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Identification and characterization of novel rapidly mutating Y‐chromosomal short tandem repeat markers JOURNAL ARTICLE published September 2020 in Human Mutation |
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Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused byPAPSS2Mutations JOURNAL ARTICLE published October 2013 in Human Mutation |
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An association study of polymorphisms in the alpha-antichymotrypsin gene for Alzheimer disease in Han-Chinese JOURNAL ARTICLE published September 2000 in Human Mutation |
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p.Gln200Glu, a putative constitutively active mutant of rod α-transducin (GNAT1) in autosomal dominant congenital stationary night blindness JOURNAL ARTICLE published July 2007 in Human Mutation |
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Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa JOURNAL ARTICLE published 9 February 2024 in Human Mutation |
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Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines JOURNAL ARTICLE published January 2009 in Human Mutation |
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Determination of the mutation spectrum of theEXT1/EXT2genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes inEXTnegative cases JOURNAL ARTICLE published November 2006 in Human Mutation |
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Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency JOURNAL ARTICLE published May 2020 in Human Mutation Research funded by Ministero della Salute (GR‐2011‐02351636) |
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Expanding the Mutational Spectrum ofCRLF1in Crisponi/CISS1 Syndrome JOURNAL ARTICLE published April 2014 in Human Mutation |
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A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients JOURNAL ARTICLE published February 2007 in Human Mutation |
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Induction of phenotype modifying cytokines by FERMT1 mutations JOURNAL ARTICLE published April 2011 in Human Mutation Research funded by DFG (HA 5663/1-1) | The International Kindler Syndrome Network Kindlernet grant from ERANET (01GM0812) |
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Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome JOURNAL ARTICLE published July 2011 in Human Mutation |
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Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9 JOURNAL ARTICLE published August 2012 in Human Mutation |
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Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency JOURNAL ARTICLE published April 2004 in Human Mutation |
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Nonsynonymous SNPs: validation characteristics, derived allele frequency patterns, and suggestive evidence for natural selection JOURNAL ARTICLE published February 2006 in Human Mutation |
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Global spectrum of population‐specific common missense variation in cytochrome P450 pharmacogenes JOURNAL ARTICLE published September 2021 in Human Mutation Research funded by Bioinformatics Institute (IAF‐PP (H18/01/a0/b14)) |
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Meta-analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage JOURNAL ARTICLE published March 2005 in Human Mutation |
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Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2 JOURNAL ARTICLE published November 2021 in Human Mutation Research funded by Ministry of Education, Culture, Sports, Science and Technology (Private University Research Branding Project) | Japan Society for the Promotion of Science (JP19H03624,JP20H05519) | Japan Agency for Medical Research and Development (JP18ek0109177,JP18kk0205002,JP19ek0109273,JP19kk0205014,JP21kk0305015,JP21ek0109468) |
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Prediction of functional regulatory SNPs in monogenic and complex disease JOURNAL ARTICLE published October 2011 in Human Mutation |
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A protein-truncating mutation inCYP17A1 in three sisters with early-onset breast cancer JOURNAL ARTICLE published October 2005 in Human Mutation |