Human Genetics

Journal

Publication Venue For

  • Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.  139:483-498. 2020
  • Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data.  138:199-210. 2019
  • Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.  137:847-862. 2018
  • Rare loss of function variants in candidate genes and risk of colorectal cancer.  137:795-806. 2018
  • Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences.  137:511-520. 2018
  • De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.  137:375-388. 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
  • Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.  135:569-586. 2016
  • Host genetics and viral load in primary HIV-1 infection: clear evidence for gene by sex interactions.  133:1187-1197. 2014
  • A unified GMDR method for detecting gene-gene interactions in family and unrelated samples with application to nicotine dependence.  133:139-150. 2014
  • Genetic variants associated with VLDL, LDL and HDL particle size differ with race/ethnicity.  132:405-413. 2013
  • Population stratiWcation may bias analysis of PGC-1α as a modiWer of age at Huntington disease motor onset.  131:1833-1840. 2012
  • Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.  130:685-699. 2011
  • Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay.  130:517-528. 2011
  • Natural selection at genomic regions associated with obesity and type-2 diabetes: East Asians and sub-Saharan Africans exhibit high levels of differentiation at type-2 diabetes regions.  129:407-418. 2011
  • Clear and independent associations of several HLA-DRB1 alleles with diVerential antibody responses to hepatitis B vaccination in youth.  126:685-696. 2009
  • Association of Y chromosome haplogroup I with HIV progression, and HAART outcome.  125:281-294. 2009
  • Genomewide association study for susceptibility genes contributing to familial Parkinson disease.  124:593-605. 2009
  • Replication of association between ELAVL4 and Parkinson disease: The Gene PD study.  124:95-99. 2008
  • Common polymorphisms of ALOX5 and ALOX5AP and risk of coronary artery disease.  123:399-408. 2008
  • Exploring gene-environment interactions in Parkinson's disease.  123:257-265. 2008
  • A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus.  120:262-269. 2006
  • Propensity for paternal inheritance of de novo mutations in Alexander disease.  119:137-144. 2006
  • One step closer to fixing association studies: Evidence for age- and gender-specific allele frequency variations and deviations from Hardy-Weinberg expectations in controls.  118:322-330. 2005
  • Ancestral proportions and their association with skin pigmentation and bone mineral density in Puerto Rican women from New York city.  115:57-68. 2004
  • Genetic and clinical mosaicism in a patient with neurofibromatosis type 1.  114:284-290. 2004
  • Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients.  114:87-98. 2003
  • Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin.  113:406-416. 2003
  • Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies rule out the duplication of the NF1 gene at 17q11.2. A reply.  113:188-190. 2003
  • A genome-wide screen reveals evidence for a locus on chromosome 11 influencing variation in LDL cholesterol in the NHLBI Family Heart Study.  111:263-269. 2002
  • Evidence for a gene influencing heart rate on chromosome 4 among hypertensives.  111:207-213. 2002
  • Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.  108:51-54. 2001
  • Mitochondrial DNA haplogroups and APOE4 allele are non-independent variables in sporadic Alzheimer's disease.  108:194-198. 2001
  • Segregation analysis of serum uric acid in the NHLBI Family Heart Study.  106:355-359. 2000
  • Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2).  107:176-185. 2000
  • Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion.  103:497-505. 1998
  • Molecular characterization and delineation of subtle deletions in de novo 'balanced' chromosomal rearrangements.  103:173-178. 1998
  • Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.  101:75-80. 1997
  • Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly.  100:172-181. 1997
  • HLA-DRA promoter polymorphism and diversity generation within the immune system.  99:801-805. 1997
  • Somatic mosaicism for deletion of the entire NFI gene identified by FISH.  99:209-213. 1997
  • Human malformations similar to those in the mouse mutation disorganization (Ds).  92:461-464. 1993
  • Genetic linkage analysis of bipolar affective disorder in an Old Order Amish pedigree.  88:562-568. 1992
  • Localization of the LDHA gene to 11p14→11p15 by in situ hybridization of an LDHA cDNA probe to two translocations with breakpoints in 11p13.  74:331-334. 1986
  • The role of trypsin in the pre-treatment of chromosomes for giemsa banding.  31:27-33. 1976
  • Dynamic aspects of trypsin-Giemsa banding.  28:233-237. 1975
  • International Standard Serial Number (issn)

  • 0340-6717
  • Electronic International Standard Serial Number (eissn)

  • 1432-1203