John Joseph Mulvihill
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John Joseph Mulvihillmathematics Degrees
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Mathematics
John Joseph Mulvihill's Degrees
- PhD Biostatistics University of California, Berkeley
- Masters Statistics Stanford University
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(Suggest an Edit or Addition)John Joseph Mulvihill'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
- Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. (1989) (3091)
- A cancer family syndrome in twenty-four kindreds. (1988) (1284)
- Study design and cohort characteristics of the Childhood Cancer Survivor Study: a multi-institutional collaborative project. (2002) (657)
- Localization of the gene for Cowden disease to chromosome 10q22–23 (1996) (641)
- The Childhood Cancer Survivor Study: a National Cancer Institute-supported resource for outcome and intervention research. (2009) (548)
- Long-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasms. (1986) (532)
- Germline mutations in the Von Hippel‐Lindau disease (VHL) gene in families from North America, Europe, and Japan (1996) (478)
- Ovarian failure and reproductive outcomes after childhood cancer treatment: results from the Childhood Cancer Survivor Study. (2009) (440)
- Developmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9 (1992) (432)
- NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update. (1990) (371)
- Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene (1987) (370)
- A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. (1997) (362)
- Effects of treatment on fertility in long-term survivors of childhood or adolescent cancer. (1987) (317)
- Early menopause in long-term survivors of cancer during adolescence (1992) (312)
- Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. (2006) (307)
- Malignancy in neurofibromatosis. (1985) (287)
- Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant risk (2008) (280)
- The genesis of dermatoglyphics. (1969) (230)
- Patterns of inheritance in hypertrophic cardiomyopathy: assessment by M-mode and two-dimensional echocardiography. (1984) (219)
- Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease (2018) (199)
- National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health. (2009) (175)
- The variable penetrance and spectrum of manifestations of multiple endocrine neoplasia type 1. (1998) (170)
- X-linked hypogammaglobulinemia and isolated growth hormone deficiency. (1980) (170)
- Evaluating the utility of personal genomic information (2009) (169)
- Genome-Wide Association Study Identifies a Novel Locus Contributing to Type 2 Diabetes Susceptibility in Sikhs of Punjabi Origin From India (2013) (168)
- Pregnancy outcome following cancer chemotherapy. (1980) (161)
- ATTEMPTED SUICIDE WITH PURIFIED AFLATOXIN (1980) (150)
- Multipoint linkage analysis in neurofibromatosis type I: an international collaboration. (1989) (147)
- Congenital anomalies in the children of cancer survivors: a report from the childhood cancer survivor study. (2012) (137)
- The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease. (2017) (131)
- Small head size after atomic irradiation. (1976) (129)
- The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine. (2016) (128)
- The management of brainstem gliomas in patients with neurofibromatosis 1 (1996) (127)
- GENETIC EFFECTS OF RADIOTHERAPY FOR CHILDHOOD CANCER (2003) (126)
- Psychosocial consequences of childhood and adolescent cancer survival. (1986) (124)
- RBPJ mutations identified in two families affected by Adams-Oliver syndrome. (2012) (118)
- Recommendations for the integration of genomics into clinical practice (2016) (115)
- Rhabdomyosarcoma complicating multiple neurofibromatosis. (1978) (113)
- Chromosomal abnormalities among offspring of childhood-cancer survivors in Denmark: a population-based study. (2004) (111)
- Pregnancy outcome in cancer patients. Experience in a large cooperative group (1987) (104)
- Reproductive problems and birth defects in survivors of Wilms' tumor and their relatives. (1988) (102)
- Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome. (1997) (101)
- Genetic disease in the children of Danish survivors of childhood and adolescent cancer. (2012) (97)
- CANCER IN OFFSPRING OF LONG-TERM SURVIVORS OF CHILDHOOD AND ADOLESCENT CANCER (1987) (95)
- Chromosome 2q terminal deletion: Report of 6 new patients and review of phenotype‐breakpoint correlations in 66 individuals (2004) (90)
- Graphs to estimate an individualized risk of breast cancer. (1996) (81)
- Stillbirth and neonatal death in relation to radiation exposure before conception: a retrospective cohort study (2010) (76)
- Fetal alcohol syndrome: seven new cases. (1976) (75)
- Craniofacial syndromes: no such thing as a single gene disease (1995) (75)
- Medical geneticists confront ethical dilemmas: cross-cultural comparisons among 18 nations. (1990) (75)
- Linkage analysis of multiple endocrine neoplasia type 1 with INT2 and other markers on chromosome 11. (1989) (73)
- Variants in KCNQ1 increase type II diabetes susceptibility in South Asians: A study of 3,310 subjects from India and the US (2011) (72)
- Cancer in siblings of children with cancer in the Nordic countries: a population-based cohort study (2001) (69)
- A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10 (1994) (69)
- Hepatic adenoma in Fanconi anemia treated with oxymetholone. (1975) (69)
- Individual differences in cancer susceptibility. (1980) (69)
- PPARG and ADIPOQ gene polymorphisms increase type 2 diabetes mellitus risk in Asian Indian Sikhs: Pro12Ala still remains as the strongest predictor. (2010) (68)
- Letter: Congenital heart defects and prenatal sex hormones. (1974) (68)
- Single nucleotide polymorphism in prohibitin 3′untranslated region and breast-cancer susceptibility (2001) (68)
- Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A. (1996) (67)
- TCF7L2 Polymorphisms are Associated with Type 2 Diabetes in Khatri Sikhs from North India: Genetic Variation Affects Lipid Levels (2008) (67)
- Pregnancy outcome in women with systemic lupus erythematosus treated with immunosuppressive drugs. (1993) (67)
- Nongonadal neoplasia in Turners syndrome (1970) (64)
- Assessing human germ‐cell mutagenesis in the Postgenome Era: A celebration of the legacy of William Lawson (Bill) Russell (2007) (62)
- Adams–Oliver syndrome review of the literature: Refining the diagnostic phenotype (2017) (59)
- Cytogenetics in hereditary malignant melanoma and dysplastic nevus syndrome: is dysplastic nevus syndrome a chromosome instability disorder? (1987) (58)
- Evidence of Genetic Heterogeneity in Five Kindreds With Familial Hypertrophic Cardiomyopathy (1992) (58)
- Plasma melatonin and the hormone-dependency of human breast cancer. (1985) (58)
- Automated classification of metaphase chromosomes: Optimization of an adaptive computerized scheme (2009) (57)
- A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents (2012) (56)
- Oligogenic combinations associated with breast cancer risk in women under 53 years of age (2005) (55)
- Inheritance of acute appendicitis: familial aggregation and evidence of polygenic transmission. (1990) (54)
- A dyadic approach to the delineation of diagnostic entities in clinical genomics. (2021) (54)
- Noise Pollution: Neonatal Aspects (1974) (52)
- Ethical issues of CRISPR technology and gene editing through the lens of solidarity (2017) (51)
- Reporting genomic secondary findings: ACMG members weigh in (2014) (51)
- The availability of insurance to long‐time survivors of childhood cancer (1986) (51)
- Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder (2018) (51)
- International Commission for Protection against Environmental Mutagens and Carcinogens. ICPEMC Working Paper 5/6. Perspectives in mutation epidemiology, 6. A 1983 view of sentinel phenotypes. (1983) (49)
- Sister chromatid exchanges and chromosomes in chronic myelogenous leukemia and cancer families (1979) (48)
- Pregnancy outcome in cancer patients. Experience in a large cooperative group. (1988) (48)
- SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma. (1986) (47)
- Studies in a kindred with parathyroid carcinoma. (1992) (47)
