David H. Ledbetter
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Researcher, ORCID id # 0000-0001-8934-4210
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David H. Ledbettercomputer-science Degrees
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Computer Science
David H. Ledbetter's Degrees
- PhD Computer Science Stanford University
- Masters Computer Science Stanford University
- Bachelors Computer Science University of California, Berkeley
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(Suggest an Edit or Addition)David H. Ledbetter'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
- Strong Association of De Novo Copy Number Mutations with Autism (2007) (2746)
- Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. (2010) (2348)
- Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas. (1989) (2166)
- Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs (2013) (2011)
- Multicolor Spectral Karyotyping of Human Chromosomes (1996) (1783)
- Mapping autism risk loci using genetic linkage and chromosomal rearrangements (2007) (1382)
- Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism (2011) (1218)
- Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci (2015) (1106)
- Chromosomal microarray versus karyotyping for prenatal diagnosis. (2012) (989)
- ClinGen--the Clinical Genome Resource. (2015) (856)
- Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. (2008) (807)
- The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data (2013) (789)
- Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats (1993) (716)
- Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways (2015) (676)
- Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. (1981) (587)
- Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality (1998) (578)
- Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources. (1989) (559)
- Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. (1993) (546)
- Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease (2017) (537)
- Uniparental disomy as a mechanism for human genetic disease. (1988) (466)
- Implementing genomic medicine in the clinic: the future is here (2013) (463)
- Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study (2016) (445)
- Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region (1994) (431)
- The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. (1989) (423)
- Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. (1993) (395)
- An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities (2011) (395)
- Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities (2005) (386)
- Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. (1995) (381)
- Localization of the X inactivation centre on the human X chromosome in Xq13 (1991) (378)
- Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease. (2016) (372)
- Common genetic variants, acting additively, are a major source of risk for autism (2012) (372)
- Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. (2001) (369)
- LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. (1998) (345)
- Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel. (2018) (321)
- Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. (1997) (313)
- Cytogenetic results from the U.S. collaborative study on CVS (1992) (311)
- Genetic identification of familial hypercholesterolemia within a single U.S. health care system (2016) (307)
- A complete set of human telomeric probes and their clinical application (1996) (304)
- Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia (2017) (301)
- Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. (2010) (301)
- An optimized set of human telomere clones for studying telomere integrity and architecture. (2000) (299)
- The Geisinger MyCode Community Health Initiative: an electronic health record-linked biobank for Precision Medicine research (2015) (286)
- Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders (2019) (280)
- Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). (1999) (275)
- 14-3-3ε is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller–Dieker syndrome (2003) (272)
- Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A (1992) (270)
- Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence (2013) (267)
- Feasibility of blood testing combined with PET-CT to screen for cancer and guide intervention (2020) (257)
- A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders (2012) (250)
- Exome sequencing and characterization of 49,960 individuals in the UK Biobank (2020) (244)
- Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases. (1982) (238)
- X-linked malformations of neuronal migration (1996) (232)
- Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. (2003) (231)
- Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell (2012) (228)
- Clinical and molecular diagnosis of Miller-Dieker syndrome. (1991) (225)
- Precise localization of NF1 to 17q11.2 by balanced translocation. (1989) (222)
- Differences in the gyral pattern distinguish chromosome 17–linked and X-linked lissencephaly (1999) (216)
- Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder (2015) (206)
- Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoire. (1994) (206)
- Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages. (2004) (203)
- A randomized comparison of transcervical and transabdominal chorionic-villus sampling. The U.S. National Institute of Child Health and Human Development Chorionic-Villus Sampling and Amniocentesis Study Group. (1992) (200)
- A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. (1997) (190)
- Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. (1995) (184)
