Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar

Mutations in WNT1 are a cause of osteogenesis imperfecta

(2013) Somayyeh Fahiminiya et al.   JOURNAL OF MEDICAL GENETICS

ARHGDIA: a novel gene implicated in nephrotic syndrome

(2013) Indra Rani Gupta et al.   JOURNAL OF MEDICAL GENETICS

Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

(2012) Muzammil Ahmad Khan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

(2012) Lia Abbasi-Moheb et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel and de novo PHEX mutations in patients with hypophosphatemic rickets

(2012) Erdem Durmaz et al.   BONE

Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets

(2012) Signe S Beck-Nielsen et al.   JOURNAL OF HUMAN GENETICS

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

(2012) Bahareh Rabbani et al.   JOURNAL OF HUMAN GENETICS

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

(2012) Donna M McDonald-McGinn et al.   JOURNAL OF MEDICAL GENETICS

Whole exome sequencing identifies a splicing mutation inNSUN2as a cause of a Dubowitz-like syndrome

(2012) Fernando Jose Martinez et al.   JOURNAL OF MEDICAL GENETICS

Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencing

(2012) Jaeseung C. Kim et al.   MOLECULAR GENETICS AND METABOLISM

Widespread occurrence of 5-methylcytosine in human coding and non-coding RNA

(2012) Jeffrey E. Squires et al.   NUCLEIC ACIDS RESEARCH

What can exome sequencing do for you?

(2011) J. Majewski et al.   JOURNAL OF MEDICAL GENETICS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

The RNA–Methyltransferase Misu (NSun2) Poises Epidermal Stem Cells to Differentiate

(2011) Sandra Blanco et al.   PLoS 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

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

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

PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets

(2009) Céline Gaucher et al.   HUMAN GENETICS

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

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

(2009) Prateek Kumar et al.   Nature Protocols

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine