An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Erin B. Kaminsky,Vineith Kaul,Justin Paschall,Deanna M. Church,Brian Bunke,Dawn Kunig,Daniel Moreno-De-Luca,Andres Moreno-De-Luca,Jennifer G. Mulle,Stephen T. Warren,Gabriele Richard,John G. Compton,Amy E. Fuller,Troy J. Gliem,Shuwen Huang,Morag N. Collinson,Sarah J. Beal,Todd Ackley,Diane L. Pickering,Denae M. Golden,Emily Aston,Heidi Whitby,Shashirekha Shetty,Michael R. Rossi,M. Katharine Rudd,Sarah T. South,Arthur R. Brothman,Warren G. Sanger,Ramaswamy K. Iyer,John A. Crolla,Erik C. Thorland,Swaroop Aradhya,David H. Ledbetter,David H. Ledbetter,Christa Lese Martin +34 more
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TL;DR: This study presents the largest copy number variant case-control study to date comprising 15,749 International Standards for Cytogenomic Arrays cases and 10,118 published controls, focusing on recurrent deletions and duplications involving 14 Copy number variant regions.
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About: This article is published in Genetics in Medicine. The article was published on 01 Sep 2011. and is currently open access. The article focuses on the topics: Copy-number variation.
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Citations
DISCRIMINATOR: Assigning Cohort-Wide Provisional Pathogenicity Classifications to CNVs
TL;DR: The utility of large-scale re-analysis of CMA data is shown and the novel utility of DISCRIMINATOR is its ability to operate on a cohort-level and easily integrate updated definitions of benign and pathogenic regions of the human genome.
1
Molecular and Clinical Characterization of Syndromes Associated With Intellectual Disability
Christian Wentzel
- 01 Jan 2013
TL;DR: Intellectual disability (ID) affects approximately 1-3% of the population and is defined as having an IQ below 70 as well as a significant limitation in adaptive behavior.
Sex-specific recombination predicts parent of origin for recurrent genomic disorders
TL;DR: The results suggest that parental-origin of CNVs is largely controlled by sex-specific recombination rates, and highlight the need to consider these differences when investigating mechanisms that cause structural variation.
Seguimiento del Desarrollo Psicomotor en un Caso con Microdeleción Distal 1q21.1
Ana Isabel Cañada Ruiz
- 15 Jul 2016
TL;DR: The case of a 40-month-old child, whose alteration was detected by means of genetic studies, based on Microarray-based comparative genomic hybridization (a- CGH onwards), when he was 12 months old, was reported in this article.
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Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay
Emanuele G. Coci,Ornella Galesi,Thomas M. Morgan,Sabrina Giglio,Elsebet Ostergaard,Maurizio Elia +5 more
TL;DR: In this article , the authors analyzed a bicentric cohort of 4 individuals, comprising two siblings, which bear an isolated heterozygous deletion in long noncoding RNA AK127244 and present with nonsyndromic neurodevelopmental delay.
References
Finishing the euchromatic sequence of the human genome
Chris P. Ponting,Daniel Barker +1 more
TL;DR: The current human genome sequence (Build 35) as discussed by the authors contains 2.85 billion nucleotides interrupted by only 341 gaps and is accurate to an error rate of approximately 1 event per 100,000 bases.
Detection of large-scale variation in the human genome.
A. John Iafrate,Lars Feuk,Miguel Rivera,Miguel Rivera,Marc L. Listewnik,Patricia K. Donahoe,Ying Qi,Stephen W. Scherer,Charles Lee,Charles Lee +9 more
TL;DR: This article identified 255 loci across the human genome that contain genomic imbalances among unrelated individuals, and revealed that half of these regions overlap with genes, and many coincide with segmental duplications or gaps in human genome assembly.
Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
David T. Miller,Margaret P Adam,Margaret P Adam,Swaroop Aradhya,Leslie G. Biesecker,Arthur R. Brothman,Nigel P. Carter,Deanna M. Church,John A. Crolla,Evan E. Eichler,Charles J. Epstein,W. Andrew Faucett,Lars Feuk,Jan M. Friedman,Ada Hamosh,Laird G. Jackson,Erin B. Kaminsky,Klaas Kok,Ian D. Krantz,Robert M. Kuhn,Charles Lee,James Ostell,Carla Rosenberg,Stephen W. Scherer,Nancy B. Spinner,Dimitri J. Stavropoulos,James Tepperberg,Erik C. Thorland,Joris Vermeesch,Darrel Waggoner,Michael S. Watson,Christa Lese Martin,David H. Ledbetter +32 more
TL;DR: Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA).
Structural variation of chromosomes in autism spectrum disorder.
Christian R. Marshall,Abdul Noor,John B. Vincent,Anath C. Lionel,Lars Feuk,Jennifer Skaug,Mary Shago,Rainald Moessner,Dalila Pinto,Yan Ren,Bhooma Thiruvahindrapduram,Andreas Fiebig,Stefan Schreiber,Jan M. Friedman,Cees E.J. Ketelaars,Yvonne J. Vos,Can Ficicioglu,Susan J. Kirkpatrick,Rob Nicolson,Leon Sloman,Anne Summers,Clare A. Gibbons,Ahmad S. Teebi,David Chitayat,Rosanna Weksberg,Ann Thompson,Cathy Vardy,Vicki Crosbie,Sandra Luscombe,Rebecca Baatjes,Lonnie Zwaigenbaum,Wendy Roberts,Bridget A. Fernandez,Peter Szatmari,Stephen W. Scherer +34 more
TL;DR: The results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility.
1.9K
Trends in the prevalence of developmental disabilities in US children, 1997-2008.
Coleen A. Boyle,Sheree L. Boulet,Laura A. Schieve,Robin A Cohen,Stephen J. Blumberg,Marshalyn Yeargin-Allsopp,Susanna N. Visser,Michael D. Kogan +7 more
TL;DR: Autism, attention deficit hyperactivity disorder, and other developmental delays increased, whereas hearing loss showed a significant decline, and trends were found in all of the sociodemographic subgroups, except for autism in non-Hispanic black children.
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