Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

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

Europeans have a higher proportion of high-frequency deleterious variants than Africans

(2015) Sankar Subramanian   HUMAN GENETICS

DENND5A regulates NGF-induced neurite outgrowth in PC12 cells and dendrite patterning of primary hippocampal neurons

(2015) Chanshuai Han et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Copy Number Variations and Cognitive Phenotypes in Unselected Populations

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

Genetic studies in intellectual disability and related disorders

(2015) Lisenka E. L. M. Vissers et al.   NATURE REVIEWS GENETICS

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

(2015) Ender Karaca et al.   NEURON

Human knockout research: new horizons and opportunities

(2015) Fowzan S. Alkuraya   TRENDS IN GENETICS

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

Natural human knockouts and the era of genotype to phenotype

(2015) Fowzan S Alkuraya   Genome Medicine

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

(2015)   GENOME BIOLOGY

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

(2014) Farzaneh Larti et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population

(2014) Sarah M. Al-Qattan et al.   GENETICS IN MEDICINE

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

Expression profile of neurotransmitter receptor and regulatory genes in the prefrontal cortex of spontaneously hypertensive rats: Relevance to neuropsychiatric disorders

(2014) Marcos Leite Santoro et al.   PSYCHIATRY RESEARCH

FOXP1mutations cause intellectual disability and a recognizable phenotype

(2013) Anna K. Le Fevre et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

(2013) Fowzan S. Alkuraya   HUMAN GENETICS

mSYD1A, a Mammalian Synapse-Defective-1 Protein, Regulates Synaptogenic Signaling and Vesicle Docking

(2013) Corinna Wentzel et al.   NEURON

Intellectual disability associated with a homozygous missense mutation in THOC6

(2013) Chandree L Beaulieu et al.   Orphanet Journal of Rare Diseases

Cadherin-11 Regulates Motility in Normal Cortical Neural Precursors and Glioblastoma

(2013) Jessica D. Schulte et al.   PLoS One

Clinical application of exome sequencing in undiagnosed genetic conditions

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

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

(2012) Anita Rauch et al.   LANCET

Cooperation of Syd-1 with Neurexin synchronizes pre- with postsynaptic assembly

(2012) David Owald et al.   NATURE NEUROSCIENCE

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

(2011) Hutton M Kearney et al.   GENETICS IN MEDICINE

Requirement for Plk2 in Orchestrated Ras and Rap Signaling, Homeostatic Structural Plasticity, and Memory

(2011) Kea Joo Lee et al.   NEURON

InterPro in 2011: new developments in the family and domain prediction database

(2011) S. Hunter et al.   NUCLEIC ACIDS RESEARCH

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

A brain-derived MeCP2 complex supports a role for MeCP2 in RNA processing

(2010) Steven W. Long et al.   BIOSCIENCE REPORTS

Autozygome decoded

(2010) Fowzan S. Alkuraya   GENETICS IN MEDICINE

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation

(2009) P. Paesold-Burda et al.   HUMAN MOLECULAR GENETICS

Slc39a14 Gene Encodes ZIP14, A Metal/Bicarbonate Symporter: Similarities to the ZIP8 Transporter

(2008) K. Girijashanker et al.   MOLECULAR PHARMACOLOGY