Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders

Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate

(2010) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

(2010) Christian Gilissen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

(2010) Sarah B. Pierce et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

(2010) Atteeq Ur Rehman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

High-Resolution Detection of Identity by Descent in Unrelated Individuals

(2010) Sharon R. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene

(2010) Yu Sun et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82

(2010) Tom Walsh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

(2010) J. Rios et al.   HUMAN MOLECULAR GENETICS

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

(2010) Emilie Lalonde et al.   HUMAN MUTATION

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

(2010) Kaya Bilgüvar et al.   NATURE

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

(2010) Peter M Krawitz et al.   NATURE GENETICS

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

(2009) Ludovica Volpi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

(2009) K. D. Pruitt et al.   GENOME RESEARCH

Lessons learnt from large-scale exon re-sequencing of the X chromosome

(2009) F. L. Raymond et al.   HUMAN MOLECULAR GENETICS

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Exome sequencing makes medical genomics a reality

(2009) Leslie G Biesecker   NATURE GENETICS

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

(2009) Prateek Kumar et al.   Nature Protocols

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evaluation of next generation sequencing platforms for population targeted sequencing studies

(2009) Olivier Harismendy et al.   GENOME BIOLOGY

Walking the Interactome for Prioritization of Candidate Disease Genes

(2008) Sebastian Köhler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic Mapping in Human Disease

(2008) D. Altshuler et al.   SCIENCE