- Methylation-specific PCR simplifies imprinting analysis. (1997) (182)
- Fluorescence in situ hybridization with Alu and L1 polymerase chain reaction probes for rapid characterization of human chromosomes in hybrid cell lines. (1990) (179)
- Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. (1991) (178)
- Genetic analysis of indefinite division in human cells: evidence for a cell senescence-related gene(s) on human chromosome 4. (1991) (178)
- Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray (2008) (177)
- Cytogenetic findings in a prospective series of patients with DiGeorge anomaly. (1988) (175)
- Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. (2016) (174)
- Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. (1993) (171)
- Miller-Dieker syndrome: lissencephaly and monosomy 17p. (1983) (167)
- The spectrum of mutations in UBE3A causing Angelman syndrome. (1999) (160)
- Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability (2010) (158)
- Rapid isolation of DNA probes within specific chromosome regions by interspersed repetitive sequence polymerase chain reaction. (1990) (157)
- Five polymorphic microsatellite VNTRs on the human X chromosome. (1990) (157)
- Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci. (1990) (153)
- Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia (2001) (150)
- Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts (2012) (147)
- Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants (2018) (147)
- Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. (1992) (146)
- Human hepatic lipase. Cloned cDNA sequence, restriction fragment length polymorphisms, chromosomal localization, and evolutionary relationships with lipoprotein lipase and pancreatic lipase. (1988) (144)
- Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation. (1997) (141)
- Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. (1999) (140)
- Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non‐canonical E box and acts as a transcriptional repressor (1997) (139)
- Genetic insights into the causes and classification of the cerebral palsies (2012) (138)
- Deletion and amplification of the HGPRT locus in Chinese hamster cells (1983) (138)
- Causal heterogeneity in isolated lissencephaly (1992) (137)
- A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity? (2015) (134)
- The aniridia-Wilms tumor association: The critical role of chromosome band 11p13☆ (1980) (130)
- Clinical phenotype of the recurrent 1q21.1 copy-number variant (2015) (129)
- A YAC contig of the human CC chemokine genes clustered on chromosome 17q11.2. (1996) (129)
- Methylation-specif ic PCR simplifies imprinting analysis (1997) (128)
- Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1) (2002) (127)
- Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E). (1994) (127)
- Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank (2019) (126)
- Fragile X syndrome: a unique mutation in man. (1986) (125)
- Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination. (1998) (120)
- The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. (1997) (120)
- The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions. (2015) (116)
- Alteration and abnormal expression of the c-myc oncogene in human multiple myeloma. (1988) (116)
- Recommendations for the integration of genomics into clinical practice (2016) (115)
- Report of the committee on cytogenetic markers. (1989) (115)
- A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort (2017) (112)
- Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. (1992) (111)
- Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1. (1987) (111)
- The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. (2000) (107)
- Nondisjunction of chromosome 15: origin and recombination. (1993) (107)
- Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. (1991) (106)
- Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes (1996) (106)
- American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy (2001) (106)
- The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression. (2001) (104)
- Cytogenetic results of chorionic villus sampling: high success rate and diagnostic accuracy in the United States collaborative study. (1990) (104)
- Prader-Willi syndrome. (1989) (102)
- Diagnostic interpretation of array data using public databases and internet sources (2012) (102)
- Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q13–14 (1992) (101)
- Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. (2002) (99)
- Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. (1997) (99)
- Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11–13) by YAC cloning and FISH analysis (1992) (99)
- Organization of the HPRT gene and related sequences in the human genome (1984) (99)
- A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. (1993) (97)
- A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders. (2016) (94)
- Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. (1996) (93)
- Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene. (1990) (93)
- Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes (2018) (91)
- Two 22q telomere deletions serendipitously detected by FISH. (1998) (90)
- Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. (1988) (89)
- Chromosomal localization of the genes for the vitronectin and fibronectin receptors alpha subunits and for platelet glycoproteins IIb and IIIa. (1988) (87)
- Minireview: cryptic translocations and telomere integrity. (1992) (84)
- Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. (1987) (83)
- “Molecular rulers” for calibrating phenotypic effects of telomere imbalance (2002) (80)
- Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14 (2001) (80)
- Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23. (2003) (79)
- Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly (2018) (77)
- Chromosome 20 Ring: A Chromosomal Disorder Associated with a Particular Electroclinical Pattern (1998) (77)
- Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome. (1997) (76)
- Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint (1996) (76)
- Adjusting Head Circumference for Covariates in Autism: Clinical Correlates of a Highly Heritable Continuous Trait (2013) (76)
- Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. (1990) (75)
- Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues. (2008) (75)
- Insufficient Evidence for “Autism-Specific” Genes (2020) (75)
- Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6. (1988) (75)
- Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q). (1988) (75)
- Further evidence for linkage of Gilles de la Tourette syndrome (GTS) susceptibility loci on chromosomes 2p11, 8q22 and 11q23-24 in South African Afrikaners. (2001) (75)
- Strain differences among chickens in tonic immobility: evidence for an emotionality component. (1976) (75)
- Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17. (1989) (74)
- The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations. (1990) (74)
- A framework for the investigation of rare genetic disorders in neuropsychiatry (2019) (73)
- Dinucleotide repeat polymorphism at the GABAA receptor beta 3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15. (1992) (73)
- Failure to demonstrate self‐recognition in gorillas (1982) (73)
- Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region. (1995) (73)
- The introduction of arrays in prenatal diagnosis: A special challenge (2012) (72)
- Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications. (2002) (69)
- Cloning and characterization of the T(15;17) translocation breakpoint region in acute promyelocytic leukemia (1990) (68)
- Patient-Centered Precision Health In A Learning Health Care System: Geisinger's Genomic Medicine Experience. (2018) (68)
- Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders (2019) (68)
- Fine structure DNA mapping studies of the chromosomal region harboring the genetic defect in neurofibromatosis type I. (1989) (68)
- PRENATAL DIAGNOSIS OF UNIPARENTAL DISOMY 15 FOLLOWING TRISOMY 15 MOSAICISM (1996) (68)
- Two NF1 translocations map within a 600-kilobase segment of 17q11.2. (1989) (68)
- Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb. (1998) (67)
- Segmental duplications mediate novel, clinically relevant chromosome rearrangements. (2009) (66)
- Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15 (2000) (66)
- CYTOGENETIC AND AGE‐DEPENDENT RISK FACTORS ASSOCIATED WITH UNIPARENTAL DISOMY 15 (1996) (66)
- Chorionic mosaicism: Association with fetal loss but not with adverse perinatal outcome (1992) (66)
- Characterization of a translocation within the von Recklinghausen neurofibromatosis region of chromosome 17. (1989) (64)
- Localization of the human thyroxine-binding globulin gene to the long arm of the X chromosome (Xq21-22). (1987) (61)
- Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. (1984) (61)
- Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index (2014) (60)
- Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2 (2014) (60)
- Recombination and amplification of pyrimidine-rich sequences may be responsible for initiation and progression of the Xq27 fragile site: an hypothesis. (1986) (60)
- Structural analysis of a hepatitis B virus genome integrated into chromosome 17p of a human hepatocellular carcinoma (1988) (59)
- Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly. (1988) (59)
- Implications of fragile X expression in normal males for the nature of the mutation (1986) (57)
- Toward clinical genomics in everyday medicine: perspectives and recommendations (2016) (57)
- A rodent-human hybrid containing Xq24-qter translocated to a hamster chromosome expresses the Xq27 folate-sensitive fragile site. (1986) (56)
- Clinical outcomes of a genomic screening program for actionable genetic conditions (2020) (55)
- A de novo X;3 translocation in Rett syndrome. (1990) (55)
- Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence (1998) (54)
- LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ (2001) (54)
- Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated "island" in the Miller-Dieker chromosome region. (1989) (54)
- Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment. (1988) (53)
- Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis. (1996) (51)
- Profiling and leveraging relatedness in a precision medicine cohort of 92,455 exomes (2017) (51)
- Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation. (1993) (50)
- The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors (2014) (49)
- Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants (2017) (48)
- Cryptic telomere imbalance: A 15‐year update (2007) (48)
- GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge (2015) (48)
- Characterizing genetic variants for clinical action (2014) (48)
- Assignment of the human prohibitin gene (PHB) to chromosome 17 and identification of a DNA polymorphism. (1991) (48)
- Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q (2002) (48)
- New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. (1991) (47)
- Methylation analysis of the fragile X syndrome by PCR. (1997) (47)
- LIS1: from cortical malformation to essential protein of cellular dynamics (2001) (47)
- Copy number variants, aneuploidies, and human disease. (2015) (47)
- New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13 (2004) (47)
- Genetic mapping of four dinucleotide repeat loci, DXS453, DXS458, DXS454, and DXS424, on the X chromosome using multiplex polymerase chain reaction. (1992) (47)
- Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome. (1982) (47)
- Cytogenetic comparison and phylogeny of three species of Hylobatidae. (1983) (47)
- The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect. (1987) (46)
- Neuronally-expressed necdin gene: an imprinted candidate gene in Prader-Willi syndrome (1997) (46)
- Cytogenetic technology--genotype and phenotype. (2008) (45)
- "PCR-karyotype" of human chromosomes in somatic cell hybrids. (1990) (44)
- A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination. (1995) (43)
- Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene. (1993) (43)
- The evolutionary origin of human subtelomeric homologies--or where the ends begin. (2002) (43)
- Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy. (2021) (42)
- Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication (2016) (42)
- Thymidylate synthase-deficient Chinese hamster cells: a selection system for human chromosome 18 and experimental system for the study of thymidylate synthase regulation and fragile X expression. (1985) (42)
- Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: sublocalization to human 11q13 between PGA and PYGM. (1992) (41)
- Shift happens: family background influences clinical variability in genetic neurodevelopmental disorders (2015) (41)
- An unusual expression of a squamous cell marker, small proline-rich protein gene, in tracheobronchial epithelium: differential regulation and gene mapping. (1992) (41)
- Neonatal diagnosis of Prader-Willi syndrome and its implications. (1987) (41)
- The human apolipoprotein B-100 gene: a highly polymorphic gene that maps to the short arm of chromosome 2. (1985) (41)
- Electronic Health Record Phenotype in Subjects with Genetic Variants Associated with Arrhythmogenic Right Ventricular Cardiomyopathy: A Study in 30,716 Subjects with Exome Sequencing (2017) (41)
- Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome (2000) (41)
- Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus. (1999) (40)
- Hypoparathyroidism and T cell immune defect in a patient with 10p deletion syndrome. (1986) (40)
- Chromosomal microarray versus karyotyping for prenatal diagnosis (2013) (39)
- Duplication of proximal 15q as a cause of Prader-Willi syndrome. (1987) (39)
- Localization of myeloperoxidase to the long arm of human chromosome 17: relationship to the 15; 17 translocation of acute promyelocytic leukemia. (1987) (39)
- Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements. (2011) (39)
- The CCAAT/enhancer binding protein (C/EBPα) gene (CEBPA) maps to human chromosome 19q13.1 and the related nuclear factor NF-IL6 (C/EBPβ) gene (CEBPB) maps to human chromosome 20q13.1 (1992) (38)
- Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome. (1993) (38)
- Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26). (1991) (38)
- Intrauterine Growth Retardation Associated with Maternal Uniparental Disomy for Chromosome 6 Unmasked by Congenital Adrenal Hyperplasia (1999) (38)
- Human interstitial retinol-binding protein (IRBP): cloning, partial sequence, and chromosomal localization (1987) (38)
- Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15. (1992) (38)
- In vitro translation of hypoxanthine/guanine phosphoribosyltransferase mRNA: characterization of a mouse neuroblastoma cell line that has elevated levels of hypoxanthine/guanine phosphoribosyltransferase protein. (1981) (38)
- Ring chromosome 15: phenotype, Ag-NOR analysis, secondary aneuploidy, and associated chromosome instability. (1980) (38)
- Molecular cloning and characterization of a cDNA for human granulocyte colony-stimulating factor (G-CSF) from a glioblastoma multiforme cell line and localization of the G-CSF gene to chromosome band 17q21. (1987) (38)
- AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome) (2013) (37)
- Chaos in the embryo (2009) (37)
- Genomic structure, chromosomal mapping, and expression pattern of human DCAMKL1 (KIAA0369), a homologue of DCX (XLIS). (1999) (36)
- Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population (2020) (36)
- Assignment of the human small inducible cytokine A2 gene, SCYA2 (encoding JE or MCP-1), to 17q11.2-12: evolutionary relatedness of cytokines clustered at the same locus. (1991) (36)
- Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17. (1986) (35)
- Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32 (2003) (35)
- 17q12 Recurrent Deletion Syndrome (2016) (35)
- Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3‐pter (2005) (35)
- Second Annual Prader‐Willi Syndrome Scientific Conference (1987) (35)
- Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities. (2000) (34)
- Familial Prader-Willi syndrome with apparently normal chromosomes. (1987) (34)
- Familial DiGeorge syndrome and associated partial monosomy of chromosome 22 (2004) (34)
- A variety of genetic mechanisms are associated with the Prader-Willi syndrome. (1994) (34)
- Cystic hygroma and hydrops fetalis in a fetus with trisomy 13 (1983) (33)
- The 'colorizing' of cytogenetics: is it ready for prime time? (1992) (33)
- Mutation screening and transmission disequilibrium study of ATP10C in autism. (2002) (33)
- Classical lissencephaly syndromes: does the face reflect the brain? (1998) (32)
- Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing (2005) (32)
- The human corticotropin-releasing factor receptor (CRHR) gene maps to chromosome 17q12-q22. (1995) (31)
- Inactivating Variants in ANGPTL 4 and Risk of Coronary Artery Disease (2016) (31)
- Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region. (1997) (30)
- Transformation of DNA repair-deficient human diploid fibroblasts with a simian virus 40 plasmid. (1987) (30)
- Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi syndrome critical region. (1996) (30)
- Autism and cytogenetic abnormalities: Solving autism one chromosome at a time (2007) (30)
- A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13. (1996) (30)
- Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays Consortium Meeting (2013) (29)
- A simple VNTR-PCR method for detecting maternal cell contamination in prenatal diagnosis. (1998) (29)
- Molecular screening for proximal 15q abnormalities in a mentally retarded population. (1998) (29)
- Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients (2020) (28)
- Detection of a subtle rearrangement of chromosome 22 using molecular techniques. (1995) (28)
- Common Long Human Inversion Polymorphism on Chromosome $8p$ (2003) (27)
- Deletions of proximal 15q without Prader-Willi syndrome. (1987) (27)
- Detailed analysis of loss of heterozygosity on chromosome band 17p13 in breast carcinoma on the basis of a high‐resolution physical map with 29 markers (1994) (27)
- Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13 (1991) (26)
- Tumor suppression by chromosome 11 is not due to cellular senescence. (1991) (26)
- Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis. (2000) (26)
- Highly polymorphic locus D15S24 (CMW-1) maps to 15pter-q13. [HGM9 provisional no. D15S24]. (1988) (25)
- The human ROX gene: genomic structure and mutation analysis in human breast tumors. (1998) (25)
- Comparative genomic hybridization: a comparison with molecular and cytogenetic analysis. (1998) (25)
- Assignment of human tryptophan hydroxylase locus to chromosome 11: Gene duplication and translocation in evolution of aromatic amino acid hydroxylases (1987) (25)
- Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene (2001) (25)
- Second international workshop on human chromosome 17. (1991) (25)
- Spastic paraplegia with iron deposits in the basal ganglia: a new X-linked mental retardation syndrome. (1992) (25)
- Summary of the 1993 ASHG ancillary meeting "recent research on chromosome 4p syndromes and genes". (1995) (24)
- Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory (2008) (24)
- 14-3-3 epsilon has no homology to LIS1 and lies telomeric to it on chromosome 17p13.3 outside the Miller-Dieker syndrome chromosome region. (1996) (24)
- Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele. (2000) (24)
- Report of the Banbury Summit Meeting on the evolving role of the medical geneticist, February 12–14, 2006 (2008) (24)
- Fine mapping of the cystinosis gene using an integrated genetic and physical map of a region within human chromosome band 17p13. (1996) (24)
- Defining the Effect of the 16 p 11 . 2 Duplication on Cognition , Behavior , andMedical Comorbidities (2015) (23)
- The anonymous polymorphic DNA clone D1S1, previously mapped to human chromosome 1p36 by in situ hybridization, is from chromosome 3 and is duplicated on chromosome 1. (1986) (23)
- Duplication 11p11.3 14.1 to meiotic crossing-over (1980) (23)
- Molecular cloning and characterization of the human NUDC gene (1999) (23)
- Robertsonian (15q;15q) translocation in a child with Angelman syndrome: evidence of uniparental disomy. (1996) (23)
- Molecular cloning and chromosomal localization of human 4-beta-galactosyltransferase. (1986) (22)
- First‐trimester biochemical and molecular diagnoses using chorionic villi: High accuracy in the U.S. collaborative study (1992) (22)
- Assignment of trophoblast/endometrial epithelium cell adhesion molecule trophinin gene TRO to human chromosome bands Xp11.22-->p11.21 by in situ hybridization. (1997) (22)
- Human liver fatty acid binding protein gene is located on chromosome 2 (1986) (21)
- New insights into idiopathic infantile arterial calcinosis. Three patient reports. (1990) (21)
- ClinGen's GenomeConnect registry enables patient‐centered data sharing (2018) (20)
- Identification of the functional profilin gene, its localization to chromosome subband 17p13.3, and demonstration of its deletion in some patients with Miller-Dieker syndrome. (1990) (20)
- Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis (2014) (20)
- Prenatal detection of 46,XY,rec(5),dup q, inv(5)(p13q33) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysis. (1988) (19)
- Somatic cell hybrid studies of fragile (X) expression in a carrier female and transmitting male. (1986) (19)
- Human chromosome 17 NotI linking clones and their use in long-range restriction mapping of the Miller-Dieker chromosome region (MDCR) in 17p13.3. (1990) (19)
- New somatic cell hybrids for physical mapping in distal Xq and the fragile X region. (1991) (19)
- The dynamic nature and evolutionary history of subtelomeric and pericentromeric regions (2004) (19)
- Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction (1990) (19)
- Implementation of genomic medicine in a health care delivery system: A value proposition? (2014) (18)
- Diverse fates of paralogs following segmental duplication of telomeric genes. (2004) (18)
- Human Preferences for Symmetry: Subjective Experience, Cognitive Conflict and Cortical Brain Activity (2012) (18)
- NOR-bearing Y chromosome in a primate, Hylobates (Symphalangus) syndactylus. (1981) (18)
- Localization of histidase to human chromosome region 12q22----q24.1 and mouse chromosome region 10C2----D1. (1991) (18)
- Localization of mouse phenylalanine hydroxylase locus on chromosome 10. (1988) (18)
- Characterization of physical gap sizes at human telomeres. (1999) (18)
- Caffeine enhances fragile (X) expression in somatic cell hybrids. (1986) (18)
- Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology. (2022) (17)
- A common fragile site at Xq27: theoretical and practical implications. (1988) (17)
- MRX8: an X-linked mental retardation condition with linkage to Xq21. (1992) (17)
- LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2. (1995) (17)
- Mitotic and meiotic instability of a telomere association involving the Y chromosome (2004) (16)
- Integrating Clinical Laboratory Measures and ICD-9 Code Diagnoses in Phenome-Wide Association Studies (2016) (16)
- PRENATAL DIAGNOSIS OF AN INFANT WITH MOSAIC TRISOMY 16 OF PATERNAL ORIGIN (1996) (16)
- Dinucleotide repeat polymorphism mapping to the critical region for lissencephaly (17p13.3). (1993) (15)
- New polymorphisms at the DXS98 locus and confirmation of its location proximal to FRAXA by in situ hybridization. (1989) (15)
- Complete cDNA sequence and chromosomal localization of mouse α1-antitrypsin (1990) (15)
- Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1]. (1991) (14)
- Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2). (1991) (14)
- Molecular characterization of a patient with del(1)(q23–q25) (1991) (14)
- Phenotype associated with ring 10 chromosome: report of patient and review of literature. (1981) (14)
- Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation. (1996) (13)
- Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes (2021) (13)
- Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders. (2017) (13)
- Diagnostic genetic testing for neurodevelopmental psychiatric disorders: closing the gap between recommendation and clinical implementation. (2021) (13)
- Proceedings of the Second International Workshop on Human Chromosome 17 Mapping 1991 (1991) (13)
- Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers (2020) (13)
- The evolution of molecular ruler analysis for characterizing telomere imbalances: from fluoresence in situ hybridization to array comparative genomic hybridization (2007) (12)
- Issues in genetic testing for ultra-rare diseases: background and introduction (2008) (12)
- Spatial organization of ABR and CRK genes on human chromosome band 17p13.3. (1995) (12)
- Congenital 21-hydroxylase deficiency as a new deletion mutation. Detection in a proband during subsequent prenatal diagnosis by HLA typing and DNA analysis. (1992) (12)
- Assignment of a human skeletal muscle sodium channel alpha-subunit gene (SCN4A) to 17q23.1-25.3. (1991) (12)
- Isochromosome 15q of maternal origin in two Prader-Willi syndrome patients previously diagnosed erroneously as cytogenetic deletions. (1994) (12)
- Deletion within the D17S34 locus in a primitive neuroectodermal tumor. (1997) (12)
- Fragile (X) expression induced by FUdR is transient and inversely related to levels of thymidylate synthase activity. (1985) (12)
- Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3. (1999) (12)
- The CCAAT/enhancer binding protein (C/EBP alpha) gene (CEBPA) maps to human chromosome 19q13.1 and the related nuclear factor NF-IL6 (C/EBP beta) gene (CEBPB) maps to human chromosome 20q13.1. (1992) (11)
- Chromosome abnormalities and Williams syndrome. (1988) (11)
- The Etiology of Prader-Willi Syndrome: Clinical Implications of the Chromosome 15 Abnormalities (1988) (11)
- Chromosomal assignment and regional localization of myeloperoxidase in the mouse. (1990) (11)
- GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms (2020) (11)
- Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities (1996) (10)
- Leveraging population‐based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project (2021) (10)
- Long overdue: including adults with brain disorders in precision health initiatives. (2020) (10)
- Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders (2019) (10)
- Gene patenting and licensing: the role of academic researchers and advocacy groups (2008) (10)
- Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation. (1998) (9)
- Report of the committee on the genetic constitution of chromosome 17. (1990) (9)
- Mapping of a cerebellar degeneration related protein and DXS304 around the fragile site. (1991) (9)
- A somatic cell hybrid map of human chromosome 13. (1993) (9)
- Localization of cloned unique DNA to three different regions of chromosome 19: screen for linkage probes for myotonic dystrophy. (1985) (8)
- Integration of the transabdominal technique into an ongoing chorionic villus sampling program. (1989) (8)
- Assignment1 of the bystin gene BYSL to human chromosome band 6p21.1 by in situ hybridization (1999) (8)
- Wilms tumor in a patient with Prader-Willi syndrome. (1993) (8)
- Amniotic-fluid-cell-culture failure and syringe toxicity revisited. (1982) (7)
- Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders (2020) (7)
- Expression of the fragile (X) chromosome in an interspecific somatic cell hybrid (2004) (7)
- Fra(10)(q25): the BrdU effect is substitution-dependent. (1985) (7)
- X‐linked lymphoproliferative disease: prenatal detection of an unaffected histocompatible male (1992) (7)
- A new family with fra(10)(q25): spontaneous expression and 100% expression with 100 microM BrdU. (1985) (7)
- An anonymous single-copy clone, pC63, from chromosome 17q23-qter identifies a frequent RFLP [HGM9 No. D17S21]. (1987) (7)
- Current controversies in prenatal diagnosis 3: the ethical and counseling implications of new genomic technologies: all pregnant women should be offered prenatal diagnostic genome‐wide testing for prenatally identified fetal congenital anomalies (2015) (7)
- Isodicentric X chromosome in a patient with Turner syndrome — implications for localization of the X-inactivation center (1991) (6)
- Abstracts of workshop presentations pp. 1040-1056 (1989) (6)
- Determination of the origin of nondisjunction in a 49,XXXXY male using hypervariable dinucleotide repeat sequences (1991) (6)
- Molecular cytogenetic and clinical findings in a patient with a small supernumerary r(8) mosaicism (2008) (6)
- Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes (2017) (6)
- Isolation of a human chromosome 14-only somatic cell hybrid: analysis using Alu and LINE-based PCR. (1991) (6)
- Abstracts of workshop presentations pp. 1023-1039 (1989) (5)
- A trisomic child after in vitro fertilization: result of paternal nondisjunction. (1985) (5)
- Genetic heterogeneity of aniridia: negative linkage data. (1980) (5)
- Satellited chromosome 10 detected prenatally in a fetus and confirmed as mosaic in a parent (1999) (5)
- Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses (2021) (5)
- “New microdeletion syndromes: complex, but no new paradigms” (2009) (5)
- Erratum: Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia (The American Journal of Human Genetics (2010) 87 (618-630)) (2011) (5)
- Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population. (2022) (5)
- Abstracts of workshop presentations pp. 948-967 (1989) (5)
- Summary of Human Gene Map, New Haven, HGM – 1, 1973, ‘Data 1' (1989) (4)
- Localization of the cellular retinoic acid binding protein (CRABP) gene relative to the acute promyelocytic leukemia-associated breakpoint on human chromosome 15 (1991) (4)
- Abstracts of workshop presentations pp. 1057-1074 (1989) (4)
- Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry (2021) (4)
- Calendar of Events: 1991 — 1992 (1991) (4)
- Exome sequencing and characterization of 49,960 individuals in the UK Biobank (2020) (4)
- Cosmid 128 defines three RFLPs on chromosome 17q23-qter. [HGM9 no. D17S77] (1988) (4)
- Complete cDNA sequence and chromosomal localization of mouse alpha 1-antitrypsin. (1990) (4)
- Unilateral cleft lip in a boy with Angelman syndrome. (1996) (4)
- Abstracts of workshop presentations pp. 1075-1091 (1989) (3)
- Duplication 11p11.3 leads to 14.1 to meiotic crossing--over. (1980) (3)
- Replication banding and molecular studies of a mosaic, unbalanced dic(X;15)(Xpter-->Xq26.1::15p11-->15qter). (1995) (3)
- Response to Saul and Moeschler “How best to use CGH arrays in the clinical setting” (2009) (3)
- Corrigendum: A complete set of human telomeric probes and their clinical application (1996) (3)
- Response to Buxbaum et al. (2020) (3)
- Multiple Recurrent De Novo Copy Number Variations , Including Duplications of the 7 q 11 . 23 Williams-Beuren Syndrome Region , Are Associated with Autism (2011) (3)
- Clinical Applications of Whole-Genome Chromosomal Microarray Analysis (2013) (3)
- Molecular Cytogenetic Analysis of Telomere Rearrangements (2000) (3)
- Risk factors associated with transcervical CVS losses (1992) (2)
- 1289 PROSPECTIVE CLINICAL AND CYTOGENETIC STUDY OF DiGEORGE SEQUENCE (1985) (2)
- Abstract 16563: Genetic and Pharmacological Inactivation of ANGPTL3 is Associated With Reduced Atherosclerotic Cardiovascular Disease (2016) (2)
- Prevalence and Penetrance of Rare Pathogenic Variants in Neurodevelopmental Psychiatric Genes in a Health Care System Population. (2022) (2)
- A unique case of uniparental disomy of chromosome 6 and neonatal diabetes with macroglossia (1997) (2)
- Abstracts of workshop presentations pp. 1106-1116 (1989) (2)
- Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis (1987) (2)
- Regional mapping panel for human chromosome 17 (1987) (2)
- Medical manifestations and healthcare utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants (2021) (1)
- Contents Vol. 55, 1990 (1990) (1)
- Physical mapping studies in Xq27 to Xq28 - analysis of a novel DNA marker close to the fragile site (1989) (1)
- SmoothMuscle-Mediated Connective Tissue Remodeling inPulmonary Hypertension (1987) (1)
- An anonymous single-copy clone, p55-B1, from chromosome 17 identifies a TaqI RFLP [HGM9 no. D17S86]. (1989) (1)
- Molecular characterization of human telomeres: extension of integrated physical maps and strategies for genotype-phenotype correlations. (1997) (1)
- Chromosomal Microarray Testing For Children With Unexplained Neurodevelopmental Disorders (2017) (1)
- Report of the committee on cytogenetic markers. (1988) (1)
- Mapping of human methylmalonyl CoA mutase (MUT) on chromosome 6 (1988) (1)
- RFLPs revealed by cosmid 131 [HGM9 no. D17S78] (1988) (1)
- Cosmid 1-26 defines four RFLPs on chromosome 17q23-qter [HGM9 No. D17S20]. (1987) (1)
- The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained (2014) (1)
- ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma (2022) (1)
- Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants (2021) (1)
- Dosage and imprinting effects in abnormalities of human chromosome 15 (1996) (1)
- Phyllis Jean McAlpine, Ph.D, FCCMG (1999) (1)
- Human telomere probes in clinical cytogenetics: probe characteristics, methods, applications and limitations (2000) (0)
- Analysis ofparent oforigin specific DNA methylation atSNRPNandPW71intissues: implication forprenatal diagnosis (1996) (0)
- Guidelines for interpreting abbreviations and specialized phrases in committee text and tables (1989) (0)
- Identification of autism susceptibility candidates on 7q (2000) (0)
- Molecular Cytogenetic Analysis of Telomere Rearrangements (2000) (0)
- International Standardised Cytogenomic Array (ISCA) Consortium : an approach to the design, implementation and reporting of constitutional oligo array-cgh (2009) (0)
- Meeting on DNA Adducts and Mutations in Human Biomonitoring (1996) (0)
- Letter to the editor. (2023) (0)
- in memoriam (1999) (0)
- Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251]. (1990) (0)
- Mapping of the chromosome containing the locus for hypertrophic cardiomyopathy using polymerase chain reaction and radiation hybrids (1991) (0)
- Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non‐canonical E box and acts as a transcriptional repressor (2013) (0)
- An International Standardised Cytogenomic Array (ISCA) Consortium approach to the design, validation, implementation and reporting of constitutional oligo array-CGH (2009) (0)
- A note on the use of HGML LIT literature file numbers (1989) (0)
- Abstract 16237: Hypertrophic Cardiomyopathy in the Geisinger Population: Genetic Architecture and Phenotype (2017) (0)
- Abstract 12130: Risk Stratification of Severe Hypercholesterolemia Using EHR and Sequencing for Familial Hypercholesterolemia Genes (2017) (0)
- Two22qtelomere deletions serendipitously detected byFISH (1998) (0)
- BEYOND MEDICAL ACTIONABILITY: PERSONAL UTILITY OF KNOWING A GENETIC ETIOLOGY (2019) (0)
- Index by Keyword (1989) (0)
- A framework for the investigation of rare genetic disorders in neuropsychiatry (2019) (0)
- Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly (2018) (0)
- FivePolymorphic Microsatellite VNTRs on theHuman X Chromosome (1990) (0)
- Contents, Vol. 29, 1981 (1981) (0)
- Human Genetic Mutant Cell Repository Reports Index (1981) (0)
- Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism. (2023) (0)
- College News: AMERICAN COLLEGE OF MEDICAL GENETICS (2000) (0)
- Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis. (2023) (0)
- Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome. (2022) (0)
- Brief Communication Fra(1O)(q25): The BrdU Effect Is Substitution-Dependent (2006) (0)
- Reviews-X-linked malformations migration of neuronal (2007) (0)
- Precision Medicine for Autism and Related Developmental Brain Disorders (2016) (0)
- College News (1924) (0)
- SHARED GENOMIC CONTRIBUTORS TO DEVELOPMENTAL AND NEUROPSYCHIATRIC DISORDERS (2019) (0)
- Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251] (1990) (0)
- Developing a single cell oligonucleotide array-CGH test for aneuploid screening (2007) (0)
- Improved molecular diagnosis of unparental disomy 15 in Prader-Willi and Angelman syndromes utilizing new short tandem repeats (STRs) mapped to chromosome 15q11.2-q12 (1994) (0)
- Cloning of the human pyruvate carboxylase gene (1984) (0)
- Chromosomal assignment of a large tRNA gene cluster (tRNALeu, tRNAGln, tRNALys, tRNAArg, tRNAGly) to 17p13.1 (1991) (0)
- Clinical Genetic Testing For Children and Families With Autism Spectrum Disorders (2010) (0)
- Exome-wide association studies in general and long-lived populations identify genetic variants related to human age (2020) (0)
- Frequency of FLCN Loss of Function Variants and Birt-Hogg-Dube-Associated Phenotypes in a Healthcare System Population (2022) (0)
- Isolation ofBAC clones spanning theXq22.3 translocation breakpoint inalissencephaly patient with adenovo X;2translocation (1998) (0)
- Electronic Health Record Phenotype in Subjects with Genetic Variants Associated with Arrhythmogenic Right Ventricular Cardiomyopathy: A Study in 30,716 Subjects with Exome Sequencing: Genotype-Phenotype Association in Incidental ARVC Genetic Findings (2017) (0)
- Molecular screening forproximal 15q abnormalities inamentally retarded population (1998) (0)
- Effects of Subretinol ond Systemic Osmolality on the Rote of Subretinol Fluid Resorption (1984) (0)
- Abstract 16505: Sarcomeric Variants in an Imaging-Based, Cardiovascular Phenotype From the Discovehr Cohort (2018) (0)
- Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy (2021) (0)
- Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication (2016) (0)
- Endocrine status and growth hormone treatment in Prader-Willi syndrome (1992) (0)
- Abstract 15754: The Prevalence of Electronic Health Record-Based Clinical Phenotypes in Patients With Pathogenetic Variants Associated With Arrhythmogenic Right Ventricular Cardiomyopathy (2015) (0)
- FineStructure DNA Mapping Studies oftheChromosomal Region Harboring theGenetic Defect in Neurofibromatosis TypeI (1989) (0)
- Index by Abstract Number (1989) (0)
- IDENTIFICATION AND RESULTS DISCLOSURE: OF RARE, PATHOGENIC COPY NUMBER VARIANTS TO ADULT RESEARCH PARTICIPANTS WITH DEVELOPMENTAL BRAIN DISORDERS (2019) (0)
- Advances in Genomic and Genetic Technology That Enhance Detection of Fetal Abnormalities. (2010) (0)
- Subject Index Vol. 29, 1981 (1981) (0)
- International Standardised Cytogenomic Array (ISCA) Consortium (2009) (0)
- Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes (2018) (0)
- Localization oftheHumanThyroxine-bindin g Globulin GenetotheLongArmoftheX Chromosome(Xq21-22) (1987) (0)
- Phenotype of Maternal Uniparental Disomy of Chromosome 6 (UPD6mat) Revealed by 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia (CAH) • 736 (1998) (0)
- Orphan Genetic Disease – making testing a reality (2000) (0)
- Clinical outcomes of a genomic screening program for actionable genetic conditions (2020) (0)
- Expanding patient data sharing: ClinGen’s partnership with Simons Searchlight to submit patient-provided genetic and health information to ClinVar (2021) (0)
- College News (2002) (0)
- Title Page / Table of Contents / Abstracts (1991) (0)
- Abstracts of workshop presentations pp. 1006-1022 (1989) (0)
- Subject Index Vol. 56, 1991 (1991) (0)
- Contents, Vol. 56, 1991 (2004) (0)
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