Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

(2015) Christopher A. Wassif et al.   GENETICS IN MEDICINE

CDvist: a webserver for identification and visualization of conserved domains in protein sequences

(2014) O. Adebali et al.   BIOINFORMATICS

Defects in the retina of Niemann-pick type C 1 mutant mice

(2014) Xin Yan et al.   BMC NEUROSCIENCE

Bioinformatics for Clinical Next Generation Sequencing

(2014) G. R. Oliver et al.   CLINICAL CHEMISTRY

Hearing Loss is an Early Consequence of Npc1 Gene Deletion in the Mouse Model of Niemann–Pick Disease, Type C

(2014) Kelly A. King et al.   JARO-JOURNAL OF THE ASSOCIATION FOR RESEARCH IN OTOLARYNGOLOGY

Complex lipid trafficking in Niemann-Pick disease type C

(2014) Marie T. Vanier   JOURNAL OF INHERITED METABOLIC DISEASE

A marked paucity of granule cells in the developing cerebellum of the Npc1−/− mouse is corrected by a single injection of hydroxypropyl-β-cyclodextrin

(2014) S. Nusca et al.   NEUROBIOLOGY OF DISEASE

Inactivating Mutations in NPC1L1 and Protection from Coronary Heart Disease

(2014)   NEW ENGLAND JOURNAL OF MEDICINE

Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years

(2014) Helena Jahnova et al.   Orphanet Journal of Rare Diseases

Protter: interactive protein feature visualization and integration with experimental proteomic data

(2013) Ulrich Omasits et al.   BIOINFORMATICS

Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools

(2013) S. Castellana et al.   BRIEFINGS IN BIOINFORMATICS

MAFFT Multiple Sequence Alignment Software Version 7: Improvements in Performance and Usability

(2013) K. Katoh et al.   MOLECULAR BIOLOGY AND EVOLUTION

Molecular genetic testing and the future of clinical genomics

(2013) Sara Huston Katsanis et al.   NATURE REVIEWS GENETICS

Pfam: the protein families database

(2013) Robert D. Finn et al.   NUCLEIC ACIDS RESEARCH

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators

(2013) Miriam Stampfer et al.   Orphanet Journal of Rare Diseases

Clinical application of amplicon-based next-generation sequencing in cancer

(2013) Fengqi Chang et al.   Cancer Genetics

Inferring causality and functional significance of human coding DNA variants

(2012) S. R. Sunyaev   HUMAN MOLECULAR GENETICS

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

(2012) Marc C. Patterson et al.   MOLECULAR GENETICS AND METABOLISM

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

(2011) Xuntian Jiang et al.   JOURNAL OF LIPID RESEARCH

On the Origins of Mendelian Disease Genes in Man: The Impact of Gene Duplication

(2011) J. E. Dickerson et al.   MOLECULAR BIOLOGY AND EVOLUTION

Human allelic variation: perspective from protein function, structure, and evolution

(2010) Daniel M Jordan et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease

(2010) F. D. Porter et al.   Science Translational Medicine

Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol

(2009) Hyock Joo Kwon et al.   CELL

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS