HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing

A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews

(2011) Lina Zelinger et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SOBP Is Mutated in Syndromic and Nonsyndromic Intellectual Disability and Is Highly Expressed in the Brain Limbic System

(2010) Efrat Birk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency

(2010) Alexandre Bolze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan

(2010) MA Rafiq et al.   CLINICAL GENETICS

Frequent loss of heterozygosity in the β2-microglobulin region of chromosome 15 in primary human tumors

(2010) Isabel Maleno et al.   IMMUNOGENETICS

Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene

(2010) Regina Kropatsch et al.   MOLECULAR AND CELLULAR PROBES

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Efficient identification of novel mutations in patients with limb girdle muscular dystrophy

(2010) Steven E. Boyden et al.   NEUROGENETICS

Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations

(2010) Anna Rajab et al.   PLoS Genetics

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders

(2009) Ian M. Carr et al.   HUMAN MUTATION

IBDfinderandSNPsetter: Tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease

(2009) Ian M. Carr et al.   HUMAN MUTATION

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

Exome sequencing makes medical genomics a reality

(2009) Leslie G Biesecker   NATURE GENETICS

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

GeneDistiller—Distilling Candidate Genes from Linkage Intervals

(2008) Dominik Seelow et al.   PLoS One