Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

(2012) Lina Basel-Vanagaite et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Pablo Cingolani et al.   FLY

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

(2010) Simone Martinelli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Syndromes of the First and Second Branchial Arches, Part 2: Syndromes

(2010) J.M. Johnson et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation

(2010) L. E. Figuera et al.   CLINICAL GENETICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia

(2010) B. Perez et al.   JOURNAL OF MEDICAL GENETICS

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

(2010) Charlotte M Niemeyer et al.   NATURE GENETICS

Syndromes of the first and second pharyngeal arches: A review

(2009) Maria Rita Passos-Bueno et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS