Associated Papers
Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.
Chiorean A et al.
Scientific Reports, 2020
33139814 (PubMed )
Supplement: 41598_2020_75919_MOESM2_ESM.xlsx › LOF_and_nonsynonymous_mutations
Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype.
Kluska A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2019
Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.
Traboulsee AL et al.
Human Genetics, 2017
Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations.
Adebali O et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
26890452 (PubMed )
Supplement: gim2015208x1.zip › S1_Table.xls › Sheet1
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
Wassif CA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Distinct evolutionary trajectories of primary high-grade serous ovarian cancers revealed through spatial mutational profiling.
Bashashati A et al.
The Journal of Pathology, 2013
23780408 (PubMed )
Supplement: path0231-0021-sd16.xls › TableS2
Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.
Zech M et al.
Plos One, 2013
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