Human genetics Journal

Overview

publication venue for

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. 2011
The phenotypic effects of small, distal Xq deletions. 1984
De novo trisomy 9pter leads to q13. 1977
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.. 140. 2021
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure.. 140. 2021
High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.. 137. 2018
APOH interacts with FTO to predispose to healthy thinness.. 135. 2015
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.. 134. 2015
A genetic association study detects haplotypes associated with obstructive heart defects.. 133. 2014
Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA.. 133. 2013
Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPD.. 132. 2012
Mutation risk associated with paternal and maternal age in a cohort of retinoblastoma survivors.. 131. 2011
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.. 131. 2011
Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.. 130. 2011
Genetic influence on variation in serum uric acid in American Indians: the strong heart family study.. 126. 2009
Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner.. 125. 2008
Sex-specific effects of ACE I/D and AGT-M235T on pulse pressure: the HyperGEN Study.. 122. 2007
An investigation of genome-wide associations of hypertension with microsatellite markers in the family blood pressure program (FBPP).. 121. 2007
Upstream stimulatory factor 1 associated with familial combined hyperlipidemia, LDL cholesterol, and triglycerides.. 117. 2005
A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree.. 114. 2004
A genome-wide screen reveals evidence for a locus on chromosome 11 influencing variation in LDL cholesterol in the NHLBI Family Heart Study.. 111. 2002
Linkage of body mass index to chromosome 20 in Utah pedigrees.. 109. 2001
Segregation analysis of serum uric acid in the NHLBI Family Heart Study.. 106. 2000
Linkage of interleukin 6 locus to human osteopenia by sibling pair analysis.. 105. 1999
Localization of the human HuR gene to chromosome 19p13.2.. 99. 1997
Revised transthyretin Ile 122 allele frequency in African-Americans.. 98. 1996
Polymorphisms of the prion protein gene in Italian patients with Creutzfeldt-Jakob disease.. 94. 1994
High-resolution cytogenetic characterization of telomeric associations in ring chromosome 19.. 91. 1993
Ovarian dysgenesis in individuals with chromosomal abnormalities.. 86. 1991
A Pro----Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen.. 81. 1989
Human chromosomal heteromorphisms in American blacks. III. Evidence for racial differences in RFA color and QFQ intensity heteromorphisms.. 56. 1981
Population heteromorphisms of Ag-stained nucleolus organizer regions (NORs) in the acrocentric chromosomes of East Indians.. 59. 1981
Sister chromatid differentiation and isolabeling of chromosomes.. 56. 1981
Incidence of chromosomal rearrangements in couples with reproductive loss.. 53. 1980
Centromeric banding (C) of sequentially Q- and R-banded human chromosomes.. 40. 1978
Size variation polymorphisms of the short arm of human acrocentric chrosomes determined by R-banding by fluorescence using acridine orange (RFA).. 38. 1977
A response to "Personalised medicine and population health: breast and ovarian cancer". 2019
Y chromosome haplogroups and prostate cancer in populations of European and Ashkenazi Jewish ancestry. 2012
Personalized medicine: new genomics, old lessons. 2011

Identity

ISO Abbreviation

Hum Genet

Linking ISSN

0340-6717

International Standard Serial Number (ISSN)

0340-6717

Electronic International Standard Serial Number (EISSN)

1432-1203