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
Application of chromosomal microarrays in the evaluation of intellectual disability/global developmental delay patients - A study from a tertiary care genetic centre in India.
Pankaj Sharma,Neerja Gupta,Madhumita Roy Chowdhury,Savita Sapra,Manju Ghosh,Sheffali Gulati,Madhulika Kabra +6 more
TL;DR: The view point that CMA is a powerful diagnostic tool in the evaluation of idiopathic ID/GDD patients irrespective of the degree of severity is re-affirmed.
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Identifying rare genetic variants in 21 highly multiplex autism families: the role of diagnosis and autistic traits
Ravi Prabhakar More,Varun Warrier,Helena Brunel,Clara Buckingham,Paula L. Smith,Carrie Allison,Rosemary Holt,Charles R Bradshaw,Simon Baron-Cohen +8 more
TL;DR: In this paper , the authors conducted whole-genome sequencing of 21 highly multiplex autism families, with at least three autistic individuals in each family, to prioritise genes associated with autism.
Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15
Miroslava Hancarova,Sarka Vejvalkova,Marie Trkova,Jana Drabova,Alzbeta Dleskova,Marketa Vlckova,Zdenek Sedlacek +6 more
TL;DR: A thorough comparison of the deletions and phenotypes indicates that multiple genes located in this region may be involved in intellectual functioning, and that some patients may show composite and more complex phenotypes due to deletions spanning both critical regions.
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Experience using a rapid assay for aneuploidy and microdeletion/microduplication detection in over 2,900 prenatal specimens.
Jill A. Rosenfeld,Morton Sa,Hummel C,Scott G. Sulpizio,McDaniel Ld,Roger A. Schultz,Beth S. Torchia,Ravnan Jb,Jay W. Ellison,Allan J. Fisher +9 more
TL;DR: A rapid BACs-on-Beads-based assay provides increased interrogation of specific chromosomal regions, while limiting VOUS identification when combined with karyotyping, which is an alternative to microarray in low-risk pregnancies.
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A comparison of tools for copy-number variation detection in germline whole exome and whole genome sequencing data
Migle Gabrielaite,Mathias H. Torp,Sergio Andreu-Sánchez,Filipe Garrett Vieira,Christina B. Pedersen,Christina B. Pedersen,Savvas Kinalis,Majbritt Busk Madsen,Christina Westmose Yde,Lars Rønn Olsen,Lars Rønn Olsen,Rasmus L. Marvig,Olga Østrup,Maria Rossing,Finn Cilius Nielsen,Ole Winther,Ole Winther,Ole Winther,Frederik Otzen Bagger,Frederik Otzen Bagger +19 more
TL;DR: In this article, the authors reviewed 50 popular CNV calling tools and included 11 tools for benchmarking in a unique reference cohort encompassing 39 whole genome sequencing (WGS) samples paired with analysis by the current clinical standard.
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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.
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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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