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Evidence that WT1 mutations in Denys — Drash syndrome patients may act in a dominant-negative fashion JOURNAL ARTICLE published 1993 in Human Molecular Genetics |
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Inferring primary tumor sites from mutation spectra: a meta-analysis of histology-specific aberrations in cancer-derived cell lines JOURNAL ARTICLE published 15 March 2014 in Human Molecular Genetics |
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AAV9-mediated delivery of miR-23a reduces disease severity in Smn2B/−SMA model mice JOURNAL ARTICLE published 1 October 2019 in Human Molecular Genetics Research funded by National Institutes of Health (R21NS106490,T32 GM008396,R25GM064120) |
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A trans-ethnic genome-wide association study identifies gender-specific loci influencing pediatric aBMD and BMC at the distal radius JOURNAL ARTICLE published 1 September 2015 in Human Molecular Genetics Research funded by National Institutes of Health (HD58886, HD076321) | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (N01-HD-1-3228, -3329, -3330, -3331, -3332, -3333) | National Institutes of Health (NIH) Clinical and Translational Science Award (CTSA) (8 UL1 TR000077) |
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A new MHC-linked susceptibility locus for primary Sjögren’s syndrome: MICA JOURNAL ARTICLE published 1 July 2017 in Human Molecular Genetics |
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Comparison of pathways controlling toxicity in the eye and brain in Drosophila models of human neurodegenerative diseases JOURNAL ARTICLE published 15 September 2004 in Human Molecular Genetics |
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Pathway analysis of cervical cancer genome-wide association study highlights the MHC region and pathways involved in response to infection JOURNAL ARTICLE published 15 November 2014 in Human Molecular Genetics |
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Nemo-like kinase reduces mutant huntingtin levels and mitigates Huntington’s disease JOURNAL ARTICLE published 28 May 2020 in Human Molecular Genetics Research funded by NIH (R21MH119803,R01NS088321,R01NS083706,R21NS099670,R21NS094886,R01NS082338) |
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Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease JOURNAL ARTICLE published 1995 in Human Molecular Genetics |
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MATS: a novel multi-ancestry transcriptome-wide association study to account for heterogeneity in the effects of cis-regulated gene expression on complex traits JOURNAL ARTICLE published 6 April 2023 in Human Molecular Genetics Research funded by National Institutes of Health (R01GM126002,R01HL116720,U01AG073079,RF1 AG067924,R01AG069895,R01AG065636) |
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A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions JOURNAL ARTICLE published 1 May 2017 in Human Molecular Genetics |
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Strategies to prevent cleavage of the linker region between ligand-binding repeats 4 and 5 of the LDL receptor JOURNAL ARTICLE published 15 November 2019 in Human Molecular Genetics |
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Functional evaluation of genetic variation in complex human traits JOURNAL ARTICLE published 15 October 2012 in Human Molecular Genetics |
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The road to pluripotence: the research response to the embryonic stem cell debate JOURNAL ARTICLE published 15 April 2008 in Human Molecular Genetics |
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Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum JOURNAL ARTICLE published 6 March 2023 in Human Molecular Genetics Research funded by National Institutes of Health (HL165270,HL150589,HL143067) |
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Selective demethylation and altered gene expression are associated with ICF syndrome in human-induced pluripotent stem cells and mesenchymal stem cells JOURNAL ARTICLE published 15 December 2014 in Human Molecular Genetics |
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Modeling prior information of common genetic variants improves gene discovery for neuroticism JOURNAL ARTICLE published 15 November 2017 in Human Molecular Genetics Research funded by National Institute of Mental Health (R01MH100351) |
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Whole-exome sequencing and functional validation reveal a rare missense variant in MMP7 that confers ovarian endometriosis risk JOURNAL ARTICLE published 17 August 2022 in Human Molecular Genetics Research funded by National Natural Science Foundation of China (81660432,82160291) | Science and Technology Plan of Health Commission of Jiangxi Province (20203BBG73042,20181BBG70018) |
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Errata JOURNAL ARTICLE published 1 November 1999 in Human Molecular Genetics |
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Contents Page JOURNAL ARTICLE published 1 February 2010 in Human Molecular Genetics |