- De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. (2014) (53)
- De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease. (1996) (52)
- Presymptomatic DNA screening in families with multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma. (1995) (52)
- Male breast cancer in Cowden syndrome patients with germline PTEN mutations (2001) (52)
- Vaccine‐associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray (2014) (52)
- Silencing of the maternally imprinted tumor suppressor ARHI contributes to follicular thyroid carcinogenesis. (2005) (52)
- Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells (2017) (51)
- When Overgrowth Bumps Into Cancer: The PTEN-Opathies. (2013) (51)
- Familial cancer syndromes (1994) (51)
- Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder (2018) (51)
- Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain (2002) (50)
- A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing (2019) (50)
- A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects (2016) (50)
- Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers (2007) (50)
- Glucocorticoid Receptor β Stimulates Akt1 Growth Pathway by Attenuation of PTEN* (2014) (50)
- Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. (2017) (50)
- Regional genomic instability predisposes to complex dystrophin gene rearrangements (2009) (50)
- 65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma. (2018) (49)
- Absence of 185delAG mutation of the BRCA1 gene and 6174delT mutation of the BRCA2 gene in Ashkenazi Jewish men with prostate cancer. (1998) (49)
- Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma cases (2001) (49)
- Should patients with Cowden syndrome undergo prophylactic thyroidectomy? (2012) (49)
- A Network Medicine Approach to Investigation and Population-based Validation of Disease Manifestations and Drug Repurposing for COVID-19 (2020) (49)
- Specific kinesin expression profiles associated with taxane resistance in basal-like breast cancer (2012) (49)
- PTEN hamartoma tumor syndrome: clinical risk assessment and management protocol. (2015) (49)
- Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders. (2015) (49)
- Androgen receptor-induced tumor suppressor, KLLN, inhibits breast cancer growth and transcriptionally activates p53/p73-mediated apoptosis in breast carcinomas. (2013) (48)
- Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function (2009) (48)
- Squamous morules are functionally inert elements of premalignant endometrial neoplasia (2009) (48)
- Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss (2009) (47)
- Demographic and phenotypic features of 70 families segregating Barrett’s oesophagus and oesophageal adenocarcinoma (2003) (47)
- HPV status‐independent association of alcohol and tobacco exposure or prior radiation therapy with promoter methylation of FUSSEL18, EBF3, IRX1, and SEPT9, but not SLC5A8, in head and neck squamous cell carcinomas (2009) (47)
- Germline PTEN, SDHB‐D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden‐like syndromes: An international, multicenter, prospective study (2015) (47)
- Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies (2018) (47)
- Role of PTEN, a Lipid Phosphatase Upstream Effector of Protein Kinase B, in Epithelial Thyroid Carcinogenesis (2002) (46)
- Multiple mRNA isoforms of the human RET proto-oncogene generated by alternate splicing. (1995) (46)
- Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation (2011) (46)
- Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma (2004) (46)
- Elevated plasma succinate in PTEN, SDHB, and SDHD mutation–positive individuals (2012) (46)
- Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes and Hirschsprung disease (1994) (46)
- Low frequency of RET mutations in Hirschsprung disease in Sweden (1998) (45)
- Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation. (2008) (45)
- Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease. (1992) (45)
- Phenotypic expansion in DDX3X – a common cause of intellectual disability in females (2018) (45)
- Gut microbiome and chronic prostatitis/chronic pelvic pain syndrome. (2017) (45)
- Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice (2015) (44)
- A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network (2017) (44)
- MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death (2016) (44)
- Functional and Taxonomic Dysbiosis of the Gut, Urine, and Semen Microbiomes in Male Infertility. (2020) (44)
- Microsatellite instability and hMLH1/hMSH2 expression in Barrett esophagus‐associated adenocarcinoma (2001) (44)
- Cancer characteristics in Swedish families fulfilling criteria for hereditary nonpolyposis colorectal cancer. (2005) (44)
- Neural transcriptome of constitutional Pten dysfunction in mice and its relevance to human idiopathic Autism Spectrum Disorder (2015) (44)
- Testicular microlithiasis: recent advances in understanding and management (2011) (43)
- Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations. (2008) (43)
- The association between the myelodysplastic syndromes and Crohn disease. (1992) (43)
- BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia (2008) (43)
- Characterization of endolymphatic sac tumors and von Hippel–Lindau disease in the International Endolymphatic Sac Tumor Registry (2016) (43)
- De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia (2016) (43)
- Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. (2006) (43)
- Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors. (2018) (42)
- Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer. (2019) (42)
- Regulation of the PTEN promoter by statins and SREBP. (2007) (42)
- Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome (2008) (42)
- Cognitive characteristics of PTEN hamartoma tumor syndromes (2013) (42)
- Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases (2019) (42)
- Inflammatory disease of the aorta: patterns and classification of giant cell aortitis, Takayasu arteritis, and nonsyndromic aortitis. (2015) (42)
- De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. (2016) (41)
- Somatic mutation and germline variants of MINPP1, a phosphatase gene located in proximity to PTEN on 10q23.3, in follicular thyroid carcinomas. (2001) (41)
- VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality (2001) (41)
- Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype. (2001) (41)
- Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53 (2010) (41)
- Fabry Disease: Fourteen α-Galactosidase A Mutations in Unrelated Families from the United Kingdom and Other European Countries (1996) (41)
- A highly accurate, low cost test forBRCA1 mutations (1999) (41)
- Third international workshop on collaborative interdisciplinary studies of p53 and other predisposing genes in Li-Fraumeni syndrome. (1997) (40)
- Germline PARP4 mutations in patients with primary thyroid and breast cancers. (2016) (40)
- The expression of RET and its multiple splice forms in developing human kidney (1997) (40)
- Rapid design of denaturing gradient-based two-dimensional electrophoretic gene mutational scanning tests. (1998) (40)
- Chromosomal microarray versus karyotyping for prenatal diagnosis (2013) (39)
- Development and Validation of Objective and Quantitative Eye Tracking-Based Measures of Autism Risk and Symptom Levels. (2018) (39)
- Precision medicine in heritable cancer: when somatic tumour testing and germline mutations meet (2016) (39)
- Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN. (2005) (39)
- Bioethical and Clinical Dilemmas of Direct-to-Consumer Personal Genomic Testing: The Problem of Misattributed Equivalence (2010) (39)
- Cowden syndrome. (2007) (39)
- Clinical Implications for Germline PTEN Spectrum Disorders. (2017) (39)
- Personal Mutanomes Meet Modern Oncology Drug Discovery and Precision Health (2018) (39)
- Founder BRCA 1 and 2 mutations among a consecutive series of Ashkenazi Jewish ovarian cancer patients. (2000) (39)
- Constipation, polyps, or cancer? let PTEN predict your future (2003) (39)
- Prospective comparison of family medical history with personal genome screening for risk assessment of common cancers (2012) (39)
- Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene. (1996) (39)
- Fabry Disease:: Renal Sonographic and Magnetic Resonance Imaging Findings in Affected Males and Carrier Females With the Classic and Cardiac Variant Phenotypes (2004) (38)
- Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease (2003) (38)
- Investigation of germline GFRα-1 mutations in Hirschsprung disease (1999) (38)
- To be or not to BMP (2001) (38)
- Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations (2017) (38)
- Emergence, involution, and progression to carcinoma of mutant clones in normal endometrial tissues. (2014) (38)
- A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics (2016) (38)
- Thymic carcinoid in multiple endocrine neoplasia 1: genotype–phenotype correlation and prevention (2006) (38)
- Mutation of the RET proto-oncogene is correlated with RET immunostaining in subpopulations of cells in sporadic medullary thyroid carcinoma. (1998) (38)
- Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers (2014) (37)
- Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features (2017) (37)
- Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse. (1991) (37)
- Fabry disease: an unusual cause of severe coronary disease in a young man. (1992) (37)
- ATP modulates PTEN subcellular localization in multiple cancer cell lines (2008) (37)
- A Systems Pharmacology Approach Uncovers Wogonoside as an Angiogenesis Inhibitor of Triple-Negative Breast Cancer by Targeting Hedgehog Signaling. (2019) (36)
- Circulating tumor cells in uveal melanoma. (2011) (36)
- Integrated Analysis Reveals Critical Genomic Regions in Prostate Tumor Microenvironment Associated with Clinicopathologic Phenotypes (2012) (36)
- Formative Evaluation of Clinician Experience with Integrating Family History-Based Clinical Decision Support into Clinical Practice (2014) (36)
- Chromosome 3 status in uveal melanoma: a comparison of fluorescence in situ hybridization and single-nucleotide polymorphism array. (2012) (36)
- Increased Prevalence of Eosinophilic Gastrointestinal Disorders in Pediatric PTEN Hamartoma Tumor Syndromes (2014) (35)
- 65 YEARS OF THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: PTEN-opathies and precision medicine. (2018) (35)
- Molecular classification of parathyroid neoplasia by gene expression profiling. (2004) (34)
- Multiple Endocrine Neoplasia Type 2 (2015) (34)
- Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach (2020) (34)
- Age‐Related Penetrance of Hereditary Atypical Hemolytic Uremic Syndrome (2011) (34)
- Ancestral RET haplotype associated with Hirschsprung’s disease shows linkage disequilibrium breakpoint at −1249 (2005) (34)
- Germline and somatic DNA methylation and epigenetic regulation of KILLIN in renal cell carcinoma (2011) (34)
- Over-representation of PPARγ sequence variants in sporadic cases of glioblastoma multiforme: preliminary evidence for common low penetrance modifiers for brain tumour risk in the general population (2000) (34)
- Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling (2020) (33)
- Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer. (2008) (33)
- A Novel STXBP1 Mutation Causes Focal Seizures With Neonatal Onset (2012) (33)
- Quantitative autism symptom patterns recapitulate differential mechanisms of genetic transmission in single and multiple incidence families (2015) (33)
- Is Whole‐Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors (2016) (33)
- Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG). (1999) (33)
- International Rates of Breast Reconstruction After Prophylactic Mastectomy in BRCA1 and BRCA2 Mutation Carriers (2013) (33)
- Systematic comparison of sporadic and syndromic pancreatic islet cell tumors. (2010) (33)
- Cytoplasmic-predominant Pten increases microglial activation and synaptic pruning in a murine model with autism-like phenotype (2020) (33)
- Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns (2017) (32)
- WWP1 Gain-of-Function Inactivation of PTEN in Cancer Predisposition. (2020) (32)
- De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. (2018) (32)
- Prenatal diagnosis of Glanzmann thrombasthenia using the polymorphic markers BRCA1 and THRA1 on chromosome 17 (1998) (32)
- Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography. (2001) (31)
- Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. (2006) (31)
- Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma (2007) (31)
- Noncytotoxic suramin as a chemosensitizer in patients with advanced non-small-cell lung cancer: a phase II study. (2008) (31)
- Meningeal carcinomatosis from transitional cell carcinoma of the bladder (1993) (31)
- Transcription factor KLLN inhibits tumor growth by AR suppression, induces apoptosis by TP53/TP73 stimulation in prostate carcinomas, and correlates with cellular differentiation. (2013) (31)
- Functioning Paraganglioma and Gastrointestinal Stromal Tumor of the Jejunum in Three Women: Syndrome or Coincidence (2006) (31)
- Clinical and molecular characterization of de novo loss of function variants in HNRNPU (2017) (30)
- A de novo mutation of the RET proto-oncogene in a patient with MEN 2A. (1994) (30)
- Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning. (1998) (30)
- A practical guide to interpretation and clinical application of personal genomic screening (2009) (30)
- A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes (2006) (30)
- Germline Mutations in Non-syndromic Pheochromocytoma (2004) (30)
- Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes (2019) (30)
- Disruption of transforming growth factor-beta signaling by five frequently methylated genes leads to head and neck squamous cell carcinoma pathogenesis. (2009) (29)
- Selective Roles of E2Fs for ErbB2- and Myc-mediated Mammary Tumorigenesis (2013) (29)
- Fine‐structure deletion mapping of 10q22–24 identifies regions of loss of heterozygosity and suggests that sporadic follicular thyroid adenomas and follicular thyroid carcinomas develop along distinct neoplastic pathways (1999) (29)
- Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision (2021) (29)
- Severe TMD/AMKL with GATA1 mutation in a stillborn fetus with Down syndrome (2007) (29)
- Familial adenomatous polyposis in a patient with unexplained mental retardation (2007) (29)
- Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset. (2003) (29)
- CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels (2020) (28)
- Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome (2017) (28)
- Over-representation of a germline variant in the gene encoding RET co-receptor GFRα-1 but not GFRα-2 or GFRα-3 in cases with sporadic medullary thyroid carcinoma (2001) (28)
- cgaTOH: Extended Approach for Identifying Tracts of Homozygosity (2013) (28)
- PTEN Hamartoma Tumor Syndrome (PHTS)-GeneReviews-NCBI Bookshelf (28)
- A reinvestigation of somatic hypermethylation at the PTEN CpG island in cancer cell lines (2012) (28)
- Mendelian genetics of rare—and not so rare—cancers (2010) (28)
- Multiplex ligation‐dependent probe amplification (MLPA) and prenatal diagnosis (2012) (28)
- Impact of an embedded genetic counselor on breast cancer treatment (2018) (28)
- Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma. (1999) (27)
- Characterization of the colorectal cancer-associated enhancer MYC-335 at 8q24: the role of rs67491583. (2012) (27)
- Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1. (1997) (27)
- PTEN in Hereditary and Sporadic Cancer. (2019) (27)
- A Genocentric Approach to Discovery of Mendelian Disorders. (2019) (27)
- Mutation analysis of glial cell line-derived neurotrophic factor, a ligand for an RET/coreceptor complex, in multiple endocrine neoplasia type 2 and sporadic neuroendocrine tumors. (1997) (27)
- PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing? (2013) (26)
- Constitutional mislocalization of Pten drives precocious maturation in oligodendrocytes and aberrant myelination in model of autism spectrum disorder (2019) (26)
- Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation (2014) (26)
- Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors (2020) (26)
- The incidence of leukaemia in women with BRCA1 and BRCA2 mutations: an International Prospective Cohort Study (2016) (26)
- Demographic and clinical correlates of autism symptom domains and autism spectrum diagnosis (2014) (26)
- Risk factors for endometrial cancer among women with a BRCA1 or BRCA2 mutation: a case control study (2015) (26)
- Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer (2015) (26)
- Frequency of genomic incidental findings among 21,915 eMERGE network participants (2020) (25)
- Addressing gaps in physician education using personal genomic testing (2011) (25)
- The role of PTEN, a phosphatase gene, in inherited and sporadic nonmedullary thyroid tumors. (1999) (25)
- Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1. (2008) (25)
- No evidence for germline PTEN mutations in families with breast and brain tumours (1999) (25)
- Assessment of clinical workload for general and specialty genetic counsellors at an academic medical center: a tool for evaluating genetic counselling practices (2016) (25)
- De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures (2019) (25)
- Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations (2018) (25)
- EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis (2006) (25)
- Mutation analysis of glial cell line-derived neurotrophic factor (GDNF), a ligand for the RET/GDNF receptor alpha complex, in sporadic phaeochromocytomas. (1997) (25)
- Physical activity during adolescence and young adulthood and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers (2018) (25)
- High frequency of loss of heterozygosity in imprinted, compared with nonimprinted, genomic regions in follicular thyroid carcinomas and atypical adenomas. (2006) (25)
- Editorial: Familial papillary thyroid cancer - Many syndromes, too many genes? (2000) (25)
- Individualized genetic network analysis reveals new therapeutic vulnerabilities in 6,700 cancer genomes (2020) (24)
- Expression of vascular endothelial growth factor in uveal melanoma is independent of 6p21-region copy number. (2005) (24)
- Activation of AR Sensitizes Breast Carcinomas to NVP-BEZ235's Therapeutic Effect Mediated by PTEN and KLLN Upregulation (2013) (24)
- Vitamin E Protects against Lipid Peroxidation and Rescues Tumorigenic Phenotypes in Cowden/Cowden-like Patient-Derived Lymphoblast Cells with Germline SDHx Variants (2012) (24)
- De-novo mutations of the RET proto-oncogene in Hirschsprung's disease (1994) (24)
- Frequent somatic mutations in PTEN and TP53 are mutually exclusive in the stroma of breast carcinomas (2002) (24)
- Comprehensive mutation analysis of TSC1 using two‐dimensional DNA electrophoresis with DGGE (1998) (24)
- Characteristics of Intracranial Aneurysms in the Else Kröner-Fresenius Registry of Autosomal Dominant Polycystic Kidney Disease (2012) (24)
- A large health system's approach to utilization of the genetic counselor CPT® 96040 code (2011) (24)
- cDNA microarray analysis assists in diagnosis of malignant intrarenal pheochromocytoma originally masquerading as a renal cell carcinoma (2005) (24)
- An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships. (2019) (24)
- Unusual features in a patient with neurofibromatosis type 1: Multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney (2004) (24)
- PTEN mutations and Proteus syndrome (2001) (23)
- A registry-based study of thyroid paraganglioma: histological and genetic characteristics. (2015) (23)
- Metabolomic analysis identifies differentially produced oral metabolites, including the oncometabolite 2-hydroxyglutarate, in patients with head and neck squamous cell carcinoma (2016) (23)
- Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young (2016) (23)
- Varicella Zoster Virus and Large Vessel Vasculitis, the Absence of an Association (2017) (23)
- First report of ovarian dysgerminoma in Cowden syndrome with germline PTEN mutation and PTEN-related 10q loss of tumor heterozygosity. (2008) (23)
- Biallelic inactivating mutations and an occult germline mutation of PTEN in primary cervical carcinomas (2000) (23)
- Four cases of mucosal neuroma syndrome: multiple endocrine neoplasm 2B or not 2B? (1998) (23)
- Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions (2020) (22)
- Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability (2017) (22)
- Absence of germline mutations in MINPP1, a phosphatase encoding gene centromeric of PTEN, in patients with Cowden and Bannayan-Riley- Ruvalcaba syndrome without germlinePTEN mutations (2000) (22)
- Editorial: germline variants within RET: clinical utility or scientific playtoy? (2005) (22)
- Genomic organization and chromosomal localization of the human CUL2 gene and the role of von Hippel‐Lindau tumor suppressor‐binding protein (CUL2 and VBP1) mutation and loss in renal‐cell carcinoma development (1999) (22)
- Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews. (2001) (22)
- Genetics of cognition in epilepsy (2014) (22)
- Fine-structure deletion mapping of 10q22-24 identifies regions of loss of heterozygosity and suggests that sporadic follicular thyroid adenomas and follicular thyroid carcinomas develop along distinct neoplastic pathways. (1999) (21)
- De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones (2003) (21)
- Cloning and characterization of the human GFRA2 locus and investigation of the gene in Hirschsprung disease (2001) (21)
- Nuclear PTEN levels and G2 progression in melanoma cells (2009) (21)
- Impact of Multigene Panel Testing on Surgical Decision Making in Breast Cancer Patients. (2018) (21)
- Prevalence of HPV infection in racial–ethnic subgroups of head and neck cancer patients (2017) (21)
- Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity. (2013) (21)
- Two-dimensional gel proteome reference map of blood monocytes (2006) (21)
- PTEN hamartoma tumor syndrome and Gorham–Stout phenomenon (2012) (21)
- Investigation of the genes for RET and its ligand complex, GDNF/GFRα‐1, in small cell lung carcinoma (1998) (20)
- Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle (2016) (20)
- Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes (2019) (20)
- Genetics of Ustilago violacea (1987) (20)
- DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract (2019) (20)
- Germline and somatic KLLN alterations in breast cancer dysregulate G2 arrest. (2013) (20)
- Familial risk for soft tissue tumors: a nation-wide epidemiological study from Sweden (2008) (20)
- Building an innovative model for personalized healthcare (2012) (20)
- Exome Sequencing Reveals Germline SMAD9 Mutation That Reduces Phosphatase and Tensin Homolog Expression and Is Associated With Hamartomatous Polyposis and Gastrointestinal Ganglioneuromas. (2015) (20)
- Germline alterations in RASAL1 in Cowden syndrome patients presenting with follicular thyroid cancer and in individuals with apparently sporadic epithelial thyroid cancer. (2014) (20)
- PTEN lipid phosphatase activity and proper subcellular localization are necessary and sufficient for down-regulating AKT phosphorylation in the nucleus in Cowden syndrome. (2012) (20)
- Gene-expression profiling in differentiated thyroid cancer--a viable strategy for the practice of genomic medicine? (2005) (20)
- The mechanism of full activation of tumor suppressor PTEN at the phosphoinositide-enriched membrane (2021) (19)
- Characteristics of undiagnosed diseases network applicants: implications for referring providers (2018) (19)
- De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome (2019) (19)
- PTEN Mutations Trigger Resistance to Immunotherapy. (2019) (19)
- Pharmacogenomics: An evolving clinical tool for precision medicine (2020) (19)
- Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia. (2013) (19)
- Human α-Galactosidase: Characterization and Eukaryotic Expression of the Full-Length cDNA and Structural Organization of the Gene (1988) (19)
- MOLECULAR PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE Ia (1996) (19)
- TERT and BRAF in thyroid cancer: teaming up for trouble. (2014) (19)
- Multiple tumors in a child with germ-line mutations in TP53 and PTEN. (2008) (19)
- Evaluation of germline sequence variants of GFRA1, GFRA2, and GFRA3 genes in a cohort of Spanish patients with sporadic medullary thyroid cancer. (2002) (19)
- Haplotype analysis of MEN 2 mutations. (1994) (19)
- Largescale population genomics versus deep phenotyping: Brute force or elegant pragmatism towards precision medicine (2019) (19)
- Erratum: Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours (Human Molecular Genetics (1994) 3 (237-241)) (1994) (19)
- KLLN epigenotype–phenotype associations in Cowden syndrome (2015) (18)
- Utility of PTEN protein dosage in predicting for underlying germline PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes. (2012) (18)
- An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (2020) (18)
- A Practical Guide to Human Cancer Genetics (2013) (18)
- Molecular findings among patients referred for clinical whole-exome sequencing: Editorial comment (2015) (18)
- Germline RET codon 918 mutation in apparently isolated intestinal ganglioneuromatosis. (1998) (18)
- SDHB--a gene for all tumors? (2008) (18)
- Consortium approach to identifying genes for Barrett's esophagus and esophageal adenocarcinoma. (2007) (18)
- Long-term outcome in a patient with pulmonary hypertension and hereditary hemorrhagic telangiectasia. (2007) (18)
- Centers for Mendelian Genomics: A decade of facilitating gene discovery (2021) (18)
- No mutation at codon 918 of the RET gene in a family with multiple endocrine neoplasia type 2B (1995) (18)
- The penetrance of MEN2 pheochromocytoma is not only determined by RET mutations. (2017) (18)
- A Nonpump Function of Sodium Iodide Symporter in Thyroid Cancer via Cross-talk with PTEN Signaling. (2018) (18)
- Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel (2018) (18)
- PTEN regulates phospholipase D and phospholipase C. (2007) (18)
- Bacteriome and mycobiome and bacteriome-mycobiome interactions in head and neck squamous cell carcinoma (2020) (18)
- Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis (2005) (18)
- Accurate, high-throughput "snapshot" detection of hMLH1 mutations by two-dimensional DNA electrophoresis. (1998) (18)
- Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits (2015) (17)
- Prevalence of HPV infection in racial-ethnic subgroups of head and neck cancer patients. (2016) (17)
- Genomic structure and chromosomal localization of the human GDNFR-α gene (1998) (17)
- Mutation analysis of NTRK2 and NTRK3, encoding 2 tyrosine kinase receptors, in sporadic human medullary thyroid carcinoma reveals novel sequence variants (2001) (17)
- The expanding role of PTEN in neoplasia: a molecule for all seasons? Commentary re: M. A. Davies, et al., Adenoviral-mediated expression of MMAC/PTEN inhibits proliferation and metastasis of human prostate cancer cells. Clin. Cancer Res., 8: 1904-1914, 2002. (2002) (17)
- The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients. (2013) (17)
- Variable expression of coxsackie-adenovirus receptor in thyroid tumors: implications for adenoviral gene therapy. (2005) (17)
- Investigating the Link between Lynch Syndrome and Breast Cancer. (2020) (17)
- Microbiomes of Inflammatory Thoracic Aortic Aneurysms Due to Giant Cell Arteritis and Clinically Isolated Aortitis Differ From Those of Non-Inflammatory Aneurysms (2019) (17)
- A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease. (1994) (17)
- Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases. (2001) (17)
- Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function (2018) (17)
- Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. (2019) (17)
- Activator protein 2 alpha (AP2α) suppresses 42 kDa C/CAAT enhancer binding protein α (p42C/EBPα) in head and neck squamous cell carcinoma (2009) (17)
- Cowden syndrome-associated germline succinate dehydrogenase complex subunit D (SDHD) variants cause PTEN-mediated down-regulation of autophagy in thyroid cancer cells (2017) (17)
- Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE) (2016) (16)
- Genetic and Clinical Investigation of Pheochromocytoma (2006) (16)
- AP-2α Induces Epigenetic Silencing of Tumor Suppressive Genes and Microsatellite Instability in Head and Neck Squamous Cell Carcinoma (2009) (16)
- Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome (2019) (16)
- Update on the molecular diagnosis of endocrine tumors: toward -omics-based personalized healthcare? (2008) (16)
- Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations (2020) (16)
- Balanced translocation of 10q and13q, including the PTEN gene, in a boy with a human chorionic gonadotropin-secreting tumor and the Bannayan-Riley-Ruvalcaba syndrome. (1999) (16)
- Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care (2017) (16)
- Exome sequencing reveals germline gain-of-function EGFR mutation in an adult with Lhermitte–Duclos disease (2016) (16)
- Homozygous variants in pyrroline‐5‐carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy (2017) (16)
- A simple system for automated two-dimensional electrophoresis: applications to genetic testing. (1998) (16)
- Heritable clustering and pathway discovery in breast cancer integrating epigenetic and phenotypic data (2007) (16)
- Mutation analysis of the c-mos proto-oncogene and the endothelin-B receptor gene in medullary thyroid carcinoma and phaeochromocytoma. (1996) (15)
- Germline compound heterozygous poly-glutamine deletion in USF3 may be involved in predisposition to heritable and sporadic epithelial thyroid carcinoma (2016) (15)
- A time study of cancer genetic counselors using a genetic counselor-only patient care model versus a traditional combined genetic counselor plus medical geneticist care model. (2013) (15)
- A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins. (2017) (15)
- Cancer-predisposition gene KLLN maintains pericentric H3K9 trimethylation protecting genomic stability (2015) (15)
- Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review (2019) (15)
- Integrative Genomic Analysis Reveals Extended Germline Homozygosity with Lung Cancer Risk in the PLCO Cohort (2012) (15)
- Maternal and fetal outcomes in phaeochromocytoma and pregnancy: a multicentre retrospective cohort study and systematic review of literature. (2020) (15)
- The Microbiome of Temporal Arteries (2019) (14)
- Over-representation of a germline variant in the gene encoding RET co-receptor GFRalpha-1 but not GFRalpha-2 or GFRalpha-3 in cases with sporadic medullary thyroid carcinoma. (2001) (14)
- Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis. (2015) (14)
- Differences in allelic distribution of two polymorphisms in the VHL-associated gene CUL2 in pheochromocytoma patients without somatic CUL2 mutations. (1999) (14)
- The ethics of conducting molecular autopsies in cases of sudden death in the young (2016) (14)
- Multimodal single-cell omics analysis identifies epithelium–immune cell interactions and immune vulnerability associated with sex differences in COVID-19 (2021) (14)
- Population-based universal screening for Lynch syndrome: ready, set... How? (2013) (14)
- Investigation of germline GFR alpha-1 mutations in Hirschsprung disease. (1999) (14)
- The RET IVS1-126G>T variant is strongly associated with the development of sporadic medullary thyroid cancer. (2004) (13)
- Body mass, age, and the APC I1307K allele in Ashkenazi Jewish prostate cancer patients. (2000) (13)
- Deletion‐insertion mutation encompassing RET codon 634 is associated with medullary thyroid carcinoma (1998) (13)
- Germline PTEN/MMAC1/TEP1 mutations and association with gastrointestinal manifestations in Cowden disease (1998) (13)
- Critical factors in the performance and cost of two-dimensional gene scanning: RB1 as a model. (1998) (13)
- Cancer: A ringleader identified (2008) (13)
- Max Schottelius: Pioneer in Pheochromocytoma (2017) (13)
- Von Hippel-Lindau Disease and Pheochromocytoma (1996) (13)
- A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus (2006) (13)
- CORRIGENDUM: Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics (2017) (13)
- Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases (2021) (12)
- Laparoscopic Organ-Sparing Resection of Von Hippel-Lindau Disease-Associated Pancreatic Neuroendocrine Tumors (2011) (12)
- Penetrance and clinical manifestations of non-hotspot germline RET mutation, C630R, in a family with medullary thyroid carcinoma. (2005) (12)
- Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science (2020) (12)
- Germline PTEN Mutation Analysis for PTEN Hamartoma Tumor Syndrome. (2016) (12)
- CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities (2016) (12)
- Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS). (1999) (12)
- Head circumference in the clinical detection of PTEN hamartoma tumor syndrome in a clinic population at high-risk of breast cancer (2010) (12)
- Alternative splicing landscape of the neural transcriptome in a cytoplasmic-predominant Pten expression murine model of autism-like Behavior (2020) (12)
- Communicating with Biobank Participants: Preferences for Receiving and Providing Updates to Researchers (2015) (12)
- Personalised care and the genome (2012) (12)
- Genetics of Ustilago violacea. XII. Half-Tetrad Analysis and Double Selection (1982) (12)
- Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33. (1995) (12)
- Mutations in exon 10 of the RET proto-oncogene in Hirschsprung`s disease (1994) (12)
- Multiple Endocrine Neoplasia Type 2 and the Practice of Molecular Medicine (2000) (12)
- 31st Annual Meeting and Associated Programs of the Society for Immunotherapy of Cancer (SITC 2016): part two (2016) (11)
- HABP2 in Familial Non-medullary Thyroid Cancer: Will the Real Mutation Please Stand Up? (2016) (11)
- Using chatbots to screen for heritable cancer syndromes in patients undergoing routine colonoscopy (2020) (11)
- Age at first full-term birth and breast cancer risk in BRCA1 and BRCA2 mutation carriers (2018) (11)
- YEARS OF THE DOUBLE HELIX One gene , many endocrine and metabolic syndromes : PTEN-opathies and precision medicine (2018) (11)
- Equality in lynch syndrome screening: why should we hold patients with endometrial cancer to a different standard? (2014) (11)
- Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: Evidence that 3199del6 is a disease-causing mutation (2004) (11)
- IL13RA2 is differentially regulated in Papillary Thyroid Carcinoma versus Follicular Thyroid Carcinoma. (2019) (11)
- RE: Cowden syndrome and PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. (2014) (11)
- The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes (2003) (11)
- Adenomatoid tumour of the adrenal gland in a patient with germline SDHD mutation: a case report and review of the literature. (2011) (10)
- RASAL1 in thyroid cancer: wisdom from an old foe. (2013) (10)
- Investigation of the genes for RET and its ligand complex, GDNF/GFR alpha-I, in small cell lung carcinoma. (1998) (10)
- Molecular exclusion of haemoglobin SD disease by prenatal diagnosis (1999) (10)
- Genetic Disorders of Endocrine Neoplasia (2001) (10)
- Germline TTN variants are enriched in PTEN-wildtype Bannayan–Riley–Ruvalcaba syndrome (2017) (10)
- SNP’ing at nasopharyngeal cancer susceptibility: For whom the bell TOLLs (2006) (10)
- Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability (2018) (10)
- RET mutations in multiple endocrine neoplasia type 2 and Hirschsprung disease (1995) (9)
- Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. (2020) (9)
- A toolkit for genetics providers in follow‐up of patients with non‐diagnostic exome sequencing (2019) (9)
- Learning to Detect Brain Lesions from Noisy Annotations (2020) (9)
- Neuromas in Multiple Endocrine Neoplasia Type 2A with a RET Codon 611 Mutation (1999) (9)
- Preliminary report: Late seizure recurrence years after epilepsy surgery may be associated with alterations in brain tissue transcriptome (2018) (9)
- Functional and structural analysis of cytokine selective IL6ST defects that cause recessive hyper-IgE syndrome. (2021) (9)
- Molecular genetics to genomic medicine practice: at the heart of value-based delivery of healthcare (2013) (9)
- Maternal genetics influences fetal neurodevelopment and postnatal autism spectrum disorder-like phenotype by modulating in-utero immunosuppression (2021) (9)
- Microenvironmental protection in diffuse large-B-cell lymphoma. (2008) (9)
- KLLN-mediated DNA damage-induced apoptosis is associated with regulation of p53 phosphorylation and acetylation in breast cancer cells (2018) (9)
- Immunotherapeutic target expression on breast tumors can be amplified by hormone receptor antagonism: a novel strategy for enhancing efficacy of targeted immunotherapy (2017) (9)
- Beliefs in vaccine as causes of autism among SPARK cohort caregivers. (2020) (9)
- Clinical experience with non‐invasive prenatal screening for single‐gene disorders (2021) (9)
- A novel polymorphism in the coding sequence of the human RET proto-oncogene (1994) (9)
- Prospective evaluation of body size and breast cancer risk among BRCA1 and BRCA2 mutation carriers. (2018) (9)
- The prevalence of hereditary hemorrhagic telangiectasia in Juvenile Polyposis syndrome patients with SMAD4 mutations (2011) (9)
- Germline Mutations in MSR 1 , ASCC 1 , and CTHRC 1 in Patients With Barrett Esophagus and Esophageal Adenocarcinoma (2011) (9)
- Limitations of single-strand conformation polymorphism analysis as a high-throughput method for the detection of EGFR mutations in the clinical setting. (2005) (9)
- Reply to Salviati et al. (2006) (8)
- New Genetic and Genomic Approaches After the Genome-wide Association Study Era--Back to the Future. (2015) (8)
- ACG Guidelines on Management of PTEN-Hamartoma Tumor Syndrome: Does the Evidence Support so Much so Young? (2015) (8)
- Common alleles of predisposition in endocrine neoplasia. (2010) (8)
- RET Y791F Variant Does Not Increase the Risk for Medullary Thyroid Carcinoma. (2015) (8)
- BDNF and COMT, but not APOE, alleles are associated with psychiatric symptoms in refractory epilepsy (2019) (8)
- Decreased nuclear Pten in neural stem cells contributes to deficits in neuronal maturation (2020) (8)
- My personal mutanome: a computational genomic medicine platform for searching network perturbing alleles linking genotype to phenotype (2021) (8)
- PTEN interacts with RNA polymerase II to dephosphorylate polymerase II C-terminal domain (2019) (8)
- Next-Generation Sequencing to Diagnose Suspected Genetic Disorders. (2019) (8)
- Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia (2017) (8)
- Microenvironmental genomic alterations reveal signaling networks for head and neck squamous cell carcinoma (2011) (7)
- Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study (2020) (7)
- mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion (2021) (7)
- Genomic medicine : principles and practice (2014) (7)
- Does the age of breast cancer diagnosis in first-degree relatives impact on the risk of breast cancer in BRCA1 and BRCA2 mutation carriers? (2015) (7)
- Association of specific PTEN/10q haplotypes with endometrial cancer phenotypes in African-American and European American women. (2015) (7)
- LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining (2011) (7)
- Brothers with germline PTEN mutations and persistent hypoglycemia, macrocephaly, developmental delay, short stature, and coagulopathy (2013) (7)
- Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype (2017) (7)
- Characterization of the renal phenotype in RMND1‐related mitochondrial disease (2019) (7)
- Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain (2020) (7)
- PTEN hamartoma tumour syndrome: What happens when there is no PTEN germline mutation? (2020) (7)
- Obesity, diabetes mellitus, and cancer. (2012) (7)
- Erratum: A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) (Genetics in Medicine (August 2006) 8, 8, (465-473)) (2006) (7)
- The Familial Muir-Torre Syndrome (1993) (7)
- The Common Cancers (2004) (6)
- Cowden Syndrome (1997) (6)
- Pulmonary Arterial Hypertension in a Patient with Cowden Syndrome and the PTEN Mutation (2014) (6)
- De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities (2018) (6)
- A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testing. (2002) (6)
- PTEN HAMARTOMA TUMOR SYNDROME (2021) (6)
- Decision aids from genetics to treatment of breast cancer: long-term clinical utility or temporary solution? (2004) (6)
- From bench to bedside... but when? (1997) (6)
- Verbal memory dysfunction is associated with alterations in brain transcriptome in dominant temporal lobe epilepsy (2020) (6)
- Aging‐related cell type‐specific pathophysiologic immune responses that exacerbate disease severity in aged COVID‐19 patients (2021) (6)
- A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations (2021) (6)
- Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome (2013) (6)
- Lhermitte–Duclos disease caused by a novel germline PTEN mutation R173P in a patient presenting with psychosis (2010) (6)
- Mutation and deletion analysis of GFRα-1, encoding the co-receptor for the GDNF/RET complex, in human brain tumours (1999) (6)
- Germline nuclear-predominant Pten murine model exhibits impaired social and perseverative behavior, microglial activation, and increased oxytocinergic activity (2020) (6)
- PTEN modulates gene transcription by redistributing genome-wide RNA polymerase II occupancy (2019) (6)
- Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations (2021) (6)
- Germline PTEN mutations are associated with a skewed peripheral immune repertoire in humans and mice. (2020) (6)
- Heterozygous variants in SPTBN1 cause intellectual disability and autism (2021) (6)
- Hereditary implications of somatic tumor testing. (2015) (6)
- HLA-DQA1 and polymarker allele frequencies in two New York City Jewish populations. (1997) (6)
- PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy (2021) (5)
- Missense mutation in the PTEN promoter of a patient with hemifacial hyperplasia. (2015) (5)
- Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. (2019) (5)
- Erratum: Inflammatory disease of the aorta: Patterns and classification of giant cell aortitis, Takayasu arteritis, and nonsyndromic aortitis (Journal of Thoracic and Cardiovascular Surgery (2015) 149 (S170-S175)) (2016) (5)
- CHAPTER 13 – Pheochromocytoma and the Multiple Endocrine Neoplasia Syndromes (2008) (5)
- Mismatch Repair Deficiency in Colorectal Cancers: Is Somatic Genomic Testing the Grab-Bag for All Answers? (2016) (5)
- The microbiome in PTEN hamartoma tumor syndrome (2017) (5)
- Transient abnormal myelopoiesis of a newborn not associated with chromosome 21 abnormalities or GATA1 mutations (2015) (5)
- Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (2021) (5)
- Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR gene. (2013) (5)
- Non-canonical role of cancer-associated mutant SEC23B in the ribosome biogenesis pathway (2018) (5)
- Breastfeeding and the risk of epithelial ovarian cancer among women with a BRCA1 or BRCA2 mutation. (2020) (5)
- The Expanding Role of PTEN in Neoplasia: A Molecule for All Seasons? 1 Adenoviral-mediated Expression of MMAC/PTEN Inhibits Proliferation and Metastasis of Human Prostate Cancer Cells. (2002) (5)
- Pharmacogenomics for Immunotherapy and Immune-related Cardiotoxicity. (2020) (5)
- Pheochromocytoma and Paraganglioma. Reply. (2019) (5)
- Shape shifting: The multiple conformational substates of the PTEN N‐terminal PIP2 ‐binding domain (2022) (5)
- Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma (2018) (5)
- Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma. (2020) (5)
- Genomic structure and chromosomal localization of the human GDNFR-alpha gene. (1998) (4)
- Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism (2021) (4)
- WWP1 germline variants are associated with normocephalic autism spectrum disorder (2020) (4)
- Rectal Cancer: Age Matters in the Affairs of Stage. (2015) (4)
- Development and progression of thyroid disease in PTEN hamartoma tumor syndrome: refined surveillance recommendations. (2022) (4)
- Erratum: Genetic testing for cancer predisposition (Annual Review of Medicine (2001) 52 (371-400)) (2002) (4)
- Intragenic EGFR and EGFR2 mutations in hepatobiliary tumors and potential role in predicting response to agents that target EGFR (2005) (4)
- How to spot heritable breast cancer: A primary care physician’s guide (2014) (4)
- Blood and Lymph (2014) (4)
- Germline PARP 4 mutations in patients with primary thyroid and breast cancers (2016) (4)
- Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features (2017) (4)
- Does preventive oophorectomy increase the risk of depression in BRCA mutation carriers? (2020) (4)
- One is the loneliest number: genotypic matchmaking using the electronic health record (2021) (4)
- Breastfeeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers (2012) (4)
- Case 13-2001: genetic testing in pheochromocytoma. (2001) (4)
- Monogenetic hypertension and pheochromocytoma. (1996) (4)
- Interpretable deep learning translation of GWAS and multi-omics findings to identify pathobiology and drug repurposing in Alzheimer’s disease (2022) (4)
- Psychiatric Characteristics Across Individuals With PTEN Mutations (2021) (4)
- Weight Gain and the Risk of Ovarian Cancer in BRCA1 and BRCA2 Mutation Carriers (2021) (3)
- The development of a clinical screening tool for tumour predisposition syndromes in childhood cancer patients (2013) (3)
- Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts (2019) (3)
- Survival from breast cancer in women with a BRCA2 mutation by treatment (2021) (3)
- CASE 4. Fibrocystic breast disease in a 16-year-old female with PTEN hamartoma tumor syndrome. (2006) (3)
- De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities (2021) (3)
- REVIEW ARTICLE Protean PTEN: Form and Function (2002) (3)
- Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk. (2022) (3)
- Hunting for cancer in the microbial jungle (2013) (3)
- Genome-wide tracts of homozygosity and exome analyses reveal repetitive elements with Barrets esophagus/esophageal adenocarcinoma risk (2019) (3)
- Structural and Dynamic Effects of PTEN C-terminal Tail Phosphorylation (2021) (3)
- A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome (2022) (3)
- Ancestrally unbiased polygenic breast cancer (BC) risk assessment. (2021) (3)
- Response to Bayley: Functional Study Informs Bioinformatic Analysis (2011) (3)
- Early-onset renal cell carcinoma in PTEN harmatoma tumour syndrome (2020) (3)
- Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA (2019) (3)
- No PTEN protein and altered downstream signaling due to heterozygous germline PTEN mutations in Cowden syndrome (2003) (3)
- The effect of oral Metronidazole on the vaginal microbiome of patients with recurrent bacterial vaginosis: A pilot investigational study (2021) (3)
- Pro-tumorigenic non-pump function of sodium iodide symporter: A reimagined Trojan horse? (2019) (3)
- PTEN mutations and Proteus syndrome [2] (multiple letters) (2001) (3)
- Endoscopic Findings in Patients With PTEN Hamartoma Tumor Syndrome Undergoing Surveillance (2021) (3)
- Management of Paraganglioma (2009) (3)
- Distinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations (2022) (3)
- Erratum: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia (The American Journal of Human Genetics (2019) 105(2) (413–424), (S0002929719302393), (10.1016/j.ajhg.2019.06.014)) (2019) (3)
- Protein-kinase A and human disease: The core of cAMP-dependent signaling in health and disease (2002) (3)
- Early-onset renal cell carcinoma in PTEN harmatoma tumour syndrome. (2020) (3)
- Human genome meeting 2016 (2016) (3)
- Evil lurks in the heart of man: cardiac paraganglioma presenting as recurrent dyspnoea and chronic cough (2011) (2)
- Clinical and molecular features of pediatric cancer patients with Lynch syndrome (2021) (2)
- 29 Clinical benefit of enzyme replacement therapy (ERT) in mucopolysaccharidosis II (MPS II, Hunter syndrome) (2007) (2)
- Prenatal Genetic Screening in the Ashkenazi Jewish Population: A Pilot Program of Multiple Option Testing for Five Disorders † 712 (1998) (2)
- ERRATUM: Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium (2014) (2)
- AMELIE 3: Fully Automated Mendelian Patient Reanalysis at Under 1 Alert per Patient per Year (2021) (2)
- POGZ truncating alleles cause syndromic intellectual disability (2016) (2)
- 39 Formation of a Lysosomal Disease Testing Network to enhance the delivery of diagnostic services to patients with lysosomal storage disorders (2007) (2)
- Abstract IA16: Evaluating the implementation and utility of clinical tumor exome sequencing in the pediatric oncology clinic: Early results of the BASIC3 study (2014) (2)
- Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy (2021) (2)
- Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits (2022) (2)
- Sequencing individual genomes with recurrent deletions reveals allelic architecture and disease loci for autosomal recessive traits (2021) (2)
- What’s in an exome? Diversity of diagnostic and incidental findings revealed by clinical tumor and germline sequencing of 100 children with solid tumors. (2014) (2)
- Abstract IA16: Clinical genomics for children with solid tumors: Current realities and future opportunities (2016) (2)
- Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients (2014) (2)
- Oh GxE! The Complexity of Body Mass Index and Colon Cancer Risk. (2020) (2)
- Redefining the PTEN promoter: Identification of novel upstream transcription start regions. (2021) (2)
- HABP2 in Familial Nonmedullary Thyroid Cancer: Will the Real Mutation Please Stand Up? (2016) (2)
- The Prevalence of GERD in Patients with Esophageal Adenocarcinoma (EAC) and Esophagogastric Junctional Adenocarcinoma (EGJAC) (2005) (2)
- A Practical Guide to Human Cancer Genetics: Genetic counselling in a familial cancer clinic (2006) (2)
- 65 YEARS OF THE DOUBLE HELIX: It's all in the DNA: understanding and managing endocrine neoplasms. (2018) (2)
- Characterizing dermatologic findings among patients with PTEN hamartoma tumor syndrome: results of a multi-center cohort study. (2022) (2)
- Multimodal Single-Cell Omics Analysis of COVID-19 Sex Differences in Human Immune Systems (2020) (2)
- Thoracic adenopathy: metastatic seminoma or sarcoid? (1992) (2)
- Microbiome signature of bile from pancreatic and biliary tract cancer patients: A pilot study. (2019) (2)
- The Role of MMAC 1 Mutations in Early-Onset Breast Cancer : Causative in Association with Cowden Syndrome and Excluded in BRCA 1-Negative Cases (2006) (2)
- Multiple endocrine neoplasia type 2 and related genetic conditions (1995) (2)
- Nuclear KLLN expression associates with improved relapse-free survival for prostate carcinoma. (2014) (2)
- Exome sequencing in familial colorectal cancer: searching for needles in haystacks. (2014) (2)
- Identification of nuclear export signal in KLLN suggests potential role in proteasomal degradation in cancer cells (2020) (2)
- A Multimodal Approach to Discover Biomarkers for Taxane-Induced Peripheral Neuropathy (TIPN): A Study Protocol (2022) (2)
- Exome Sequencing Reveals Germline SMAD9 Mutation that Reduces PTEN Expression and is Associated with Hamartomatous Polyposis and Gastrointestinal Ganglioneuromas (2015) (2)
- Pneumococcal bacteraemia in immunocompetent adults. Authors' reply (1991) (2)
- Personalizing patient care (2012) (2)
- Inherited pheochromocytoma. (1997) (2)
- A novel PTEN mutation in Cowden syndrome is associated with a mixed degenerative‐erosive arthritic process: Potential molecular pathogenic mechanisms (2007) (2)
- Higher prevalence of Hirschsprung disease in China explained by a common RET mutation (2006) (2)
- Peroxisome Proliferator-activated Receptor γ-mediated Differentiation (2003) (2)
- Serendipity, fate, science and leadership (2005) (2)
- Human breast microbiome correlates with prognostic features and immunological signatures in breast cancer (2021) (2)
- Brain single cell transcriptomic profiles in episodic memory phenotypes associated with temporal lobe epilepsy (2022) (2)
- Genetic Predisposition to Cancer, 2Ed (2004) (1)
- Hunting for cancer in the microbial jungle (2013) (1)
