Issue navigation
Volume 25, Issue 3, 1 February 2016
Articles
Large-scale probabilistic 3D organization of human chromosome territories
Nitasha Sehgal and others
Human Molecular Genetics, Volume 25, Issue 3, 1 February 2016, Pages 419–436, https://doi.org/10.1093/hmg/ddv479
Urogenital development in Pallister–Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor
Joshua Blake and others
Human Molecular Genetics, Volume 25, Issue 3, 1 February 2016, Pages 437–447, https://doi.org/10.1093/hmg/ddv483
Disruption of polycystin-L causes hippocampal and thalamocortical hyperexcitability
Gang Yao and others
Human Molecular Genetics, Volume 25, Issue 3, 1 February 2016, Pages 448–458, https://doi.org/10.1093/hmg/ddv484
Mitochondrial defects and neurodegeneration in mice overexpressing wild-type or G399S mutant HtrA2
Nicolas Casadei and others
Human Molecular Genetics, Volume 25, Issue 3, 1 February 2016, Pages 459–471, https://doi.org/10.1093/hmg/ddv485
Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD
Marie-Laure Sobrier and others
Human Molecular Genetics, Volume 25, Issue 3, 1 February 2016, Pages 472–483, https://doi.org/10.1093/hmg/ddv486
Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions
Morten Hillmer and others
Human Molecular Genetics, Volume 25, Issue 3, 1 February 2016, Pages 484–496, https://doi.org/10.1093/hmg/ddv487
OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome
Véronique Chevrier and others
Human Molecular Genetics, Volume 25, Issue 3, 1 February 2016, Pages 497–513, https://doi.org/10.1093/hmg/ddv488
SMN deficiency does not induce oxidative stress in SMA iPSC-derived astrocytes or motor neurons
Teresa N. Patitucci and Allison D. Ebert
Human Molecular Genetics, Volume 25, Issue 3, 1 February 2016, Pages 514–523, https://doi.org/10.1093/hmg/ddv489
Impact of the Usher syndrome on olfaction
Fabian Jansen and others
Human Molecular Genetics, Volume 25, Issue 3, 1 February 2016, Pages 524–533, https://doi.org/10.1093/hmg/ddv490
TDP-43 functions within a network of hnRNP proteins to inhibit the production of a truncated human SORT1 receptor
Fatemeh Mohagheghi and others
Human Molecular Genetics, Volume 25, Issue 3, 1 February 2016, Pages 534–545, https://doi.org/10.1093/hmg/ddv491
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder
Elliot Sollis and others
Human Molecular Genetics, Volume 25, Issue 3, 1 February 2016, Pages 546–557, https://doi.org/10.1093/hmg/ddv495
The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome
Kyla Brown and others
Human Molecular Genetics, Volume 25, Issue 3, 1 February 2016, Pages 558–570, https://doi.org/10.1093/hmg/ddv496
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Danny Halim and others
Human Molecular Genetics, Volume 25, Issue 3, 1 February 2016, Pages 571–583, https://doi.org/10.1093/hmg/ddv497
The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation
Pingping Jiang and others
Human Molecular Genetics, Volume 25, Issue 3, 1 February 2016, Pages 584–596, https://doi.org/10.1093/hmg/ddv498
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome
Anshika Srivastava and others
Human Molecular Genetics, Volume 25, Issue 3, 1 February 2016, Pages 597–608, https://doi.org/10.1093/hmg/ddv499
ASSOCIATION STUDIES ARTICLES
Epigenome-wide association study identifies TXNIP gene associated with type 2 diabetes mellitus and sustained hyperglycemia
Carolina Soriano-Tárraga and others
Human Molecular Genetics, Volume 25, Issue 3, 1 February 2016, Pages 609–619, https://doi.org/10.1093/hmg/ddv493
Meta-analysis of genome-wide association studies identifies multiple lung cancer susceptibility loci in never-smoking Asian women
Zhaoming Wang and others
Human Molecular Genetics, Volume 25, Issue 3, 1 February 2016, Pages 620–629, https://doi.org/10.1093/hmg/ddv494
FRONT-MATTER/BACK-MATTER
Editorial Board
Human Molecular Genetics, Volume 25, Issue 3, 1 February 2016, Page NP, https://doi.org/10.1093/hmg/ddv532
Cover Page
Human Molecular Genetics, Volume 25, Issue 3, 1 February 2016, Page NP, https://doi.org/10.1093/hmg/ddv556
Subscription Page
Human Molecular Genetics, Volume 25, Issue 3, 1 February 2016, Page NP, https://doi.org/10.1093/hmg/ddv580
Contents Page
Human Molecular Genetics, Volume 25, Issue 3, 1 February 2016, Page NP, https://doi.org/10.1093/hmg/ddv604
Advertisement intended for healthcare professionals
Advertisement intended for healthcare professionals