Identification of novel candidate disease genes from de novo exonic copy number variants

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

(2017) Jing Zhang et al.   HUMAN GENETICS

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

(2017) Asbjørg Stray-Pedersen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Lessons learned from additional research analyses of unsolved clinical exome cases

(2017) Mohammad K. Eldomery et al.   Genome Medicine

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability

(2017) Christina Grau et al.   PLoS One

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

(2016) Seema R. Lalani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

(2016) Anna Lindstrand et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

(2016) Laura S. Kremer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

(2016) Wu-Lin Charng et al.   BMC Medical Genomics

Clinical genomics: from a truly personal genome viewpoint

(2016) James R. Lupski   HUMAN GENETICS

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

(2016) Nuria C. Bramswig et al.   HUMAN GENETICS

De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux

(2016) Atsushi Fujita et al.   JOURNAL OF HUMAN GENETICS

A commentary on de novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux

(2016) Rie Takai et al.   JOURNAL OF HUMAN GENETICS

Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants inNONO

(2016) Daryl A Scott et al.   JOURNAL OF MEDICAL GENETICS

Thalamic reticular impairment underlies attention deficit in Ptchd1Y/− mice

(2016) Michael F. Wells et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder

(2016) Chia-Lin Yin et al.   Molecular Autism

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome

(2015) Bo Yuan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MEIS2involvement in cardiac development, cleft palate, and intellectual disability

(2015) Jacoba J. Louw et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Meis2 is essential for cranial and cardiac neural crest development

(2015) Ondrej Machon et al.   BMC DEVELOPMENTAL BIOLOGY

A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development

(2015) Michael S. Nahorski et al.   BRAIN

Extending the phenotypic spectrum ofRBFOX1deletions: Sporadic focal epilepsy

(2015) Dennis Lal et al.   EPILEPSIA

Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts

(2015) Federica Conte et al.   HUMAN GENETICS

Cognitive Phenotypes and Genomic Copy Number Variations

(2015) James R. Lupski   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Copy Number Variations and Cognitive Phenotypes in Unselected Populations

(2015) Katrin Männik et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

MST kinases in development and disease

(2015) Barry J. Thompson et al.   JOURNAL OF CELL BIOLOGY

Copy number variation in bipolar disorder

(2015) E K Green et al.   MOLECULAR PSYCHIATRY

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

(2015) Ender Karaca et al.   NEURON

Secondary findings and carrier test frequencies in a large multiethnic sample

(2015) Tomasz Gambin et al.   Genome Medicine

The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

(2014) Philip M. Boone et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Haploinsufficiency ofMEIS2is associated with orofacial clefting and learning disability

(2014) Stefan Johansson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

(2014) Shinya Yamamoto et al.   CELL

Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations inIL7Rdetected by tandem whole exome sequencing and chromosomal microarray

(2014) D. K. Bayer et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Phenotypic spectrum associated withPTCHD1deletions and truncating mutations includes intellectual disability and autism spectrum disorder

(2014) A. Chaudhry et al.   CLINICAL GENETICS

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

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

Refining analyses of copy number variation identifies specific genes associated with developmental delay

(2014) Bradley P Coe et al.   NATURE GENETICS

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

(2013) Santhosh Girirajan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evidence for replicative mechanism in aCHD7rearrangement in a patient with CHARGE syndrome

(2013) Matteo Vatta et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includesTBR1,TANK, andPSMD14

(2013) Lindsay C. Burrage et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis ofEFNB2in patients with anorectal malformations

(2013) Gabriel C. Dworschak et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples

(2013) Elena Vallespín et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

(2013) Joanna Wiszniewska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes

(2013) Tracy Tucker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features

(2013) Agatino Battaglia et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

(2013) P. Dittwald et al.   GENOME RESEARCH

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

(2013) P. M. Boone et al.   GENOME RESEARCH

Clinical Significance of De Novo and Inherited Copy-Number Variation

(2013) Anneke T. Vulto-van Silfhout et al.   HUMAN MUTATION

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

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

SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)

(2013) Brett S Abrahams et al.   Molecular Autism

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

(2012) Barbara Wiśniowiecka-Kowalnik et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

(2012) Sandesh C S Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

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

IntragenicCAMTA1rearrangements cause non-progressive congenital ataxia with or without intellectual disability

(2012) Julien Thevenon et al.   JOURNAL OF MEDICAL GENETICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

(2011) Patricia B.S. Celestino-Soper et al.   HUMAN MOLECULAR GENETICS

Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays

(2011) Damien L. Bruno et al.   HUMAN MUTATION

Arginine and Glutamate-rich 1 (ARGLU1) Interacts with Mediator Subunit 1 (MED1) and Is Required for Estrogen Receptor-mediated Gene Transcription and Breast Cancer Cell Growth

(2011) Dingxiao Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability

(2010) Annabel C. Whibley et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

(2010) Feng Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Further evidence for the possible role ofMEIS2in the development of cleft palate and cardiac septum

(2010) Moira A. Crowley et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism

(2010) I Filges et al.   CLINICAL GENETICS

Spatiotemporal Distribution of PAX6 and MEIS2 Expression and Total Cell Numbers in the Ganglionic Eminence in the Early Developing Human Forebrain

(2010) Karen B. Larsen et al.   DEVELOPMENTAL NEUROSCIENCE

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

New mutations and intellectual function

(2010) James R Lupski   NATURE GENETICS

Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

(2010) A. Noor et al.   Science Translational Medicine

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

Crucial Role for Mst1 and Mst2 Kinases in Early Embryonic Development of the Mouse

(2009) S. Oh et al.   MOLECULAR AND CELLULAR BIOLOGY

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

(2009) Feng Zhang et al.   NATURE GENETICS

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Natural Selection on Genes that Underlie Human Disease Susceptibility

(2008) Ran Blekhman et al.   CURRENT BIOLOGY

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE