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Human Molecular Genetics cover

Human Molecular Genetics

IF3.2
Papers11306
Citations35412
Journal Papers 11356
Publication Date
The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes
delete2026-07-09
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deleteShruti S Tophkhane; Gamze Akarsu; Sarah J Gignac; Xinyi Xie; Katherine Fu; Esther M Verheyen; Joy M Richman; null
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Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD
delete2026-07-08
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PREAI
deleteRui Dong; Chen Liu; Min Gao; Kunkun Yu; Lei Zhang; Xiaochen Wang; Kaisheng Li; Hongying Li; Kaihui Zhang; Guohua Liu
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The FVB-nmd SMARD1 mouse presents with early respiratory deficits and pathology that significantly impact lifespan
delete2026-07-03
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PREAI
deleteRoxanne Muchow; Michelle Woolridge; Catherine L Smith; Francisco J Llorente Torres; Dennis Perez-Lopez; Nicole L Nichols; Christian L Lorson; Monique A Lorson
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Circulating MYOM3 fragments reflect disease severity and therapeutic efficacy in tubular aggregate myopathy and Stormorken syndrome
delete2026-07-03
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PREAI
deleteEmma Lafabrie; Céline Tard; Pascal Cintas; Agnès Ribes; Jocelyn Laporte; Johann Böhm
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Utrophin requires α-Syntrophin to maintain neuromuscular junction integrity in mdx mice
delete2026-07-02
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PREAI
deleteAlissa Wierenga; Michelle Mendoza; Saad O Malik; Akash Agrawal; Aya Reda; Abigail Maag; Ameen Abou-Rjaily; Chenlang Gao; Mohammed Akaaboune
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A novel gene ACTRT3 mutations induce sperm malformations and fertilization failure via Acrosomal ultrastructural defects
delete2026-07-02
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PREAI
deleteZhenhan Xu; Na Lu; Jintao Guo; Linyan Lv; Yun Hu; Guihua Sun; Haicheng Chen; Linan Xu; Haitao Zeng; Guihua Liu
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Nucleic acid-based therapeutic strategies for modulator-refractory cystic fibrosis-causing variants
delete2026-06-26
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PREAI
deleteMark D Leahy; Immacolata Zollo; Luka A Clarke; Carlos M Farinha
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Nicotinamide riboside prevents mitochondrial dysfunction in nemaline myopathy type 6
delete2026-06-21
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deleteRianne J Baelde; Leander A Vonk; Edgar E Nollet; Ricardo A Galli; Alexcia Fortes Monteiro; Sultan Bastu; Bornale Das; Michel van Weeghel; Bauke V Schomakers; Kasper T Vinten; Marloes van den Berg; Jolanda van der Velden; Riekelt H Houtkooper; Nicol C Voermans; Edoardo Malfatti; Coen A C Ottenheijm; Josine M de Winter
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Evidence that disruption of Discoidin domain receptor 2 contributes to palate malformations through effects on the extracellular matrix
delete2026-06-21
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deleteJulia A Capecki; Helena Shkuro; Öznur Yilmaz; Lisa Schmitt; Khadija Channab; Tobias T Lindenberg; Teresa Kruse; Sarah Achterrath; Berta Crespo; Anna Siewert; Mostafa Bakhshi; Leandra Pantel; Kerstin U Ludwig; Matthias Geyer; Elisabeth Mangold; Benjamin Odermatt; Nina Ishorst; null
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Limited penetrance of dominantly inherited AIRE variants in a population-based cohort
delete2026-06-09
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deleteSuraj N Ramchand; Jacques Murray Leech; Luke N Sharp; Georgia Bonfield; Amber M Luckett; Michael N Weedon; Kashyap A Patel; Gareth Hawkes; Matthew B Johnson
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Disease-specific biomarkers of pathogenic HRAS variants in human immortalized keratinocytes
delete2026-06-09
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PREAI
deleteThomas Mair; Theresa Nauth; Hannah Voß; Verena Rickassel; Sophia Deden; Hartmut Schlüter; Georg Rosenberger
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MIRAGE: a multimodal deep learning framework for interpretable risk assessment of high myopia from genetic and retinal imaging data
delete2026-06-09
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PREAI
deleteYijun Zhou; Shuaishuai Gao; Tao Wang; Wei Dai; Kaicheng Ye; Bowei Ma; Yao Zhou; Shuyan Fan; Yuanyuan Gui; Wenhao Ma; Zhen Ji Chen; Shilai Xing; Jianzhong Su; Jia Qu; Jian Yuan; Yinghao Yao
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Partial TG6 loss of function causes motor deficits in male mice
delete2026-06-04
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deleteLuisa Donini; Linda Sartori; Anna Barbieri; Alice Migazzi; Sergio Robbiati; Maria Pennuto; Manuela Basso
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tubb5 knockout in zebrafish causes neurodevelopmental defects via notch pathways
delete2026-06-04
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PREAI
deleteHuihui Liu; Jinze Li; Linglu Xiao; Meiqi Hou; Zhike Zi; Xianqin Zhang
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Combined periodontitis GWAS identifies LINC01541 as a regulator of innate immunity in the oral mucosa
delete2026-06-01
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PREAI
deleteGesa M Richter; Oluwabukunmi M Akinloye; Tim Kühnlenz; January 3rd Weiner; Birte Holtfreter; Alicia de Coo; Silvia Diz-De Almeida; Bruno G Loos; Søren Jepsen; Henrik Dommisch; Corinna Bruckmann; Ines Kapferer-Seebacher; Georg Homuth; Thomas Kocher; Henry Völzke; Klaus Berger; Matthias Laudes; Wolfgang Lieb; Nathalie van der Velde; Natasja M van Schoor; Lisette de Groot; Juan Blanco; Angel Carracedo; Raquel Cruz; Astrid Dempfle; Alexander Teumer; Sandra Freitag-Wolf; Arne S Schaefer
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Alternative splicing of Scn9a exon 5: mechanistic insights and therapeutic potential in pain disorders
delete2026-06-01
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PREAI
deleteQingyue Fu; Peng Gao; Xinli Wang; Yafei Guo; Haoyan Zhang; Mengqian Xu; Bolin Zhao; Rui Chen; Jialin Bai; Li Wang
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Identification of multi-omic pleiotropy factors for peripheral artery disease
delete2026-06-01
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PREAI
deleteJiaqi Hu; Cassius I Ochoa Chaar; Hongyu Zhao; Andrew T DeWan
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Specific knockout of kidney homogentisate 1,2-dioxygenase reveals that local metabolism of tyrosine and homogentisic acid is negligible in alkaptonuria
delete2026-05-25
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deleteDominic A Rutland; Brendan P Norman; Juliette H Hughes; Peter J M Wilson; Hazel Sutherland; Rebecca L W Brown; James A Gallagher; Lakshminarayan R Ranganath; George Bou-Gharios
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Ultra-rare variants in LAMA2 are risk factors for frontotemporal dementia and motor neuron disease
delete2026-05-21
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deleteHiu Chuen Lok; Carol Dobson-Stone; Marianne Hallupp; Sophie Matis; Ramon Landin-Romero; Boris Guennewig; Hamish Mundell; Anthony S Don; Jennifer Fifita; Emily P McCann; Sandrine Chan Moi Fat; Ian P Blair; Karen A Mather; Anbupalam Thalamuthu; Wei Wen; Perminder S Sachdev; William S Brooks; Olivier Piguet; Glenda M Halliday; Woojin S Kim; John B Kwok; null
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