Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

(2014) Matthis Synofzik et al.   Orphanet Journal of Rare Diseases

Exome Sequencing Reveals a NovelPRPS1Mutation in a Family with CMTX5 without Optic Atrophy

(2013) Jin Park et al.   Journal of Clinical Neurology

Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I

(2012) Rocio Moran et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment

(2010) Arjan P.M. de Brouwer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sensorineural deafness and peripheral neuropathy

(2010) Richard M. Pauli   CLINICAL GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2

(2009) Xuezhong Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans

(2007) Véronique Bolduc et al.   JOURNAL OF CLINICAL INVESTIGATION