Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
Published 2016 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
Authors
Keywords
-
Journal
MOLECULAR PSYCHIATRY
Volume 22, Issue 4, Pages 615-624
Publisher
Springer Nature
Online
2016-07-19
DOI
10.1038/mp.2016.113
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- 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
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search