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

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

(2014) Sébastien Jacquemont et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novo mutations in schizophrenia implicate synaptic networks

(2014) Menachem Fromer et al.   NATURE

ZMYND11 links histone H3.3K36me3 to transcription elongation and tumour suppression

(2014) Hong Wen et al.   NATURE

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang 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

Investigation ofNRXN1deletions: Clinical and molecular characterization

(2013) Mindy Preston Dabell 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

Further delineation of the SATB2 phenotype

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

Clinical Significance of De Novo and Inherited Copy-Number Variation

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

Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

(2013) Andrey Shuvarikov et al.   HUMAN MUTATION

CNVs conferring risk of autism or schizophrenia affect cognition in controls

(2013) Hreinn Stefansson et al.   NATURE

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

De novo mutations in histone-modifying genes in congenital heart disease

(2013) Samir Zaidi et al.   NATURE

Somatic SETBP1 mutations in myeloid malignancies

(2013) Hideki Makishima et al.   NATURE GENETICS

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

(2013) Alex R. Paciorkowski et al.   NEUROGENETICS

Structural and Functional Analysis of the DEAF-1 and BS69 MYND Domains

(2013) Fatiha Kateb et al.   PLoS One

A rare 3q13.31 microdeletion including GAP43 and LSAMP genes

(2013) Stefania Gimelli et al.   Molecular Cytogenetics

Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

(2012) Cheryl DeScipio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

12p13 rearrangements: 6 Mb deletion responsible for ID/MCA and reciprocal duplication without clinical responsibility

(2012) Irene Madrigal et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment

(2012) Giuseppina Marseglia et al.   European Journal of Medical Genetics

Estimates of penetrance for recurrent pathogenic copy-number variations

(2012) Jill A. Rosenfeld 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

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

(2012) D Moreno-De-Luca et al.   MOLECULAR PSYCHIATRY

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Recurrent SETBP1 mutations in atypical chronic myeloid leukemia

(2012) Rocco Piazza et al.   NATURE GENETICS

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

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

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

(2012) David A Koolen et al.   NATURE GENETICS

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly

(2011) BWM van Bon et al.   CLINICAL GENETICS

The phenotype of recurrent 10q22q23 deletions and duplications

(2011) Bregje W M van Bon et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

(2011) Paweł Stankiewicz et al.   HUMAN MUTATION

De novo copy number variants associated with intellectual disability have a paternal origin and age bias

(2011) J. Y. Hehir-Kwa et al.   JOURNAL OF MEDICAL GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2

(2010) S Alliman et al.   CLINICAL GENETICS

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

(2010) Angela L Duker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome

(2010) I. Filges et al.   JOURNAL OF MEDICAL GENETICS

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

(2010) Sabine Endele et al.   NATURE GENETICS

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

(2010) Gerald D. Fischbach et al.   NEURON

BS69 undergoes SUMO modification and plays an inhibitory role in muscle and neuronal differentiation

(2009) Bo Yu et al.   EXPERIMENTAL CELL RESEARCH

Segmental duplications mediate novel, clinically relevant chromosome rearrangements

(2009) M. Katharine Rudd et al.   HUMAN MOLECULAR GENETICS

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

(2009) N. Le Meur et al.   JOURNAL OF MEDICAL GENETICS

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

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

A catalog of SCN1A variants

(2008) Christoph Lossin   BRAIN & DEVELOPMENT

Outlier detection for skewed data

(2008) Mia Hubert et al.   JOURNAL OF CHEMOMETRICS