- Erratum: PTEN blocks insulin-mediated ETS-2 phosphorylation through MAP kinase, independently of the phosphoinositide 3-kinase pathway (Human Molecular Genetics (2002) vol. 11 (1687-1696)) (2003) (1)
- Isolation, mapping, and characterization of two cDNA clones expressed in the cerebellum. (1992) (1)
- Fecal microbiota of adolescent and young adult cancer survivors and metabolic syndrome: an exploratory study (2022) (1)
- 601: Rapid prenatal diagnosis of cytogenetic abnormalities by array CGH analysis (2007) (1)
- Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome (2019) (1)
- BluepRINT for moderate-to-low penetrance cancer susceptibility genes needed: breast cancer and beyond. (2014) (1)
- 183. MICROBIOME IN AORTITIS (2019) (1)
- Ophthalmic Phenotypes in Cowden Syndrome Associated With Germline PTEN Mutations (2010) (1)
- Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (2021) (1)
- Thyroglobulin in Metastatic Thyroid Cancer: Culprit or Red Herring? (2017) (1)
- Cover Image, Volume 40, Issue 3 (2019) (1)
- Into the eye of the storm: breast cancer's somatic mutation landscape points to DNA damage and repair. (2013) (1)
- Neural transcriptome of constitutional Pten dysfunction in (2015) (1)
- 20 patients with 2 q 37 . 3 monosomy : definition of minimum deletion intervals for key phenotypes (2004) (1)
- De Novo RPS20 Mutations in Diamond Blackfan Anemia (2014) (1)
- Genetic screening in hereditary medullary thyroid carcinoma (1997) (1)
- Comparison of family health history to personal genomic screening for risk assessment of colon cancer (2011) (1)
- Bilateral Oophorectomy and the Risk of Breast Cancer in BRCA1 Mutation Carriers: a Reappraisal. (2022) (1)
- Clinical utility of non‐invasive prenatal screening for common dominant monogenic disorders: 930 (2019) (1)
- A reinvestigation of somatic hypermethylation at the PTEN CpG island in cancer cell lines (2012) (1)
- Companion Diagnostics and Cancer Biomarkers Activation of AR Sensitizes Breast Carcinomas to NVP-BEZ 235 ' s Therapeutic Effect Mediated by PTEN and KLLN Upregulation (2014) (1)
- Thyroid cancer genetics: how close are we to personalizing clinical management? (2012) (1)
- Implementation and evaluation of clinical exome sequencing in childhood cancer care: The BASIC3 study. (2013) (1)
- A Phase II study of the efficacy and tolerability of Lapatinib in patients with advanced hepatocellular carcinomas. (2008) (1)
- Effect of kinesins on taxane resistance. (2010) (1)
- Development and Validation of a Breast Cancer Polygenic Risk Score on the Basis of Genetic Ancestry Composition (2022) (1)
- Inherited Cancer Syndromes (2004) (1)
- Abstract 11: Evaluating cancer susceptibility mutations and incidental findings from whole exome sequencing of sequentially diagnosed pediatric solid and brain tumor patients: Early results of the BASIC3 study (2014) (1)
- Comprar A Practical Guide To Human Cancer Genetics | Hodgson, S. | 9781447123743 | Springer (2014) (1)
- Molecular and subregion mechanisms of episodic memory phenotypes in temporal lobe epilepsy (2022) (1)
- Pneumococcal bacteraemia in two immunocompetent adults with otitis media and bronchitis (1990) (1)
- Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients (2021) (1)
- The role of genetic polymorphisms in executive functioning performance in temporal lobe epilepsy (2021) (1)
- ChengF-Lab/mutanome v1.1 (2021) (1)
- Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations (2021) (1)
- Molecular Basis of Thyroid Cancer (2005) (1)
- Germline SDHB/C/D variation and KLLN promoter methylation in endometrial cancer patients with Cowden and Cowden-like syndrome (2014) (1)
- Role of Parent-Reported Executive Functioning and Anxiety inInsistence on Sameness in Individuals with Germline PTENMutations (2022) (1)
- Second malignant neoplasms (SMN) in Cowden syndrome patients with underlying germline PTEN mutations. (2013) (1)
- Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations (2021) (1)
- The International Hirschsprung's Disease Consortium: differential liabiilties of coding and non-coding mutations in complex disease (2006) (1)
- Interplay Between Class II HLA Genotypes and the Microbiome and Immune Phenotypes in Individuals With PTEN Hamartoma Tumor Syndrome (2021) (1)
- Comparative Protein Structural Network Analysis Reveals C-Terminal Tail Phosphorylation Structural Communication Fingerprint in PTEN-Associated Mutations in Autism and Cancer. (2023) (1)
- Short Communication Characterization of a recurrent 3.8 kb deletion involving exons 17a and 17b within the CFTR gene (2013) (1)
- Characterizing the vaginal microbiome in women with recurrent bacterial vaginosis and treatment implications (2019) (1)
- A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases (2021) (1)
- Enhanced Proteasome Activity Cowden Syndrome-Related Mutations in PTEN (2013) (1)
- Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract (2019) (1)
- In memorium: Robert J. Gorlin, DDS, MS (1923-2006): A Geneticist for All Seasons (2007) (1)
- Lifetime Cancer Risks of PTEN Mutation Carriers—Response (2012) (1)
- Visual Analysis of Tracts of Homozygosity in Human Genome (2013) (1)
- Familial Breast and Ovarian Cancer: Cowden syndrome and related disorders (2002) (1)
- PTEN Hamartoma Tumor Syndrome: A Case of Renal Cell Carcinoma in a Young Female. (2020) (1)
- Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (2021) (1)
- New Genetic and Genomic Approaches in the Post-GWAS Era – Back to the Future (2015) (1)
- Metabolic stress regulates genome-wide transcription in a PTEN-dependent manner. (2020) (1)
- Non-canonical role of wild-type SEC23B in the cellular stress response pathway (2021) (1)
- Lessons learned from additional research analyses of unsolved clinical exome cases (2017) (1)
- Transcriptome-(phospho)proteome characterization of brain of a germline model of cytoplasmic-predominant Pten expression with autism-like phenotypes (2021) (1)
- Engaging basic scientists in translational research. (2012) (1)
- Pneumococcal bacteraemia in immunocompetent adults (1991) (1)
- 2574. Temporal Changes in the Vaginal Microbiome During Treatment for Bacterial Vaginosis: Is Lactobacillus Iners an Important Player? (2019) (0)
- Time studies of the tasks associated with comprehensive cancer genetics counseling. (2014) (0)
- Inherited Cancer-Predisposing Syndomes (2014) (0)
- Subject Index Vol. 47, 1997 (1997) (0)
- A case of Schindler disease in the setting of familial cardiomyopathy (2018) (0)
- Comprehensive characterization of protein-protein interaction network perturbations by human disease mutations (2020) (0)
- Cancer Risk Associated With PTEN Pathogenic Variants Identified Using Multigene Hereditary Cancer Panel Testing (2023) (0)
- Abstract 3596: KLLN protects genomic stability by maintaining H3K9 trimethylation (H3K9me3) at the pericentric heterochromatin (2016) (0)
- Prevention Medicine in Bilateral Phaeochromocytoma (2018) (0)
- A Practical Guide to Human Cancer Genetics: Musculoskeletal system (2006) (0)
- Includes: Bannayan-Riley-Ruvalcaba Syndrome (Bannayan-Ruvalcaba-Riley Syndrome, Bannayan-Zonana Syndrome, Riley-Smith Syndrome, Ruvalcaba- Myhre-Smith Syndrome), Cowden Syndrome, Proteus Syndrome, Proteus-Like Syndrome (2011) (0)
- PTEN and Cowden Syndrome (2007) (0)
- Chapter 44. PTEN Hamartoma Tumor Syndrome (2010) (0)
- Figure 1. [Trichilemmoma]. (2016) (0)
- Psychosocial, Ethical and Organisational Issues (2004) (0)
- Proteasome Dysfunction through Caspase-Mediated Degradation in Cells with Deleted on Chromosome 10 Protein Stability Partially p 53 Down-Regulates Phosphatase and Tensin Homologue (2006) (0)
- Notice of Correction. (2023) (0)
- Research Highlights: Highlights from the latest articles in personalized medicine. (2013) (0)
- HEREDITARY PHEOCHROMOCYTOMA ASSOCIATED WITH SDHB GENE GERMLINE MUTATION: P1.194 (2004) (0)
- Table 1. [Molecular Genetic Testing Used in MEN 2]. (2015) (0)
- A Practical Guide to Human Cancer Genetics: References (2006) (0)
- Genomics A Novel Germline Mutation in BAP 1 Predisposes to Familial Clear-Cell Renal Cell Carcinoma (2013) (0)
- A Practical Guide to Human Cancer Genetics: Eye (2006) (0)
- Maternal and Fetal Outcomes in Pheochromocytoma and Pregnancy: a multi-center retrospective cohort study and systematic review of literature (2020) (0)
- Correlation of microbiomic profiles with disease status and MDR1 methylation in head and neck squamous cell carcinoma (HNSCC). (2012) (0)
- Tu1219 THE EFFICACY OF UPPER ENDOSCOPIC SURVEILLANCE IN COWDEN'S SYNDROME (2020) (0)
- Use of PTEN protein dosage to predict for underlying germ-line PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes. (2012) (0)
- Abstract 400: Noncanonical role ofSEC23Bin thyroid carcinogenesis: Anemia gene meets cancer (2018) (0)
- Abstract P4-06-04: Germline alterations in African-American versus Caucasian patients with triple-negative breast cancer in the era of multi-gene panel testing (2018) (0)
- Erratum to: Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits (2016) (0)
- OP-JNCI200061 5..6 (2020) (0)
- A Practical Guide to Human Cancer Genetics: Endocrine system (2006) (0)
- PPAR³ And MMP Genetic Variants Are Associated With Sarcoidosis Susceptibility: identification Of Gene-smoking Interactions (2010) (0)
- Abstract 4087: Microbiomic subprofiles and MDR1 promoter methylation in head and neck squamous cell carcinoma (2012) (0)
- 1. Germline EGFR variants over-represented in adolescent and young adult (AYA) females with adrenocortical carcinoma (2020) (0)
- A breast cancer (BC) risk model incorporating Tyrer-Cuzick version 8 (TCv8) and a polygenic risk score (PRS) for diverse ancestries. (2022) (0)
- Gastrointestinal polyposis and PTEN mutations: an under-acknowledged diagnostic criterion (2010) (0)
- Abstract P1-10-01: Defining the spectrum of germline variants among African American patients with triple negative breast cancer (2019) (0)
- Genetic disorders of endocrine neoplasia. Introduction.. (2001) (0)
- Cardiorespiratory System and Thorax (2014) (0)
- Abstract PD14-05: PD14-05 Prospective longitudinal validation of a breast cancer risk prediction model in a cohort of 130,058 women (2023) (0)
- The multiple endocrine neoplasia type 2 syndromes and Hirschsprung disease are due to different mutations in the receptor tyrosine kinase ret (1994) (0)
- Table 2. [Disorders to Consider in the Differential Diagnosis of PTEN Hamartoma Tumor Syndrome]. (2016) (0)
- Abstract 1810: PTEN association with mTOR pathway activation and outcomes in bladder cancer (2010) (0)
- Table 1. [Molecular Genetic Testing Used in PTEN Hamartoma Tumor Syndrome]. (2016) (0)
- The APCs of PTCs: Adenomatous Polyposis Syndrome and the Thyroid. (2020) (0)
- Molecular Genetic Profiling Identify the Involvement of Different Molecular Pathways in the Pathogenesis of Aggressive Uveal and Cutaneous Melanomas (2005) (0)
- Abstract 3480: Germline PARP4 mutations in patients with primary thyroid and breast cancers (2016) (0)
- Abstract 4911: HPV-independent methylation of specific TGF-B pathway-relevant genes in head and neck squamous cell carcinomas associated with prior radiation therapy and exposure to alcohol and tobacco (2010) (0)
- OR29-4 Pregnancy Outcomes in Women with Pheochromocytoma and Paraganglioma: An International Multi-Center Study (2019) (0)
- Cytomegalovirus Immunity after Vaccination with Autologous Glioblastoma Lysate (2008) (0)
- Table 2. [Percent of Clinical Features by MEN 2 Subtype]. (2015) (0)
- Abstract 317: Role of KLLN in DNA damage-induced apoptosis is associated with the regulation of p53 phosphorylation and acetylation in breast cancer cells (2018) (0)
- Genome-wide tracts of homozygosity and exome analyses reveal repetitive elements with Barrets esophagus/esophageal adenocarcinoma risk (2019) (0)
- Abstract CN04-04: Cancer predisposition: I say genetics, you say genomics, but are we there yet? (2010) (0)
- Exome sequencing reveals a distinct somatic genomic landscape in breast cancer from women with germline PTEN variants. (2022) (0)
- Expression arrays in thyroid cancer (2005) (0)
- INVITED EDITORIAL Molecular Classification of the Inherited Hamartoma Polyposis Syndromes: Clearing the Muddied Waters (1998) (0)
- Clinical Spectrum and Science Behind the Hamartomatous Polyposis Syndromes. (2023) (0)
- Transcriptome-(Phospho)proteome Characterization of the Brain of a Constitutional Model of Cytoplasmic-predominant Pten Expression With Autism-Like Phenotypes (2020) (0)
- Assessing Risk for Gastrointestinal Cancers: Forewarned Is Forearmed. (2023) (0)
- Role of combined germline pharmacogenomic and somatic genomic analysis in personalized cancer therapy: Non-small cell lung cancer (NSCLC) case study. (2015) (0)
- The pursuit of knowledge has no end (2012) (0)
- Table 3. [Selected PTEN Recurrent Pathogenic Variants]. (2016) (0)
- International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation (2019) (0)
- Something old, something new. (2011) (0)
- DNA methylation as a molecular relic to recapitulate tumor progression in breast cancer (0)
- Redefining the PTEN Promoter: Identification of Two Upstream Transcription Start Regions (2021) (0)
- Over expression of human microRNAs contribute to follicular thyroid carcinogenesis (FTC) (2006) (0)
- Expression of vascular endothelial growth factor (VEGF) in uveal melanoma is independent of the copy number of 6p21 region (2004) (0)
- for Juvenile Polyposis Syndrome 24 As the Susceptibility Locus − and 10 q 22 PTEN Exclusion of Updated Version (2006) (0)
- BDNF rs6265 Met and COMT rs4680 Val are Associated with Psychiatric Symptomatology in Pharmacoresistant Epilepsy (S53.001) (2018) (0)
- Focused Plenary Focused Plenary Session II-Translational Research Abstracts 16-21 16 BRCA1/BRCA2 polymorphisms and prognosis in women with optimally resected stage III epithelial ovarian cancer treated on GOG protocol 172: A Gynecologic Oncology Group study (2009) (0)
- High frequency of large gene deletions and rearrangements in Lynch syndrome--back to the future? (2005) (0)
- Erratum: Familial cancer syndromes (The Lancet (Mar 19, p 709)) (1994) (0)
- Pheochromocytoma – where are we? Where should we go? A medical and scientific odyssey (2005) (0)
- PTEN mutations: help spot thyroid cancer before it occurs (2012) (0)
- Heritable Clustering Algorithms for Recapturing Epigenetic Progression in Breast Cancer (2006) (0)
- Erratum: (Cancer Research (November 1, 1997) (4710-4713)) (1998) (0)
- A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing (2019) (0)
- MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death (2016) (0)
- A Practical Guide to Human Cancer Genetics: Urinary system (2006) (0)
- Human genome meeting 2016 (2016) (0)
- Genetic diagnoses of arthrogryposis by clinical exome or microarray and identification of a new candidate gene: ICE1 (2021) (0)
- De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities (2021) (0)
- Risk for endometrial carcinoma, ovarian tumors and other gynecologic diagnoses in a prospective series of women with cowden syndrome and germline PTEN mutation (2012) (0)
- 708: Oligo-based array CGH on a single cell - the way toward noninvasive prenatal diagnosis of genomic imbalance (2009) (0)
- Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features (2017) (0)
- Molecular Prenatal Diagnostic Testing (2012) (0)
- Abstract 4283: A structure network approach to predict the dynamics and structural stability effects of germlinePTENmutations associated with cancer versus autism phenotypes (2018) (0)
- 28. Characterization of symptom onset and clinical events in patients with Fabry disease: Findings from the Fabry Registry (2008) (0)
- The Microbiome of Pediatric and Young Adult Cancer Survivors and Metabolic Syndrome (2020) (0)
- Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach (2020) (0)
- Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment (2023) (0)
- Evaluation of an Automated Genome Interpretation Model for Rare Disease Routinely Used in a Clinical Genetic Lab. (2023) (0)
- Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features (2017) (0)
- Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder (2018) (0)
- Diagnostic Techniques Critical Factors in the Performance and Cost of Two-Dimensional Gene Scanning : RB 1 as a Model (1999) (0)
- 27. Nephropathy in Fabry disease: Baseline characteristics of 1262 patients in the Fabry Registry (2008) (0)
- Abstract 04: Impact of whole exome sequencing results on clinical decision making for pediatric solid tumor patients in the hypothetical scenario of tumor relapse: A survey of pediatric oncologists (2016) (0)
- A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative (2018) (0)
- Participation in a national diagnostic research study: assessing the patient experience (2023) (0)
- eP337: Rapid Genome Sequencing (rGS) as first tier test for critically ill children with suspected genetic etiology (2022) (0)
- CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels (2020) (0)
- DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract (2019) (0)
- On the shoulders of giants. (2021) (0)
- 482 Safety and Efficacy of Velaglucerase Alfa in Gaucher Disease Type 1 Patients Previously Treated with Imiglucerase (2010) (0)
- Lysosomal Disease Network's "WORLD Symposium 2008" (2008) (0)
- eP421: Development of an in-house whole transcriptome test for evaluation of splicing VUS variants: Experience and challenges in variant interpretation (2022) (0)
- Bi-allelic variants in INTS11 are associated with a complex neurological disorder. (2023) (0)
- Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns (2017) (0)
- Reviewer Acknowledgment 2016 (2017) (0)
- Germline findings based on patient phenotype of the Texas KidsCanSeq cohort: an interim analysis (2021) (0)
- Germline Genomic Homozygosity and Cancer Risk—Reply (2008) (0)
- Correction: Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach (2020) (0)
- Tu2015 GASTROINTESTINAL AND HEPATIC MANIFESTATIONS OF PTEN HAMARTOMA TUMOR SYNDROME IN CHILDREN: A RETROSPECTIVE REVIEW FROM A LARGE MEDICAL CENTER WITH A PTEN MULTIDISCIPLINARY TEAM (2020) (0)
- Whole-genome sequencing: not yet making the clinical grade. (2014) (0)
- TBIO-20. CLINICAL TUMOR WHOLE EXOME SEQUENCING FOR PEDIATRIC NEURO-ONCOLOGY PATIENTS – RESULTS FROM THE BAYLOR ADVANCING SEQUENCING IN CHILDHOOD CANCER CARE (BASIC3) CLINICAL SEQUENCING STUDY (2018) (0)
- eP474: Prenatal exome sequencing analysis in the clinical setting of fetuses with structural anomalies or increased nuchal translucency (2022) (0)
- Lysosomal Disease Network's "WORLD Symposium 2009". Introduction. (2009) (0)
- Abstract 5169: Diagnostic yield of clinical tumor and germline exome sequencing for newly diagnosed children with solid tumors (2014) (0)
- The effects of rosiglitazone therapy in early stage breast cancer (2006) (0)
- MUCOPOLYSACCHARIDOSIS VI (MAROTEAUX-LAMY SYNDROME): DEVELOPMENT OF CLINICAL AND LABORATORY GUIDELINES FOR DIAGNOSIS (2012) (0)
- Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases (2019) (0)
- A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics (2016) (0)
- Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy (2013) (0)
- NatureandFrequency ofMutations inthea-Galactosidase A GeneThatCauseFabryDisease (1993) (0)
- Correction: Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach (2020) (0)
- A Practical Guide to Human Cancer Genetics: Skin (2006) (0)
- Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel (2019) (0)
- Table 4. [Risk for Aggressive MTC Based on Genotype and Recommended Interventions]. (2015) (0)
- CORRIGENDUM: Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome (2013) (0)
- 94. Clinical phenotype of North American patients with Hunter syndrome: Data from HOS: The Hunter Outcome Survey (2009) (0)
- PTEN-Related Overgrowth Syndromes (2019) (0)
- Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome (2019) (0)
- VarSight: prioritizing clinically reported variants with binary classification algorithms (2019) (0)
- A novel tumor suppressor gene on chromosome 10 and its role in endocrine neoplasia (1998) (0)
- Abstract 1120: α-Tocopherol protects cells from lipid peroxidation and rescues tumorigenic phenotypes in CS/CSL patients with germline SDHx variants (2012) (0)
- Familial hyperparathyroidism : Surgical outcome after 30 years of follow-up in 3 families with germline HRPT2 mutations. Authors' rpely (2009) (0)
- Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA (2019) (0)
- Contents, Vol. 47, 1997 (1997) (0)
- Abstract P2-11-21: Integration of an ancestrally unbiased polygenic risk score with the Tyrer-Cuzick breast cancer risk model (2022) (0)
- EFFICACY OF VELAGLUCERASE ALFA IN PATIENTS WITH TYPE 1 GAUCHER DISEASE (GD1) TRANSITIONED FROM IMIGLUCERASE: PHASE II/III TRIALTKT034 AND EXTENSION 2-YEAR RESULTS (2011) (0)
- Cancer (Epi)Genomics Comes of Age. (2020) (0)
- 2-YEAR SAFETY AND TOLERABILITY OF VELAGLUCERASE ALFA ENZYME REPLACEMENT THERAPY (ERT) IN PATIENTS WITH TYPE 1 GAUCHER DISEASE (GD1) SWITCHING FROM IMIGLUCERASE (2011) (0)
- Exome Sequencing: Applications From the Lab Bench to the Clinic. (2013) (0)
- High frequency of submicroscopic hemizygous deletion and loss of expression of PTEN in uveal melanoma is associated with more aggressive tumors (2005) (0)
- Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies (2018) (0)
- De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities (2018) (0)
- Genetic diagnosis through whole-exome sequencing. (2014) (0)
- Oral Abstracts of the ISPD 20th International Conference on Prenatal Diagnosis and Therapy, Berlin, Germany, 10–13 July 2016 (2016) (0)
- A Practical Guide to Human Cancer Genetics: Gastrointestinal system (2006) (0)
- ASSESSING THE UTILITY OF CLINICAL TUMOR SEQUENCING IN THE PEDIATRIC NEURO-ONCOLOGY CLINIC (2014) (0)
- Enzyme Replacement and Other Therapies for the Lysosomal Storage Disorders (2014) (0)
- Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions (2020) (0)
- Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations (2017) (0)
- Fabry Disease: Eighteen Mutations in the α-Galactosidase A Gene Causing the Classic Phenotype. † 599 (1997) (0)
- De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome (2019) (0)
- 3D structural human interactome reveals proteome-wide perturbations by disease mutations (2023) (0)
- 41. Characterization of Fabry disease in 283 pediatric patients in the Fabry Registry (2008) (0)
- Largescale population genomics versus deep phenotyping: Brute force or elegant pragmatism towards precision medicine (2019) (0)
- KLLN-mediated DNA damage-induced apoptosis is associated with regulation of p53 phosphorylation and acetylation in breast cancer cells (2018) (0)
- Quantitative trait locus (xQTL) approaches identify risk genes and drug targets from non-coding genome findings. (2022) (0)
- Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change (2023) (0)
- Two's Company, Three's a Crowd: Rb1/Trp53/Pten Trifecta and Lung Cancer Molecular and Histopathologic Heterogeneity. (2023) (0)
- Longitudinal Analysis of Cancer Risk in Children and Adults With Germline PTEN Variants (2023) (0)
- A Twin Study of Heritable and Shared Environmental Contributions to Autism (2014) (0)
- My personal mutanome: a computational genomic medicine platform for searching network perturbing alleles linking genotype to phenotype (2021) (0)
- Genetics and genomics in healthcare: the future is now (2023) (0)
- Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors (2020) (0)
- P063: Prospective longitudinal validation of a breast cancer risk prediction model in a cohort of 130,058 individuals* (2023) (0)
- Targeting the Cx26/NANOG/Focal Adhesion Kinase Complex via Cell-Penetrating Peptides in Triple-Negative Breast Cancers (2021) (0)
- Are population level familial risks and germline genetics meeting each other? (2023) (0)
- Germline TTN variants are enriched in PTEN-wildtype Bannayan–Riley–Ruvalcaba syndrome (2017) (0)
- Microbiomic differences in tumor and paired-normal tissue in head and neck squamous cell carcinomas (2017) (0)
- Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes. (2023) (0)
- Engaging basic scientists in translational research: identifying opportunities, overcoming obstacles (2012) (0)
- Distinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations (2022) (0)
- The Mechanism of Full Activation of Tumor Suppressor PTEN at the Phosphatidylinositol-Enriched Membrane (2021) (0)
- The Mitochondrial Genome as a Modifier of Autism versus Cancer Phenotypes in PTEN Hamartoma Tumor Syndrome (2023) (0)
- Genetics of PTEN in Cowden Syndrome and Sporadic Breast Cancer (1999) (0)
- A Practical Guide to Human Cancer Genetics: Contents (2006) (0)
- Cancer watch (vol. 1) (1993) (0)
- 18 Direct Sequencing for Cowden Syndrome Gene PTEN (MMAC1) Mutations. (2001) (0)
- Genes Encoding Mitochondrial Enzyme Succinate Dehydrogenase Provide More Power for Breast Cancer Risk Assessment (2009) (0)
- Structure‐based Computational Modeling of Germline PTEN Mutations in Cancer and Autism Risk: Implications for Therapeutic Targeting (2022) (0)
- Interview: From high school dream to genomic medicine reality (2008) (0)
- Tu1217 THE EFFICACY OF LOWER ENDOSCOPIC SURVEILLANCE IN COWDEN'S SYNDROME (2020) (0)
- Rectal Cancer: Age Matters in the Affairs of Stage. (2016) (0)
- A Practical Guide to Human Cancer Genetics: Blood and lymph (2006) (0)
- One Size Does Not Fit All: Breast Cancer in Young Women. (2022) (0)
- Accompanying Editorial: Importance of Human Touch (2004) (0)
- Germline Genomic Homozygosity and Cancer Risk. Authors' reply (2008) (0)
- RASAL1 in t hyroid Cancer: Wisdom From an o ld Foe (2013) (0)
- De novo RET Mutation Positive Multiple Endocrine Neoplasia Type 2B and Hereditary Nonpolyposis Colorectal Cancer Syndrome Occurring in the Same Family: Parent-of-Origin and Mismatch Repair (2000) (0)
- 184. THE MICROBIOME OF TEMPORAL ARTERIES (2019) (0)
- Balancing Proliferation and Connectivity in PTEN-associated Autism Spectrum Disorder (2015) (0)
- Genetic Alterations in Epithelial and Stromal Compartments of Prostate Adenocarcinomas (2006) (0)
- Lindau disease in familial phaeochromocytoma (0)
- Tumor suppressor gene, PTEN, regulates activity of phospholipase C (PLC) and phospholipase D (PLD) (2005) (0)
- Abstract 2780: IL13RA2 is differentially regulated in papillary thyroid carcinoma versus follicular thyroid carcinoma (2019) (0)
- Abstract 4855: KLLN, which shares a bidirectional promoter with PTEN, is an AR-regulated tumor suppressor, and induces p53-dependent and -independent apoptosis in breast cancer (2012) (0)
- A Novel Phosphatase Gene on 10q23, MINNP, in Hereditary and Sporadic Breast Cancer (2002) (0)
- Outcome and response to neoadjuvant chemotherapy in patients with advanced stage Müllerian cancer in BRCA1/2 mutation-positive compared to mutation-negative women (2014) (0)
- Clinical Implications of Microsatellite Instability in Rectal Cancer (2016) (0)
- A Practical Guide to Human Cancer Genetics: Central nervous system (2006) (0)
- Notice of Correction. (2016) (0)
- Reply to G. Le Flahec et al. (2017) (0)
- Transcriptome-(phospho)proteome characterization of brain of a germline model of cytoplasmic-predominant Pten expression with autism-like phenotypes (2021) (0)
- Neoplasms of Thyroid: Follicular thyroid carcinoma (2017) (0)
- PTEN mutations in Proteus and Proteus-like syndromes (2000) (0)
- r r 6 6 PTENPTEN Hamartoma Tumor Syndrome : variabilityy of an entity (2007) (0)
- A Practical Guide to Human Cancer Genetics: Reproductive system (2006) (0)
- Abstract 3732: Detecting germline PTEN mutations among at-risk cancer patients: An age and gender-specific cost effectiveness analysis (2015) (0)
- Genetic and molecular features of seizure-freedom following surgical resections for focal epilepsy: A pilot study (2022) (0)
- 2576. The Microbiome of Recurrent Bacterial Vaginosis Compared with Asymptomatic Controls (2019) (0)
- Germline EGFR mutation and cancer predisposition in adolescent and young adult (AYA) females with adrenocortical carcinoma. (2019) (0)
- A Practical Guide to Human Cancer Genetics: Cardiorespiratory system and thorax (2006) (0)
- Correction to: Survival from breast cancer in women with a BRCA2 mutation by treatment (2023) (0)
- Predicting response to EGFR-tyrosine kinase inhibitors among diverse ancestries: Just way too polymorphic (2007) (0)
- CLINICAL CASE SEMINAR Balanced Translocation of 10q and 13q, Including the PTEN Gene, in a Boy with a Human Chorionic Gonadotropin-Secreting Tumor and the Bannayan-Riley-Ruvalcaba Syndrome (1999) (0)
- PTEN and Cowden and Bannayan-Riley-Ruvalcaba Syndromes (2016) (0)
- Lessons learnt from outstanding mid-career women in endocrine cancer research. (2016) (0)
- Risk factors for endometrial cancer among women with a BRCA1 or BRCA2 mutation: a case control study (2015) (0)
- A Practical Guide to Human Cancer Genetics: Inherited cancer-predisposing syndromes (2006) (0)
- Hereditary endocrine neoplasias: fundamental insights and the practice of clinical cancer genetics. (2001) (0)
- Squamous elements are terminally differentiated components of premalignant and malignant endometrial glandular neoplasia (2005) (0)
- The risks of cancer in older women with BRCA pathogenic variants: How far have we come? (2022) (0)
- PTEN germline mutations in patients first tested for other hereditary cancer syndromes: Would use of risk assessment tools have reduced health care costs? (2012) (0)
- [Table, GeneReview Scope]. (2015) (0)
- The clinical consequences of hemizygosity across 2 MB of 10q23 are restricted to Cowden syndrome (2012) (0)
- P PROGNOSIS IMPACT OF POSTOPERATIVE RADIATION IN PATIENTS WITH RADICAL ESOPHAGECTOMY AND PATHOLOGIC LYMPH NODES POSITIVE ESOPHAGEAL CANCER (2012) (0)
- Morphology and etiology of pheochromocytoma (2019) (0)
- Microbiomic profiles of bile in patients with benign and malignant pancreaticobiliary disease. (2021) (0)
- Chromosome Fragility Syndromes and the Gorlin Syndrome (2004) (0)
- Reduced Risk of Corporal Tumors in Patients With Head and Neck Paragangliomas With p.Pro81Leu Mutations. (2023) (0)
- Abstract 3260: Allele-specific tumor spectrum inPtenknockin mice (2010) (0)
- Figure 2. [Papillomatous papules in the periocular region (A) and on the dorsum of the hand (B)]. (2016) (0)
- Title: Integrated Analysis Reveals Critical Genomic Regions in Prostate Tumor- Microenvironment Associated with Clinico-pathologic Phenotypes (2012) (0)
- Prevalence and clinical predictors of germline PTEN mutation in endometrial cancer patients with Cowden and Cowden-like syndrome (2014) (0)
- 2894 The Gastrointestinal Phenotype of Cowden’s Syndrome and Effects of Surveillance (2019) (0)
- Abstract OT1-17-01: Protocol Description of Genetics and Inflammatory Markers to predict Chemotherapy-Induced Peripheral Neuropathy among Early Stage Breast Cancer Patients Receiving Taxane Therapy – GENIE Study (2023) (0)
- Abstract 4731: Resequencing of the MYC-335 enhancer in the colorectal cancer associated 8q24 region (2010) (0)
- Differential liabilities of coding and non-coding mutations in complex disease (2005) (0)
- Mutations intheRET proto-oncogene andthe vonHippel-Lindau disease tumoursuppressor geneinsporadic andsyndromic phaeochromocytomas (1995) (0)
- Passing of the baton. (2020) (0)
- Clinical Cancer Genomics (2014) (0)
- PTEN hamartoma-tumour syndrome: a model for the practice of clinical cancer genetics (2014) (0)
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