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Impact of next generation sequencing: The 2009 Human Genome Variation Society Scientific Meeting JOURNAL ARTICLE published April 2010 in Human Mutation |
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Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome JOURNAL ARTICLE published March 2004 in Human Mutation |
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Sequence diversity ofKIAA0027/MLC1:are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? JOURNAL ARTICLE published January 2003 in Human Mutation |
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PhenCode: connecting ENCODE data with mutations and phenotype JOURNAL ARTICLE published June 2007 in Human Mutation |
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Heterozygous Deletion ofFOXA2Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia JOURNAL ARTICLE published June 2015 in Human Mutation Research funded by National Institute of Diabetes and Digestive and Kidney Diseases (R01-DK090045) | National Institute of Diabetes and Digestive and Kidney Diseases (U01-DK062481) | National Center for Advancing Translational Sciences (UL1-TR000003) |
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The c.43_44insCTG variation inPCSK9 is associated with low plasma LDL-cholesterol in a Caucasian population JOURNAL ARTICLE published May 2006 in Human Mutation |
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A variant in acis-regulatory element enhances claudin-14 expression and is associated with pediatric-onset hypercalciuria and kidney stones JOURNAL ARTICLE published June 2017 in Human Mutation Research funded by Canadian Institutes of Health Research (136891,142251) |
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Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome JOURNAL ARTICLE published December 1999 in Human Mutation |
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The ARVD/C Genetic Variants Database: 2014 Update JOURNAL ARTICLE published April 2015 in Human Mutation Research funded by Netherlands Heart Foundation (2007B132) |
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Five families with arginine519-cysteine mutation in COL2A1: Evidence for three distinct founders JOURNAL ARTICLE published 1998 in Human Mutation |
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VARIATION, DATABASES, and DISEASE: New directions forHuman Mutation JOURNAL ARTICLE published August 2000 in Human Mutation |
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Functional analysis of polymorphisms in the promoter regions of genes on 22q11 JOURNAL ARTICLE published July 2004 in Human Mutation |
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A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of α-ketoglutarate dehydrogenase deficiency JOURNAL ARTICLE published March 2005 in Human Mutation |
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The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases JOURNAL ARTICLE published 17 February 2022 in Human Mutation |
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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy JOURNAL ARTICLE published June 2012 in Human Mutation |
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Nonsynonymous variants in theSMAD6gene predispose to congenital cardiovascular malformation JOURNAL ARTICLE published April 2012 in Human Mutation |
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SIX1mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR JOURNAL ARTICLE published April 2008 in Human Mutation Research funded by Doris Duke Clinical Research Fellowship (AK), National Institutes of Health (NIH-NIDCR 5R01DE014090-04 (WJK),NIH-NIDCD 5R01DC003544-09 (RJHS)) |
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Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency JOURNAL ARTICLE published October 2022 in Human Mutation |
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Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform JOURNAL ARTICLE published October 2015 in Human Mutation Research funded by NIH (R01NS075764,5R01NS072248,U54NS065712) |
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ThePAH gene, phenylketonuria, and a paradigm shift JOURNAL ARTICLE published September 2007 in Human Mutation |