Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability

Norrie disease: Extraocular clinical manifestations in 56 patients

(2012) Sharon E. Smith et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous

(2012) Lev Prasov et al.   HUMAN MOLECULAR GENETICS

wANNOVAR: annotating genetic variants for personal genomes via the web

(2012) Xiao Chang et al.   JOURNAL OF MEDICAL GENETICS

Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV

(2011) Nobuhiko Okamoto et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease

(2011) Noor M Ghiasvand et al.   NATURE NEUROSCIENCE

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

(2011) Katherine R Smith et al.   GENOME BIOLOGY

Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy

(2010) Konstantinos Nikopoulos et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

PERSISTENT HYPERPLASTIC PRIMARY VITREOUS IN NON-IDENTICAL TWINS

(2009) M. K. WANG et al.   ACTA OPHTHALMOLOGICA

NORRIE'S DISEASE

(2009) METTE WARBURG   ACTA OPHTHALMOLOGICA

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

TSPAN12 Regulates Retinal Vascular Development by Promoting Norrin- but Not Wnt-Induced FZD4/β-Catenin Signaling

(2009) Harald J. Junge et al.   CELL

Norrin, Frizzled-4, and Lrp5 Signaling in Endothelial Cells Controls a Genetic Program for Retinal Vascularization

(2009) Xin Ye et al.   CELL

Persistent hyperplastic primary vitreous: congenital malformation of the eye

(2009) Barkur S Shastry   CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Phenotypic Overlap of Familial Exudative Vitreoretinopathy (FEVR) with Persistent Fetal Vasculature (PFV) Caused byFZD4Mutations in two Distinct Pedigrees

(2009) Johane M. Robitaille et al.   OPHTHALMIC GENETICS

Noonan, Costello and cardio–facio–cutaneous syndromes: dysregulation of the Ras–MAPK pathway

(2008) William E. Tidyman et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE