The clinical significance of small copy number variants in neurodevelopmental disorders

A de novo convergence of autism genetics and molecular neuroscience

(2014) Niklas Krumm et al.   TRENDS IN NEUROSCIENCES

Transmission Disequilibrium of Small CNVs in Simplex Autism

(2013) Niklas Krumm et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of Small Exonic CNV from Whole-Exome Sequence Data and Application to Autism Spectrum Disorder

(2013) Christopher S. Poultney et al.   AMERICAN JOURNAL OF HUMAN 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

Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: First description of patients without cystinuria

(2013) Deborah Bartholdi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rare copy number variation in cerebral palsy

(2013) Gai McMichael et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

(2013) Caroline Nava et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy

(2013) Arjan PM de Brouwer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

(2013) Reza Asadollahi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Further delineation of the SATB2 phenotype

(2013) Dennis Döcker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing

(2013) Joep de Ligt et al.   HUMAN MUTATION

Acyl Coenzyme A Thioesterase 7 Regulates Neuronal Fatty Acid Metabolism To Prevent Neurotoxicity

(2013) Jessica M. Ellis et al.   MOLECULAR AND CELLULAR BIOLOGY

CNVs conferring risk of autism or schizophrenia affect cognition in controls

(2013) Hreinn Stefansson et al.   NATURE

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

(2012) M Shoukier et al.   CLINICAL GENETICS

Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

(2012) Swaroop Aradhya et al.   GENETICS IN MEDICINE

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

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

(2012)   NATURE

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

The structural basis for the oligomerization of the N-terminal domain of SATB1

(2012) Zheng Wang et al.   NUCLEIC ACIDS RESEARCH

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25

(2011) Deepika D'Cunha Burkardt et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

(2011) Fady M. Mikhail et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The causality of de novo copy number variants is overestimated

(2011) Joris R Vermeesch et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Phenotypic spectrum associated with CASK loss-of-function mutations

(2011) U. Moog et al.   JOURNAL OF MEDICAL GENETICS

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

(2011) Alexander Hoischen et al.   NATURE GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Overlapping Role of Dynamin Isoforms in Synaptic Vesicle Endocytosis

(2011) Andrea Raimondi et al.   NEURON

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

Genetics of Early Onset Cognitive Impairment

(2010) Hans Hilger Ropers   Annual Review of Genomics and Human Genetics

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

(2010) Christèle Dubourg et al.   European Journal of Medical Genetics

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

Functional and structural properties of mammalian acyl-coenzyme A thioesterases

(2010) Brenda Kirkby et al.   PROGRESS IN LIPID RESEARCH

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

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

Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience

(2009) Karen Buysse et al.   European Journal of Medical Genetics

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

δ-Catenin Is Required for the Maintenance of Neural Structure and Function in Mature Cortex In Vivo

(2009) Cheryl Matter et al.   NEURON

Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

(2009) Jill A. Rosenfeld et al.   PLoS One

Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients

(2008) Terry Vrijenhoek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia

(2008) Eden V Haverfield et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Satb2 Regulates Callosal Projection Neuron Identity in the Developing Cerebral Cortex

(2008) Elizabeth A. Alcamo et al.   NEURON