- Canine hip dysplasia: relative risk by sex, size, and breed, and comparative aspects. (1972) (46)
- PREGNANCY OUTCOME IN HODGKIN'S DISEASE (1979) (45)
- Genealogy of cancer in a family. (1979) (44)
- A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network (2017) (44)
- Replication of Association Between a Common Variant Near Melanocortin‐4 Receptor Gene and Obesity‐related Traits in Asian Sikhs (2010) (43)
- Testing the association of novel meta-analysis-derived diabetes risk genes with type II diabetes and related metabolic traits in Asian Indian Sikhs (2009) (43)
- Fetal alcohol syndrome (1976) (43)
- Familial Sotos syndrome (cerebral gigantism): craniofacial and psychological characteristics. (1985) (43)
- Caffeine as teratogen and mutagen. (1973) (42)
- Risk of cancer among children of cancer patients—a nationwide study in Finland (2010) (41)
- Postsurgical IQ and behavioral data on twenty patients with a history of childhood craniopharyngioma (1977) (39)
- Congenital and genetic disease in domestic animals. (1972) (39)
- Cancer chemotherapeutic agents as human teratogens. (2012) (38)
- A rule-based computer scheme for centromere identification and polarity assignment of metaphase chromosomes (2008) (38)
- Host factors in human lung tumors: an example of ecogenetics in oncology. (1976) (36)
- Pharmacogenetics, race, and ethnicity: social identities and individualized medical care. (2001) (35)
- Low adherence to national guidelines for thyroid screening in Down syndrome (2009) (34)
- Prevention in familial breast cancer: counseling and prophylactic mastectomy. (1982) (34)
- Discussion: Genetics of multiple primary tumors. A clinical etiologic approach illustrated by three patients (1977) (33)
- Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling (2020) (33)
- Effect of cohort differences in smoking prevalence on models of lung cancer susceptibility (1992) (33)
- Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family (2016) (33)
- Familial eosinophilia: clinical and laboratory results on a U.S. kindred. (1998) (32)
- Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of tay‐sachs disease gene carriers among Ashkenazic Jews (1992) (32)
- Host Factors in Human Carcinogenesis (1982) (32)
- Genetics of human cancer (1977) (32)
- International Commission for Protection Against Environmental Mutagens and Carcinogens. ICPEMC publication No. 18. Review of the genotoxicity and carcinogenicity of antischistosomal drugs; is there a case for a study of mutation epidemiology? Report of a task group on mutagenic antischistosomals. (1991) (31)
- Three-decade investigation of familial pheochromocytoma. An allele of von Hippel-Lindau disease? (1993) (31)
- Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: Microcephaly, developmental delay and delayed bone age (2011) (31)
- Lymphangiosarcoma in late-onset hereditary lymphedema: case report and nosological implications. (1995) (31)
- Cleft palate in domestic animals: epidemiologic features. (1980) (31)
- Hospitalizations among children of survivors of childhood and adolescent cancer: A population‐based cohort study (2010) (31)
- Immunologic abnormalities in melanoma-prone families. (1979) (30)
- The genetics of hypertrophic cardiomyopathy. (1986) (30)
- A low frequency variant within the GWAS locus of MTNR1B affects fasting glucose concentrations: genetic risk is modulated by obesity. (2012) (30)
- Harnessing genomics to identify environmental determinants of heritable disease. (2013) (29)
- Do bilineal pedigrees represent a problem for linkage analysis? basic principles and simulation results for single‐gene diseases with no heterogeneity (1992) (29)
- Successful treatment of Candida meningitis with amphotericin B and 5-fluorocytosine in combination. (1976) (29)
- Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision (2021) (29)
- The Niikawa-Kuroki (Kabuki make-up) syndrome in an American black. (1986) (27)
- Strategies for controlling cancer through genetics. (1987) (27)
- Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing (2019) (27)
- Multiple childhood osteosarcomas in an american indian family with erythroid macrocytosis and skeletal anomalies (1977) (27)
- Congenital heart disease in dogs: epidemiologic similarities to man. (1973) (27)
- Clinical ecogenetics: cancer in families. (1985) (26)
- Spectrum of malignancy and premalignancy in Carney syndrome. (1997) (25)
- Cancer Risk Assessment and Genetic Counseling in an Academic Medical Center: Consultands' Satisfaction, Knowledge, and Behavior in the First Year (1998) (25)
- Inheritance of pancreatic cancer in pancreatic cancer-prone families. (2000) (25)
- Familial respiratory tract cancer. Opportunities for research and prevention. (1982) (25)
- Automated Analysis of Fluorescent in situ Hybridization (FISH) Labeled Genetic Biomarkers in Assisting Cervical Cancer Diagnosis (2010) (25)
- Sister chromatid exchange and chromosome fragility in the nevoid basal cell carcinoma syndrome. (1989) (25)
- Aarskog's syndrome with Hirschsprung's disease, midgut malrotation, and dental anomalies. (1980) (24)
- Surgical management of spinal cord compression from plexiform neurofibromas in patients with neurofibromatosis 1. (1998) (24)
- Leiomyosarcoma of the breast: a pathologic and comparative genomic hybridization study of two cases. (2004) (23)
- On the Natural History of von Recklinghausen Neurofibromatosis (1986) (23)
- Nongonadal neoplasia in Turner's syndrome. (1970) (22)
- Benign familial hyperphosphatasemia. (1989) (22)
- CLINICAL ENDOCRINOLOGY & METABOLISM (1992) (21)
- Two common polymorphisms in the APO A‐IV coding gene: Their evolution and linkage disequilibrium (1992) (20)
- National Institutes of Health State-of-the-Science Conference Statement (2005) (20)
- Ring chromosome 9 [r(9)(p24q34)]: A report of two cases (2005) (20)
- Automated detection and analysis of fluorescent in situ hybridization spots depicted in digital microscopic images of Pap-smear specimens. (2009) (19)
- Characteristics of undiagnosed diseases network applicants: implications for referring providers (2018) (19)
- High‐resolution analysis of copy number variants in adults with simple‐to‐moderate congenital heart disease (2013) (19)
- An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (2020) (18)
- Another disorder with prenatal shortness of stature and premature aging. (1975) (18)
- Cancer in offspring of long‐term survivors of childhood and adolescent cancer (1988) (18)
- Sentinel and other mutational effects in offspring of cancer survivors. (1990) (18)
- Trisomy 8: a common finding in mouse embryonic stem (ES) cell lines (2013) (18)
- Automated identification of abnormal metaphase chromosome cells for the detection of chronic myeloid leukemia using microscopic images. (2010) (18)
- GONADOBLASTOMA IN DYSGENETIC GONADS WITH A Y CHROMOSOME (1975) (18)
- Further delineation of the Baller-Gerold syndrome. (1993) (17)
- Effects of cigarette-smoking on the fetus and child. (1976) (17)
- Smith-Lemli-Opitz syndrome: biochemical before clinical diagnosis; early dietary management. (1994) (16)
- Familial pheochromocytoma due to mutant von Hippel-Lindau disease gene. (1997) (15)
- CONGENITAL HEART DEFECTS AND PRENATAL SEX HORMONES (1974) (15)
- Fatal hypereosinophilia with chromosome 15q- in a patient with multiple primary and familial neoplasms. (1983) (15)
- De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia (2008) (15)
- Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1: A nationwide study (2020) (15)
- Genetics of SV40 T‐antigen expression: Studies of twins, heritable syndromes and cancer families (1978) (15)
- Strategies for controlling cancer through genetics: report of a workshop. (1987) (15)
- Falling giants and the rise of gene editing: ethics, private interests and the public good (2017) (15)
- Educational delay and attainment in persons with neurofibromatosis 1 in Denmark (2019) (14)
- National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health: August 24-26, 2009. (2009) (13)
- The floating harbor syndrome with cardiac septal defect. (1996) (13)
- Multisystem burden of neurofibromatosis 1 in Denmark: registry- and population-based rates of hospitalizations over the life span (2020) (13)
- Preconception exposure to mutagens: medical and other exposures to radiation and chemicals (2012) (13)
- Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science (2020) (12)
- Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases (2021) (12)
- Symposium on Linkage of von Recklinghausen Neurofibromatosis (NF1). Closing in on the gene for von Recklinghausen neurofibromatosis. (1987) (12)
- Double trisomy (2004) (12)
- Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science (2020) (12)
- The frequency of hereditary large bowel cancer. (1983) (12)
- Genetic Linkage Analysis of Neurofibromatosis a (1986) (11)
- Neurofibromatosis. A genetic epidemiologist's point of view. (1986) (11)
- Cancer ecogenetics: studying genetic and environment interactions through epidemiology. (1987) (11)
- GREEN-TOBACCO SICKNESS (1975) (11)
- Imagined Futures: Capturing the Benefits of Genome Sequencing for Society (2013) (11)
- Catalog of Human Cancer Genes: McKusick's Mendelian Inheritance in Man for Clinical and Research Oncologists (Onco-MIM) (1999) (11)
- Cytogenetic and molecular cytogenetic studies of a variant of t(21;22), ins(22;21)(q12;q21q22), with a deletion of the 3' EWSR1 gene in a patient with Ewing sarcoma. (2005) (11)
- Development and assessment of an integrated computer-aided detection scheme for digital microscopic images of metaphase chromosomes (2008) (10)
- FAMILIAL LEUKÆMIA AND SV40 TRANSFORMATION (1977) (10)
- Baseline and mutagen-induced sister-chromatid exchanges in cultures of human whole blood and purified fresh or frozen lymphocytes. (1987) (10)
- Genetics and cancer in man (1980) (10)
- Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1). (1989) (10)
- Niikawa-Kuroki (Kabuki make-up) syndrome. (1989) (10)
- Prospects for cancer control and prevention through genetics. (1989) (10)
- A Computer-Aided Method to Expedite the Evaluation of Prognosis for Childhood Acute Lymphoblastic Leukemia (2006) (10)
- Clinical Ecogenetics of Human Cancer (1985) (9)
- Quality assurance in medical and public health genetics services: A systematic review (2009) (9)
- Dental x-rays and low birth weight Radioactive waste management (2004) (9)
- Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. (2020) (9)
- Pulmonary-artery pressure in myocardial infarction. (1971) (8)
- Ring chromosome 4 in a patient with early onset type 2 diabetes, deafness, and developmental delay (2005) (8)
- Waardenburg-like features with cataracts, small head size, joint abnormalities, hypogonadism, and osteosarcoma. (1978) (8)
- Prenatal identification of a novel R937P L1CAM missense mutation. (2009) (8)
- Chromosomal changes detected by fluorescence in situ hybridization in patients with acute lymphoblastic leukemia. (2003) (8)
- Repair of sister-chromatid exchange-inducing lesions in mutagen-treated cultures of human whole blood and purified fresh or frozen lymphocytes. (1988) (8)
- Melkersson-Rosenthal syndrome in a 7-year-old girl. (1978) (8)
- A variant t(8;10;21) in a patient with pathological features mimicking atypical chronic myeloid leukemia. (2005) (8)
- Trisomy 1q in a patient with severe aplastic anemia. (2006) (8)
- Neurofibromatosis and leukemia. (1978) (8)
- In vitro radiosensitivity of fibroblasts from thyroid and skin cancer patients treated with X-rays for tinea capitis. (1994) (7)
- Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain (2020) (7)
- Reproductive Outcomes among Men Treated for Cancer (1994) (7)
- Melkersson-Rosenthal syndrome, Hodgkin disease, and corneal keratopathy. (1973) (7)
- Down syndrome with pure partial trisomy 21q22 due to a paternal insertion (4;21) uncovered by uncultured amniotic fluid interphase FISH (2005) (7)
- Neurofibromatosis: no chromosomal defect by prophase banding technique. (1984) (7)
- Familial Cancer Management (1996) (7)
- Identification of t(15;17) and a segmental duplication of chromosome 11q23 in a patient with acute myeloblastic leukemia M2. (2002) (6)
- Neuroblastoma in Duchenne muscular dystrophy. (1986) (6)
- Developing a genetic services assessment tool to inform quality improvement efforts in state genetic service delivery (2018) (6)
- Deletion of 14q24.1 approximately q24.3 in a patient with acute lymphoblastic leukemia: a hidden chromosomal anomaly detected by array-based comparative genomic hybridization. (2008) (6)
- Chromosomal Abnormalities in Offspring of Young Cancer Survivors: A Population-Based Cohort Study in Denmark. (2018) (6)
- Birth defects with Ewing's sarcoma. (1983) (6)
- Sarcomas in a child and her father: an etiologic consultation. (1979) (5)
- Investments in cancer genomics: who benefits and who decides. (2006) (5)
- Breast cancer risk analysis and counseling. (1996) (5)
- Familial breast cancer in black Americans (1987) (5)
- Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (2021) (5)
- Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. (2019) (5)
- Why Dickinson Didn't Title (2009) (4)
- Clinical genetics of human cancer. (1982) (4)
- Duplication 15q in a patient with t(8;21) acute myeloblastic leukemia (M2). (2002) (4)
- Reported environmental exposures are inversely associated with obtaining a genetic diagnosis in the Undiagnosed Diseases Network (2019) (4)
- Psychiatric disorders in individuals with neurofibromatosis 1 in Denmark: A nationwide register‐based cohort study (2021) (4)
- The concurrence of saethre‐chotzen syndrome and malignancy in a family with in vitro immune dysfunction (1984) (4)
- Forming and ending marital or cohabiting relationships in a Danish population-based cohort of individuals with neurofibromatosis 1 (2020) (4)
- One is the loneliest number: genotypic matchmaking using the electronic health record (2021) (4)
- Genetic linkage studies with neurofibromatosis: the question of heterogeneity. (1987) (4)
- Tonic‐Clonic Seizures in a Fetus With Pena‐Shokeir Syndrome (2009) (4)
- Duplication 15q as the sole anomaly in an acute promyelocytic leukemia patient without t(15;17). (2002) (4)
- Double trisomy (Am J Med Genet 124A: 96–98) (2005) (4)
- Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts (2019) (3)
- Human genome meeting 2016 (2016) (3)
- Ranking boolean search output (1968) (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)
- 39 – MUTATION EPIDEMIOLOGY AND ITS PROSPECTS FOR DETECTING HUMAN GERMINAL MUTAGENS (1984) (3)
- A steroid metabolizing gene variant in a polyfactorial model improves risk prediction in a high incidence breast cancer population (2014) (3)
- Normal findings 52 years after in utero radiation exposure (1991) (3)
- An example of sample size determination for family studies. (1981) (3)
- Research standardization tools: pregnancy measures in the PhenX Toolkit (2017) (3)
- Abstract 2756: Whole-exome sequencing reveals a novel germline variant in CEBPA-associated familial acute myeloid leukemia: 45-year follow-up of a large family (2015) (3)
- Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency: the case for screening all newborns. (2002) (3)
- A novel subtelomeric translocation t(5;9) and a deletion of the RB1 gene in a patient with acute myeloid leukemia (AML-M0). (2008) (3)
- Long-time observations of the Blalock-Taussig operation. V. Neoplasms in Tetralogy of Fallot. (1973) (3)
- Automated segmentation and analysis of fluorescent in situ hybridization (FISH) signals in interphase nuclei of pap-smear specimens (2009) (3)
- School performance of children with neurofibromatosis 1: a nationwide population-based study (2022) (2)
- Reproductive Problems and Birth Defects in Survivors of Wilms’ Tumor and Their Relatives (1989) (2)
- Pregnancy outcomes in women with neurofibromatosis 1: a Danish population-based cohort study (2021) (2)
- Expanding metabolic screening of newborns: can the health care industry do better than public health? (2003) (2)
- Statement on bioinformatics and capturing the benefits of genome sequencing for society (2019) (2)
- Recessive lethal form of OI caused by null mutations in CRTAP (2006) (2)
- [Cancer in siblings of children with cancer]. (2002) (2)
- Problems in diagnosing neurofibromatosis. (1981) (2)
- CANCER IN LONG-TIME SURVIVORS OF CHILDHOOD CANCER AND THEIR OFFSPRING (1984) (2)
- New syndrome of premature aging, craniofacial defects, and nevi. (1980) (2)
- The View of CRISPR Patents Through the Lens of Solidarity and the Public Good (2018) (2)
- Cancer genetics: inheritance of susceptibility to cancer in man. (1984) (2)
- Neurofibromatosis (von Recklinghausen disease) : genetics, cell biology, and biochemistry (1981) (2)
- Possible genetic effects of cancer therapy, seen in surviving cancer patients' offspring. (1986) (2)
- Cryptic and complex chromosomal rearrangements and the deletion of TP53 gene in a patient with leukemic mantle cell lymphoma. (2006) (2)
- Occupational Ecogenetics: Gene-Environment Interactions in the Workplace (1986) (2)
- Association of in vitro radiosensitivity and cancer in a family with acute myelogenous leukemia. (1981) (2)
- Population-based clinical epidemiology of familial cancer: lessons for oncologists. (2009) (1)
- Germline Mutations in the n Hippel-Lindau Disease (VrwL) Gene in Families From America, Europe, and Japan (1996) (1)
- Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (2021) (1)
- A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases (2021) (1)
- Short communication Cryptic and complex chromosomal rearrangements and the deletion of TP53 gene in a patient with leukemic mantle cell lymphoma (2006) (1)
- Cohort profile: life with neurofibromatosis 1 – the Danish NF1 cohort (2022) (1)
- Rapid prenatal diagnosis of trisomies 13, 18, 21 and sex chromosome anomalies by fluorescence in situ hybridization: a year's experience. (2002) (1)
- Psychosocial consequences of childhood cancer survival (1984) (1)
- Familial aspects of pancreatic cancer (1985) (1)
- Meeting Report. Assessing Human Germ-Cell Mutagenesis in the Post-Genome Era: A Celebration of the Legacy of William Lawson (Bill) Russell (2006) (1)
- Perform a gene test on every patient: the medical family history revisited. (2006) (1)
- Neurofibromatosis: history, nomenclature, and natural history. (1988) (1)
- Genetic factors in pulmonary neoplasms. (1976) (1)
- Chapter 2:Reproductive Outcomes among Men Treated for Cancer (2007) (1)
- Genetic analyses on a set of parasitic conjoined twins. (1992) (1)
- Research vistas in the multiple endocrine neoplasia syndromes. (1984) (1)
- Development of an integrated computerized scheme for metaphase chromosome image analysis: a robustness experiment (2008) (1)
- Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (2021) (1)
- The Human Genome and Epigenome (2010) (1)
- Trisomy 8: a common finding in mouse embryonic stem (ES) cell lines (2013) (1)
- Interstitial lung disease in an adult with Fanconi anemia: clues to the pathogenesis. (1997) (1)
- Clinical Report Ring Chromosome 4 in a Patient With Early Onset Type 2 Diabetes, Deafness, and Developmental Delay (2005) (0)
- Reviewer Acknowledgment (2013) (0)
- A study of The years as a poetic novel (1958) (0)
- Neurofibromatosis (1986) (0)
- Functional common genetic polymorphisms interact to predict breast cancer risk (2004) (0)
- Educational delay and attainment in persons with neurofibromatosis 1 in Denmark (2019) (0)
- VarSight: prioritizing clinically reported variants with binary classification algorithms (2019) (0)
- Announcements (1996) (0)
- Response to Hamosh et al. (2021) (0)
- ICPEMC working paper 5/6. Perspectives in mutation epidemiology. VI: A 1983 view of sentinel phenotypes (1985) (0)
- Impact of Common Type 2 Diabetes Risk Polymorphisms in Asian Indian Sikhs : Gene-Gene Interaction May Improve Risk Prediction (2007) (0)
- Standard Outline for Each Nation (2.1–2.19) (1989) (0)
- Schistosomiasis drugs: an ICPEMC study. (1990) (0)
- Double Trisomy [1] (2004) (0)
- 224 ANALYSIS OF TOTAL N-GLYCANS IN SERUM GLYCOPROTEINS BY MASS SPECTROMETRY. (2006) (0)
- Common variants in estrogen metabolism and DNA repair genes associated risk of breast cancer in young women (2005) (0)
- Prenatal diagnosis: update addresses technological advances. (1997) (0)
- Genetic Epidemiology of Offspring of Cancer Survivors: A Window on Human Germ Mutagenesis (2009) (0)
- The Human Genome Organisation (HUGO) and the 2020 COVID-19 pandemic (2021) (0)
