NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene

Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated?

(2019) Sirawit Ittisoponpisan et al.   JOURNAL OF MOLECULAR BIOLOGY

Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report

(2019) Claudia Strafella et al.   Frontiers in Neurology

Non-syndromic retinitis pigmentosa

(2018) Sanne K. Verbakel et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives

(2018) Marina França Dias et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Application of Precision Medicine in Neurodegenerative Diseases

(2018) Claudia Strafella et al.   Frontiers in Neurology

VarSome: the human genomic variant search engine

(2018) Christos Kopanos et al.   BIOINFORMATICS

Next-Generation Sequencing to Diagnose Suspected Genetic Disorders

(2018) David R. Adams et al.   NEW ENGLAND JOURNAL OF MEDICINE

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa

(2018) Johannes Birtel et al.   PLoS One

Assessing individual risk for AMD with genetic counseling, family history, and genetic testing

(2017) R Cascella et al.   EYE

Uncovering genetic and non-genetic biomarkers specific for exudative age-related macular degeneration: significant association of twelve variants

(2017) Raffaella Cascella et al.   Oncotarget

Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario

(2017) Muhammad Umar Ali et al.   3 Biotech

Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario

(2017) Muhammad Umar Ali et al.   3 Biotech

PRPH2/RDS and ROM-1: Historical context, current views and future considerations

(2016) Michael W. Stuck et al.   PROGRESS IN RETINAL AND EYE RESEARCH

High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features

(2015) Gaël Manes et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The Phyre2 web portal for protein modeling, prediction and analysis

(2015) Lawrence A Kelley et al.   Nature Protocols

The Genetics and the Genomics of Primary Congenital Glaucoma

(2015) Raffaella Cascella et al.   Biomed Research International

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Structural characterization of the second intra-discal loop of the photoreceptor tetraspanin RDS

(2012) Dibyendu Chakraborty et al.   FEBS Journal

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene

(2008) Camiel J.F. Boon et al.   PROGRESS IN RETINAL AND EYE RESEARCH