Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

(2018) Clare Turnbull et al.   BMJ-British Medical Journal

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

(2018) Clare Turnbull et al.   BMJ-British Medical Journal

The genetic profile of Leber congenital amaurosis in an Australian cohort

(2017) Jennifer A. Thompson et al.   Molecular Genetics & Genomic Medicine

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups

(2016) David A. Parfitt et al.   Cell Stem Cell

Clinical sequencing: is WGS the better WES?

(2016) Janine Meienberg et al.   HUMAN GENETICS

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

(2016) Monkol Lek et al.   NATURE

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease

(2016) Jamie M. Ellingford et al.   OPHTHALMOLOGY

Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing

(2016) Isabella Bernardis et al.   Biomed Research International

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

(2015) Yongwook Choi et al.   BIOINFORMATICS

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

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions

(2015) Stefan H. Lelieveld et al.   HUMAN MUTATION

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Clinical Characteristics and Current Therapies for Inherited Retinal Degenerations

(2014) J.-A. Sahel et al.   Cold Spring Harbor Perspectives in Medicine

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population

(2013) Marta Corton et al.   Orphanet Journal of Rare Diseases

Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa

(2010) Dikla Bandah-Rozenfeld et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

(2010) Frauke Coppieters et al.   HUMAN MUTATION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Leber congenital amaurosis: Clinical correlations with genotypes, gene therapy trials update, and future directions

(2009) Daniel C. Chung et al.   JOURNAL OF AAPOS

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

(2009) Prateek Kumar et al.   Nature Protocols

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

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

Leber congenital amaurosis: Genes, proteins and disease mechanisms

(2008) Anneke I. den Hollander et al.   PROGRESS IN RETINAL AND EYE RESEARCH