Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing

Molecular findings from 537 individuals with inherited retinal disease

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

Sambamba: fast processing of NGS alignment formats

(2015) Artem Tarasov et al.   BIOINFORMATICS

Expanding the clinical, allelic and locus heterogeneity of retinal dystrophies

(2015) Nisha Patel et al.   GENETICS IN MEDICINE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Large multiallelic copy number variations in humans

(2015) Robert E Handsaker et al.   NATURE GENETICS

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing

(2015) Bruno Maranhao et al.   PLoS One

Toward better understanding of artifacts in variant calling from high-coverage samples

(2014) Heng Li   BIOINFORMATICS

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible and more sensitive for variant detection, than exome sequencing

(2014) Mark B. Consugar et al.   GENETICS IN MEDICINE

Cytoplasmic carboxypeptidase 5 regulates tubulin glutamylation and zebrafish cilia formation and function

(2014) Narendra Pathak et al.   MOLECULAR BIOLOGY OF THE CELL

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

LUMPY: a probabilistic framework for structural variant discovery

(2014) Ryan M Layer et al.   GENOME BIOLOGY

Genes and mutations causing retinitis pigmentosa

(2013) S P Daiger et al.   CLINICAL GENETICS

Cytosolic Carboxypeptidase 5 Removes α- and γ-Linked Glutamates from Tubulin

(2013) Iryna Berezniuk et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The role of primary cilia in the development and disease of the retina

(2013) Gabrielle Wheway et al.   Organogenesis

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

(2012) L. Abu-Safieh et al.   GENOME RESEARCH

Non-syndromic retinal ciliopathies: translating gene discovery into therapy

(2012) A. Estrada-Cuzcano et al.   HUMAN MOLECULAR GENETICS

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

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

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Ciliopathies: an expanding disease spectrum

(2011) Aoife M. Waters et al.   PEDIATRIC NEPHROLOGY

A Family of Protein-Deglutamylating Enzymes Associated with Neurodegeneration

(2010) Krzysztof Rogowski et al.   CELL

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The Crumbs complex: from epithelial-cell polarity to retinal degeneration

(2009) N. A. Bulgakova et al.   JOURNAL OF CELL SCIENCE

The SWISS-MODEL Repository and associated resources

(2008) F. Kiefer et al.   NUCLEIC ACIDS RESEARCH