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Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis JOURNAL ARTICLE published August 2007 in Human Mutation |
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High incidence of cancer in a family segregating a mutation of theATM gene: Possible role of ATM heterozygosity in cancer JOURNAL ARTICLE published December 1999 in Human Mutation |
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Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy JOURNAL ARTICLE published October 2017 in Human Mutation Research funded by Agence Nationale de la Recherche (ANR-13-BSV1-0001) |
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Strømme Syndrome Is a Ciliary Disorder Caused by Mutations inCENPF JOURNAL ARTICLE published April 2016 in Human Mutation |
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Pred‐MutHTP: Prediction of disease‐causing and neutral mutations in human transmembrane proteins JOURNAL ARTICLE published March 2020 in Human Mutation Research funded by Russian Science Foundation (16‐44‐02002) |
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Phenotypic expansion in KIF1A ‐related dominant disorders: A description of novel variants and review of published cases JOURNAL ARTICLE published December 2020 in Human Mutation Research funded by National Institutes of Health (T32 GM08307‐26) | International Rett Syndrome Foundation (3701‐1) | National Human Genome Research Institute (K08 HG008986,UM1 HG006542,UM1 HG008898) |
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ATP1A2 mutations in 11 families with familial hemiplegic migraine JOURNAL ARTICLE published September 2005 in Human Mutation |
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A novel missense mutation in the exon containing the putative ornithine‐binding domain of the OTC enzyme in a female JOURNAL ARTICLE published January 1996 in Human Mutation |
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MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro JOURNAL ARTICLE published May 2018 in Human Mutation |
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Eight novel polymorphisms in the dystrophin gene of african-americans: The rate of polymorphism is high JOURNAL ARTICLE published 1993 in Human Mutation |
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Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: Identification of two new mutations JOURNAL ARTICLE published 1994 in Human Mutation |
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Detection of point mutations by solid-phase methods JOURNAL ARTICLE published 1994 in Human Mutation |
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Mannose 6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R) variants in American and Japanese populations JOURNAL ARTICLE published July 2001 in Human Mutation |
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Ribo-polymerase chain reaction-A facile method for the preparation of chimeric RNA/DNA applied to DNA sequencing JOURNAL ARTICLE published June 2012 in Human Mutation |
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Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency JOURNAL ARTICLE published July 2001 in Human Mutation |
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A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria JOURNAL ARTICLE published July 2006 in Human Mutation |
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Hereditary coproporphyria: Exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene JOURNAL ARTICLE published 1997 in Human Mutation |
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Screening forESR mutations in breast and ovarian cancer patients JOURNAL ARTICLE published 1997 in Human Mutation |
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Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2 JOURNAL ARTICLE published December 2015 in Human Mutation |
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Biochemical and structural characterization of two variants of uncertain significance in the PMS2 gene JOURNAL ARTICLE published April 2019 in Human Mutation Research funded by National Institute of Environmental Health Sciences (5R00ES024417‐04) |