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Germline mutation profile of the VHL gene in von Hippel‐Lindau disease and in sporadic hemangioblastoma JOURNAL ARTICLE published 1998 in Human Mutation |
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Myopathy can be a key phenotype of membrin (GOSR2) deficiency JOURNAL ARTICLE published September 2021 in Human Mutation |
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A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly JOURNAL ARTICLE published June 2018 in Human Mutation Research funded by Wellcome Trust (090532/Z/09/Z) | Health Innovation Challenge Fund (HICF-1009-003) |
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First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs JOURNAL ARTICLE published November 2011 in Human Mutation |
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JOURNAL ISSUE published March 2001 in Human Mutation |
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Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7) JOURNAL ARTICLE published October 2004 in Human Mutation Research funded by Federal Ministry of Education and Research (Fö 01KS9602) | National Institutes of Health (AI49475) |
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Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients JOURNAL ARTICLE published February 2001 in Human Mutation |
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Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups JOURNAL ARTICLE published 1998 in Human Mutation |
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Eosinophilic peroxidase deficiency: Identification of a point mutation (D648N) and prediction of structural changes JOURNAL ARTICLE published March 2001 in Human Mutation |
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Expression and analysis of CLN2 variants in CHO cells: Q100r represents a polymorphism, and G389E and R447H represent loss-of-function mutations JOURNAL ARTICLE published August 2001 in Human Mutation |
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Ontological phenotype standards for neurogenetics JOURNAL ARTICLE published September 2012 in Human Mutation |
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NovelPEX1 coding mutations and 5′ UTR regulatory polymorphisms JOURNAL ARTICLE published September 2005 in Human Mutation |
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Metachromatic leukodystrophy in the Navajo Indian population: A splice site mutation in intron 4 of the arylsulfatase a gene JOURNAL ARTICLE published 1994 in Human Mutation |
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Analysis of mutational changes at the HLA locus in single human sperm JOURNAL ARTICLE published 1995 in Human Mutation |
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A novel deletion in the low-density lipoprotein receptor gene in a patient with familial hypercholesterolemia from Petersburg JOURNAL ARTICLE published 1993 in Human Mutation |
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Familial genetic defect in a case of leukocyte adhesion deficiency JOURNAL ARTICLE published 1993 in Human Mutation |
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Regulatory Single-Nucleotide Variant Predictor Increases Predictive Performance of Functional Regulatory Variants JOURNAL ARTICLE published November 2016 in Human Mutation Research funded by National Institutes of Health (R01LM009722,R01MH105524,1K22CA143148) |
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JOURNAL ISSUE published August 2015 in Human Mutation |
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BTK mutations in patients with X-linked agammaglobulinemia: Lack of correlation between presence of peripheral B lymphocytes and specific mutations JOURNAL ARTICLE published December 2000 in Human Mutation |
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Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activity JOURNAL ARTICLE published March 2011 in Human Mutation |