Aim & Scope
Human Molecular Genetics concentrates on full-length research papers covering a wide range of topics in all aspects of human molecular genetics. These include: the molecular basis of human genetic disease developmental genetics neurogenetics chromosome structure and function molecular aspects of cancer genetics gene therapy biochemical genetics major advances in gene mapping understanding of genome organisation In addition the journal also publishes research on other model systems for the analysis of genes especially when there is an obvious relevance to human genetics. Key features of the journal include: Articles - comprehensive reports and definitive research findings of interest to a broad audience of human molecular geneticists. We encourage inclusion of full experimental details with as many display items (figures and tables) as required to tell the complete story. Reports - descriptions of novel results of biological and genetic importance in the field. Commentaries - these discuss recent papers in the journal or review areas of particular interest in the field. Now in its eighth year of publication Human Molecular Genetics has clearly become one of the leading journals in this exciting frontier of scientific research. With the enthusiastic support of the executive editors and editorial board we intend to ensure that the journal's reputation for quality is reinforced in the years to come. [1]
2024
Multi-ancestry polygenic risk scores for venous thromboembolism.
YH Jee , F Thibord , A Dominguez , ... , INVENT Consortium
Human Molecular Genetics , 2024
Reduced levels of MRE11 cause disease phenotypes distinct from ataxia telangiectasia-like disorder
AJ Hartlerode , AM Mostafa , SK Orban , ... , JM Sekiguchi
Human Molecular Genetics , 2024
L Vicuña , E Barrientos , V Leiva-Yamaguchi , ... , S Eyheramendy
Human Molecular Genetics , 2024
Extended haplotype with rs41524547-G defines the ancestral origin of SCA10.
KN McFarland , A Tiwari , V Hashem , ... , T Ashizawa
Human Molecular Genetics , 2024
MZ Jiang , SM Gaynor , X Li , ... , NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Inflammation Working Group
Human Molecular Genetics , 2024
Exploring the complexity of systemic sclerosis etiology by trio whole genome sequencing.
H Dai , S Ketkar , T Tan , ... , B Lee
Human Molecular Genetics , 2024
Editorial Retractions, Expressions of Concern and External Notices
BC Lin , TH Phung , NR Higgins , ... , MJ Monteiro
Human Molecular Genetics2021 - VOLUME 30, ISSUE 13 pp 1230-1246.
10 83
Defective bone mineralization and osteopenia in young adult FGFR3-/- mice.
G Valverde-Franco , H Liu , D Davidson , ... , JE Henderson
Human Molecular Genetics2004 - VOLUME 13, ISSUE 3 pp 271-284.
56 0
Y Xue , AC Karaplis , GN Hendy , ... , D Miao
Human Molecular Genetics2005 - VOLUME 14, ISSUE 11 pp 1515-1528.
50 32
F Flamein , L Riffault , C Muselet-Charlier , ... , L Guillot
Human Molecular Genetics2012 - VOLUME 21, ISSUE 4 pp 765-775.
44 35
Therapeutic targeting of BET bromodomain protein, Brd4, delays cyst growth in ADPKD.
X Zhou , LX Fan , DJ Peters , ... , X Li
Human Molecular Genetics2015 - VOLUME 24, ISSUE 14 pp 3982-3993.
36 51
V Sancenon , SA Lee , C Patrick , ... , PJ Muchowski
Human Molecular Genetics2012 - VOLUME 21, ISSUE 11 pp 2432-2449.
29 89
U Narayanan , JK Ospina , MR Frey , ... , AG Matera
Human Molecular Genetics2002 - VOLUME 11, ISSUE 15 pp 1785-1795.
60 66
C Belal , NJ Ameli , A El Kommos , ... , SL Chan
Human Molecular Genetics2012 - VOLUME 21, ISSUE 5 pp 963-977.
40 44