DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

Cantú Syndrome Is Caused by Mutations in ABCC9

(2012) Bregje W.M. van Bon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1

(2012) Estelle Lopez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects

(2012) James R. Priest et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions

(2012) Michael J. Bamshad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature

(2012) Tom B Davidson et al.   BMC Medical Genetics

Bioinformatics for personal genome interpretation

(2012) E. Capriotti et al.   BRIEFINGS IN BIOINFORMATICS

Key Principles and Clinical Applications of "Next-Generation" DNA Sequencing

(2012) J. M. Rizzo et al.   Cancer Prevention Research

Disease gene identification strategies for exome sequencing

(2012) Christian Gilissen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature

(2012) Kerstin Becker et al.   European Journal of Medical Genetics

Prader-Willi syndrome

(2012) Suzanne B. Cassidy et al.   GENETICS IN MEDICINE

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

(2012) A. V. Dharmadhikari et al.   HUMAN MOLECULAR GENETICS

Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders

(2012) Hannah Boulding et al.   HUMAN MUTATION

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

(2012) Gijs W E Santen et al.   NATURE GENETICS

Finding Disease Variants in Mendelian Disorders By Using Sequence Data: Methods and Applications

(2011) Iuliana Ionita-Laza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

(2011) Gladys Montenegro et al.   ANNALS OF NEUROLOGY

Exome sequencing: Dual role as a discovery and diagnostic tool

(2011) Chee-Seng Ku et al.   ANNALS OF NEUROLOGY

The Deciphering Developmental Disorders (DDD) study

(2011) HELEN V FIRTH et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

Characterization of copy number-stable regions in the human genome

(2011) Anna C.V. Johansson et al.   HUMAN MUTATION

Curating gene variant databases (LSDBs): Toward a universal standard

(2011) Jacopo Celli et al.   HUMAN MUTATION

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

InterPro in 2011: new developments in the family and domain prediction database

(2011) S. Hunter et al.   NUCLEIC ACIDS RESEARCH

The IntAct molecular interaction database in 2012

(2011) S. Kerrien et al.   NUCLEIC ACIDS RESEARCH

The Pfam protein families database

(2011) M. Punta et al.   NUCLEIC ACIDS RESEARCH

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Sharing data for public health: where is the vision?

(2010) Alan D Lopez   BULLETIN OF THE WORLD HEALTH ORGANIZATION

Sharing health data: good intentions are not enough

(2010) Elizabeth Pisani et al.   BULLETIN OF THE WORLD HEALTH ORGANIZATION

The Human Phenotype Ontology

(2010) PN Robinson et al.   CLINICAL GENETICS

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

(2010) Amélie Bonnefond et al.   PLoS One

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

(2009) BC Ballif et al.   CLINICAL GENETICS

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

(2009) Hartmut Engels et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation

(2009) V Malan et al.   JOURNAL OF MEDICAL GENETICS

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Array comparative genomic hybridization in global developmental delay

(2008) M.I. Shevell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

(2008) Mark I. McCarthy et al.   NATURE REVIEWS GENETICS