Human Molecular Genetics

Edit Your Profile

Human Molecular Genetics Journal

publication venue for

Ligand distances as key predictors of pathogenicity and function in NMDA receptors. 34:128-139. 2025
Candidate pathway analysis of surfactant proteins identifies CTSH and SFTA2 that influences lung cancer risk.. 32:2842-2855. 2023
Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci. 24:3595-3607. 2015
Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect. 23:2880-2887. 2014
Subcortical dopaminergic deficits in a DISC1 mutant model: a study in direct reference to human molecular brain imaging. 22:1574-1580. 2013
Entorhinal cortical neurons are the primary targets of FUS mislocalization and ubiquitin aggregation in FUS transgenic rats. 21:4602-4614. 2012
Association of 8q22.3 locus in Chinese Han with idiopathic premature ovarian failure (POF). 21:430-436. 2012
Genetic and epigenetic mechanisms combine to control MMP1 expression and its association with preterm premature rupture of membranes. 17:1087-1096. 2008
Functionally significant SNP MMP8 promoter haplotypes and preterm premature rupture of membranes (PPROM). 13:2659-2669. 2004
A major locus on mouse chromosome 18 controls XX sex reversal in Odd Sex (Ods) mice. 12:509-515. 2003
A novel gene, Pog, is necessary for primordial germ cell proliferation in the mouse and underlies the germ cell deficient mutation, gcd. 11:3047-3053. 2002
Mutations of the GREAT gene cause cryptorchidism. 11:2309-2318. 2002
Altered proteasomal function due to the expression of polyglutamine-expanded truncated N-terminal huntingtin induces apoptosis by caspase activation through mitochondrial cytochrome c release. 10:1049-1059. 2001
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). 8:871-877. 1999
Evolution of the DAZ gene family suggests that Y-linked DAZ plays little, or a limited, role in spermatogenesis but underlines a recent African origin for human populations. 7:1371-1377. 1998
A MOUSE Y-CHROMOSOME GENE ENCODED BY A REGION ESSENTIAL FOR SPERMATOGENESIS AND EXPRESSION OF MALE-SPECIFIC MINOR HISTOCOMPATIBILITY ANTIGENS. 3:873-878. 1994
A NOVEL X-GENE WITH A WIDELY TRANSCRIBED Y-LINKED HOMOLOG ESCAPES X-INACTIVATION IN MOUSE AND HUMAN. 3:879-884. 1994
Genome-wide interaction analysis identified low-frequency variants with sex disparity in lung cancer risk. 2022

International Standard Serial Number (ISSN)

0964-6906

Electronic International Standard Serial Number (EISSN)

1460-2083