High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

(2015) Anas M. Alazami et al.   Cell Reports

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

(2014) Chandree L. Beaulieu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Rising Titan:TTNReview and Mutation Update

(2014) Claire Chauveau et al.   HUMAN MUTATION

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

Activation of Neuronal Gene Expression by the JMJD3 Demethylase Is Required for Postnatal and Adult Brain Neurogenesis

(2014) Dae Hwi Park et al.   Cell Reports

Whole-Exome Sequencing Identifies Mutated C12orf57 in Recessive Corpus Callosum Hypoplasia

(2013) Naiara Akizu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia

(2013) Fatema Zahrani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

(2013) Elizabeth Stevens et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations inWNT10Aare frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

(2013) Julie Plaisancié et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Practices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications

(2013) Seema M. Jamal et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network

(2013) Suleyman Gulsuner et al.   CELL

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency

(2013) Ranad Shaheen et al.   JOURNAL OF MEDICAL GENETICS

Disease-targeted sequencing: a cornerstone in the clinic

(2013) Heidi L. Rehm   NATURE REVIEWS GENETICS

Molecular Profiling of Synaptic Vesicle Docking Sites Reveals Novel Proteins but Few Differences between Glutamatergic and GABAergic Synapses

(2013) Janina Boyken et al.   NEURON

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

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

Heavy and light roles: myosin in the morphogenesis of the heart

(2012) Jennifer England et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Apneic crises: A clue for MECP2 testing in severe neonatal hypotonia-respiratory failure

(2012) Raffaele Falsaperla et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

A homozygous missense mutation inHERC2associated with global developmental delay and autism spectrum disorder

(2012) Erik G. Puffenberger et al.   HUMAN MUTATION

Mutation of HERC2 causes developmental delay with Angelman-like features

(2012) Gaurav V Harlalka et al.   JOURNAL OF MEDICAL GENETICS

X-exome sequencing identifies aHDAC8variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

(2012) Magdalena Harakalova et al.   JOURNAL OF MEDICAL GENETICS

Collagen XIV is important for growth and structural integrity of the myocardium

(2012) Ge Tao et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections

(2012) Ushanthine Kathiravel et al.   MOLECULAR AND CELLULAR PROBES

Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations

(2012) Audrey Boutron et al.   MOLECULAR GENETICS AND METABOLISM

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

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

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

(2012) Isabelle Audo et al.   Orphanet Journal of Rare Diseases

Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism

(2012) Maria H. Chahrour et al.   PLoS Genetics

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole exome and whole genome sequencing

(2011) David Bick et al.   CURRENT OPINION IN PEDIATRICS

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

DIA1R Is an X-Linked Gene Related to Deleted In Autism-1

(2011) Azhari Aziz et al.   PLoS One

Characterization of the Deleted in Autism 1 Protein Family: Implications for Studying Cognitive Disorders

(2011) Azhari Aziz et al.   PLoS One

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

(2010) Valérie Malan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity

(2010) C Jung et al.   CLINICAL GENETICS

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

(2010) Jean Muller et al.   HUMAN GENETICS

Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

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

Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening

(2010) Ute Spiekerkoetter   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2010) Charlotte M Niemeyer et al.   NATURE GENETICS

First case of dizygous twins with X-linked α-thalassemia/mental retardation syndrome showing wide clinical variability

(2010) Piero Pavone et al.   PEDIATRICS INTERNATIONAL

Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine

(2009) Tracy Tucker et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in theMPLgene

(2008) El-Harith Abdelghaffar El-Harith et al.   BRITISH JOURNAL OF HAEMATOLOGY

Genotype–phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene

(2008) Dani Bercovich et al.   JOURNAL OF HUMAN GENETICS