Genetic Basis of Intellectual Disability

Prevalence of Autism among Adolescents with Intellectual Disabilities

(2017) Susan E Bryson et al.   CANADIAN JOURNAL OF PSYCHIATRY-REVUE CANADIENNE DE PSYCHIATRIE

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

(2012) Herbert A. Lubs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

(2012) Dheeraj Malhotra et al.   CELL

Mutations inDYNC1H1cause severe intellectual disability with neuronal migration defects

(2012) Marjolein H Willemsen et al.   JOURNAL OF MEDICAL GENETICS

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

(2012) Marcella Zollino 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

Genomics, Intellectual Disability, and Autism

(2012) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

What is complex about complex disorders?

(2012) Kevin J Mitchell   GENOME BIOLOGY

ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

(2011) Hao Hu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

(2011) Michael N. Weedon et al.   AMERICAN JOURNAL OF HUMAN 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

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

De novo paradigm: the ultimate answer to the paradox in mental retardation?

(2011) K Huang   CLINICAL GENETICS

Synapse development in health and disease

(2011) Jan Elizabeth Melom et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

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

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

(2011) Blake C. Ballif et al.   HUMAN GENETICS

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

(2011) C. P. Schaaf et al.   HUMAN MOLECULAR GENETICS

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

High Frequencies of De Novo CNVs in Bipolar Disorder and Schizophrenia

(2011) Dheeraj Malhotra et al.   NEURON

Whole-exome sequencing for finding de novo mutations in sporadic mental retardation

(2011) Peter N Robinson   GENOME BIOLOGY

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

Fruit flies and intellectual disability

(2010) Francois V. Bolduc et al.   FLY

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots

(2010) Andreas Walter Kuss et al.   HUMAN GENETICS

The genetic basis of non-syndromic intellectual disability: a review

(2010) Liana Kaufman et al.   Journal of Neurodevelopmental Disorders

New mutations and intellectual function

(2010) James R Lupski   NATURE GENETICS

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Neurogenetics: Advancing the “Next-Generation” of Brain Research

(2010) Huda Y. Zoghbi et al.   NEURON

Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA

(2009) Bradford Coffee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation

(2009) Audrey Guilmatre et al.   ARCHIVES OF GENERAL PSYCHIATRY

Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

(2009) Ron Hochstenbach et al.   European Journal of Medical Genetics

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

(2009) L. E. L. M. Vissers et al.   JOURNAL OF MEDICAL GENETICS

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders

(2009) Jonathan Sebat et al.   TRENDS IN GENETICS

Primary microcephaly: do all roads lead to Rome?

(2009) Gemma K. Thornton et al.   TRENDS IN GENETICS

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE