David H. Ledbetter

David H. Ledbetter's AcademicInfluence.com Rankings

David H. Ledbetter

Computer Science

#4715

World Rank

#4978

Historical Rank

Computational Linguistics

#509

World Rank

#517

Historical Rank

Machine Learning

#1019

World Rank

#1034

Historical Rank

Artificial Intelligence

#1243

World Rank

#1266

Historical Rank

computer-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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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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