Hum Genet

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  Publication Venue For

  • Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene..  141:1761-1769. 2022
  • Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy..  140:1109-1120. 2021
  • Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder..  138:1259-1266. 2019
  • Rare loss of function variants in candidate genes and risk of colorectal cancer..  137:795-806. 2018
  • Trans-ethnic fine-mapping of genetic loci for body mass index in the diverse ancestral populations of the Population Architecture using Genomics and Epidemiology (PAGE) Study reveals evidence for multiple signals at established loci..  136:771-800. 2017
  • Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21..  135:923-938. 2016
  • Assessing the genetic architecture of epithelial ovarian cancer histological subtypes..  135:741-756. 2016
  • De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features..  135:699-705. 2016
  • Linking short tandem repeat polymorphisms with cytosine modifications in human lymphoblastoid cell lines..  135:223-232. 2016
  • Associations of prostate cancer risk variants with disease aggressiveness: results of the NCI-SPORE Genetics Working Group analysis of 18,343 cases..  134:439-450. 2015
  • Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium..  134:131-146. 2015
  • Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma..  133:1289-1297. 2014
  • Hypothesis-independent pathway analysis implicates GABA and acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma..  133:1319-1330. 2014
  • Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA..  133:481-497. 2014
  • Natural and orthogonal model for estimating gene-gene interactions applied to cutaneous melanoma..  133:559-574. 2014
  • Association analysis of 9,560 prostate cancer cases from the International Consortium of Prostate Cancer Genetics confirms the role of reported prostate cancer associated SNPs for familial disease..  133:347-356. 2014
  • Genome-wide association study and meta-analysis of intraocular pressure..  133:41-57. 2014
  • Gene-smoking interactions in multiple Rho-GTPase pathway genes in an early-onset coronary artery disease cohort..  132:1371-1382. 2013
  • Obesity-related genetic variants, human pigmentation, and risk of melanoma..  132:793-801. 2013
  • Polymorphisms of the Interleukin 6 gene contribute to cervical cancer susceptibility in Eastern Chinese women..  132:301-312. 2013
  • HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG)..  132:5-14. 2013
  • Pleiotropy and allelic heterogeneity in the TOMM40-APOE genomic region related to clinical and metabolic features of hepatitis C infection..  131:1911-1920. 2012
  • Insight in glioma susceptibility through an analysis of 6p22.3, 12p13.33-12.1, 17q22-23.2 and 18q23 SNP genotypes in familial and non-familial glioma..  131:1507-1517. 2012
  • Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium..  131:1467-1480. 2012
  • Polymorphisms in the XPG gene and risk of gastric cancer in Chinese populations..  131:1235-1244. 2012
  • Validation of prostate cancer risk-related loci identified from genome-wide association studies using family-based association analysis: evidence from the International Consortium for Prostate Cancer Genetics (ICPCG)..  131:1095-1103. 2012
  • A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder..  131:565-579. 2012
  • High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44..  131:145-156. 2012
  • Risk factors for autism: translating genomic discoveries into diagnostics..  130:123-148. 2011
  • Polymorphic variants in tenascin-C (TNC) are associated with atherosclerosis and coronary artery disease..  129:641-654. 2011
  • AKT1 polymorphisms are associated with risk for metabolic syndrome..  129:129-139. 2011
  • Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16..  129:59-70. 2011
  • Analysis of the indel at the ARMS2 3'UTR in age-related macular degeneration..  127:595-602. 2010
  • Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes..  127:163-182. 2010
  • Variants in toll-like receptors 2 and 9 influence susceptibility to pulmonary tuberculosis in Caucasians, African-Americans, and West Africans..  127:65-73. 2010
  • NOS2A, TLR4, and IFNGR1 interactions influence pulmonary tuberculosis susceptibility in African-Americans..  126:643-653. 2009
  • Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosis..  125:217-229. 2009
  • Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations. 2018