- Falling giants and the rise of gene editing: ethics, private interests and the public good (2017) (0)
- Correction: Educational delay and attainment in persons with neurofibromatosis 1 in Denmark (2019) (0)
- ' s response to reviews Title : Variants in KCNQ 1 increase type II diabetes susceptibility in South Asians (2010) (0)
- A student-operated series of medical films. (1968) (0)
- Multisystem burden of neurofibromatosis 1 in Denmark: registry- and population-based rates of hospitalizations over the life span (2020) (0)
- Family history in a laboratory disease. (1969) (0)
- Availability of birth defects and genetic disease information in public libraries -- implications for the Human Genome Project (1994) (0)
- Prospects of Cancer Control Through Genetics (1996) (0)
- Reviewer Acknowledgment (2005) (0)
- Special Scientific Advisors (2013) (0)
- Book Review Familial and Hereditary Tumors (Recent Results in Cancer Research. [136].) By M. Ponz de Leon. 347 pp., illustrated. New York, Springer-Verlag, 1995. DM198. 0-387-57663-9 (1995) (0)
- Genes Protecting Against Cancers and Tumor Suppressor Genes (2000) (0)
- Genetic Epidemiology and genetic Epidemiology (1992) (0)
- Announcements (1992) (0)
- Human genome meeting 2016 (2016) (0)
- International plan of education, awareness, celebration, and commemoration around the bicentennial of the birth of Gregor Mendel, July 22, 1822 (2021) (0)
- Familial Non-Melanotic Skin Cancer (1985) (0)
- Predicting breast cancer risk from the interaction of multiple genetic polymorphisms. (2004) (0)
- Surgical Management of Spinal Cord Compression from Plexiform Neurofibromas (1998) (0)
- A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative (2018) (0)
- What is a gene? (1997) (0)
- Genetic effects in offspring of cancer patients (1986) (0)
- Preconception exposure to mutagens: medical and other exposures to radiation and chemicals (2012) (0)
- Request for Proposals to Host the Tenth International Congress of Human Genetics in 2001 (1996) (0)
- Short communication Trisomy 1q in a patient with severe aplastic anemia (2006) (0)
- Breast cancer risk: evaluating the risk and role of genetic testing. (2002) (0)
- International Genetic Workshop on Crouzon Disease and Other Craniofacial Disorders, Pittsburgh, Pa, March 10-11, 1995 (1996) (0)
- Review for "Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings" (2021) (0)
- Monitoring, Birth Defects and Environment. The Problem of Surveillance.Ernest B. Hook , Dwight T. Janerich , Ian H. Porter (1972) (0)
- Cancer Genetics: Inheritance of Susceptibility to Cancer in Man . W. F. Bodmer, Ed. Oxford University Press, New York, 1983. vi, 192 pp., illus. $26.95. Originally published in Cancer Surveys , vol. I, no. 1. (1984) (0)
- The Nuclear Age by Tim O'Brien (1986) (0)
- Forming and ending marital or cohabiting relationships in a Danish population-based cohort of individuals with neurofibromatosis 1 (2020) (0)
- Duplication of chromosome 15Q15 in a patient with ANLL M2 (2000) (0)
- The joy and duty of a marginal teratologist (2020) (0)
- Fetal Alcohol Spectrum Disorder (2009) (0)
- Corrigendum to eP296-The yield of thorough record review in the Undiagnosed Diseases Network, Volume 132, Supplement 1, April 2021, Page S187, https://doi.org/10.1016/S1096-7192(21)00378-4. (2021) (0)
- A Noble Train of Artilery: Henry Knox and the Journey to Dorchester Heights (2013) (0)
- Predicting breast cancer risk from the interaction of multiple genetic polymorphisms (2004) (0)
- Low Unconguted Estriol Levels in the Maternal Quadruple-Marker Screen in a Fetus with Cornelia de Lange Syndrome and a Partial Deletion of the NIPBL Gene (2013) (0)
- Celebrating the structure of DNA: 50 years and beyond. (2003) (0)
- Familial Cancer and Prevention Molecular Epidemiology, A New Strategy Toward Cancer Control (2000) (0)
- Statement on bioinformatics and capturing the benefits of genome sequencing for society (2019) (0)
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What Schools Are Affiliated With John Joseph Mulvihill?
John Joseph Mulvihill is affiliated with the following schools:
