Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

(2016) Gavin Arno et al.   AMERICAN JOURNAL OF HUMAN GENETICS

RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options

(2016) James J L Tee et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service

(2016) K.N. Khan et al.   CLINICAL GENETICS

Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention

(2016) So Young Kim et al.   JOURNAL OF GENE MEDICINE

Molecular findings from 537 individuals with inherited retinal disease

(2016) Jamie M Ellingford et al.   JOURNAL OF MEDICAL GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel

(2016) Nereida Bravo-Gil et al.   Scientific Reports

Association ofPRPS1Mutations with Disease Phenotypes

(2015) Rahul Mittal et al.   DISEASE MARKERS

Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling

(2015) Marta Gandía et al.   PEDIATRIC RESEARCH

YASARA View—molecular graphics for all devices—from smartphones to workstations

(2014) Elmar Krieger et al.   BIOINFORMATICS

ISCEV Standard for full-field clinical electroretinography (2015 update)

(2014) Daphne L. McCulloch et al.   DOCUMENTA OPHTHALMOLOGICA

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders

(2014) Almundher Al-Maawali et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2014) Berta Almoguera et al.   Orphanet Journal of Rare Diseases

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

A comparison of the causes of blindness certifications in England and Wales in working age adults (16–64 years), 1999–2000 with 2009–2010

(2014) Gerald Liew et al.   BMJ Open

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

(2013) Nicola Glöckle et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family

(2013) Isabelle Audo et al.   HUMAN MOLECULAR GENETICS

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

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

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

(2012) Moumita Chaki et al.   CELL

ISCEV standard for clinical pattern electroretinography (PERG): 2012 update

(2012) Michael Bach et al.   DOCUMENTA OPHTHALMOLOGICA

Hearing loss andPRPS1mutations: Wide spectrum of phenotypes and potential therapy

(2012) Xue Zhong Liu et al.   INTERNATIONAL JOURNAL OF AUDIOLOGY

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

(2011) Polona Le Quesne Stabej et al.   JOURNAL OF MEDICAL GENETICS

PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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