American journal of human genetics

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Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. 2016
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV. 1999
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. 1997
Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus. 1995
Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second gene. 1993
Hereditary heat-labile hexosaminidase B: its implication for recognizing Tay-Sachs genotypes. 1981
Kniest syndrome with dominant inheritance and mucopolysacchariduria. 1975
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.. 110. 2023
A polygenic-score-based approach for identification of gene-drug interactions stratifying breast cancer risk.. 108. 2021
Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element.. 108. 2021
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease.. 108. 2021
Leveraging phenotypic variability to identify genetic interactions in human phenotypes.. 108. 2020
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.. 105. 2019
Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits.. 104. 2018
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.. 104. 2018
Inferring Identical-by-Descent Sharing of Sample Ancestors Promotes High-Resolution Relative Detection.. 103. 2018
FUN-LDA: A Latent Dirichlet Allocation Model for Predicting Tissue-Specific Functional Effects of Noncoding Variation: Methods and Applications.. 102. 2018
A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.. 102. 2018
A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis.. 100. 2016
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.. 99. 2016
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.. 98. 2016
Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.. 98. 2016
Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores.. 97. 2015
Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression.. 97. 2015
A large-scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility.. 96. 2015
Genome-wide association study identifies five susceptibility loci for follicular lymphoma outside the HLA region.. 95. 2014
AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.. 94. 2014
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.. 94. 2014
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.. 93. 2013
Dissecting disease inheritance modes in a three-dimensional protein network challenges the "guilt-by-association" principle.. 93. 2013
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.. 92. 2013
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.. 92. 2012
Rare de novo germline copy-number variation in testicular cancer.. 91. 2012
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.. 90. 2012
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.. 90. 2012
Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies.. 89. 2011
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.. 87. 2010
Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.. 87. 2010
Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.. 87. 2010
Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans.. 87. 2010
Population genetic structure of the people of Qatar.. 87. 2010
Integration of genomic and genetic approaches implicates IREB2 as a COPD susceptibility gene.. 85. 2009
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.. 84. 2009
RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies.. 81. 2007
Highly sensitive method for genomewide detection of allelic composition in nonpaired, primary tumor specimens by use of affymetrix single-nucleotide-polymorphism genotyping microarrays.. 81. 2007
Medical sequencing at the extremes of human body mass.. 80. 2007
Multiple genes for essential-hypertension susceptibility on chromosome 1q.. 80. 2006
Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.. 79. 2006
Genetic structure, self-identified race/ethnicity, and confounding in case-control association studies.. 76. 2004
Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine.. 73. 2003
The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.. 71. 2002
A novel founder mutation in the RNASEL gene, 471delAAAG, is associated with prostate cancer in Ashkenazi Jews.. 71. 2002
A major predisposition locus for severe obesity, at 4p15-p14.. 70. 2002
FOXP2 is not a major susceptibility gene for autism or specific language impairment.. 70. 2002
A genomewide screen for autism susceptibility loci.. 69. 2001
A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases.. 68. 2001
A genome scan for renal function among hypertensives: the HyperGEN study.. 68. 2000
Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.. 67. 2000
The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group.. 67. 2000
Evidence of linkage of familial hypoalphalipoproteinemia to a novel locus on chromosome 11q23.. 66. 2000
BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer.. 66. 2000
Germ-cell nondisjunction in testes biopsies of men with idiopathic infertility.. 64. 1999
From amplification to gene in thyroid cancer: a high-resolution mapped bacterial-artificial-chromosome resource for cancer chromosome aberrations guides gene discovery after comparative genome hybridization.. 63. 1998
Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study.. 62. 1998
Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers.. 62. 1998
Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.. 62. 1998
The fate of human sperm-derived mtDNA in somatic cells.. 61. 1997
Functional and structural features of a tandem duplication of the human mtDNA promoter region.. 60. 1997
Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.. 59. 1996
Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study.. 58. 1996
Evidence for a major gene influencing 7-year increases in diastolic blood pressure with age.. 57. 1995
Relationship of the apolipoprotein E polymorphism with carotid artery atherosclerosis.. 56. 1995
Clinical and molecular characterization of patients with distal 11q deletions.. 56. 1995
Mutation analysis of the Fanconi anemia gene FACC.. 54. 1994
Role of apolipoprotein E and B gene variation in determining response of lipid, lipoprotein, and apolipoprotein levels to increased dietary cholesterol.. 49. 1991
Characterization of the molecular basis of the alpha 1-antitrypsin F allele.. 48. 1991
No severe bottleneck during human evolution: evidence from two apolipoprotein C-II deficiency alleles.. 48. 1991
Alpha 1-antitrypsin Null(isola di procida): an alpha 1-antitrypsin deficiency allele caused by deletion of all alpha 1-antitrypsin coding exons.. 47. 1990
Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines.. 47. 1990
Characterization of the normal alpha 1-antitrypsin allele Vmunich: a variant associated with a unique protein isoelectric focusing pattern.. 46. 1990
Fine mapping of chromosome 22 breakpoints within the breakpoint cluster region (bcr) implies a role for bcr exon 3 in determining disease duration in chronic myeloid leukemia.. 45. 1989
Linkage analysis of neurofibromatosis type I, using chromosome 17 DNA markers.. 44. 1989
Characterization of the gene and protein of the common alpha 1-antitrypsin normal M2 allele.. 43. 1988
Localization of the human procollagen alpha 1(IV) gene to chromosome 13q34 by in situ hybridization.. 38. 1986
Regarding "Testing for population subdivision and association in four case-control studies". 2002
Refined mapping of suggestive linkage to renal function in African Americans: the HyperGEN study. 2002
The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions. 2001
The APC I1307K allele and BRCA-associated ovarian cancer risk. 1999
Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study. 2020
Characterization of large structural genetic mosaicism in human autosomes. 2015
Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. 2013
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. 2013
Use of a multiethnic approach to identify rheumatoid- arthritis-susceptibility loci, 1p36 and 17q12. 2012
Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere. 2000

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