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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Genome-Wide Arrays: Quality Criteria and Platforms to be Used in Routine Diagnostics
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Association Testing Of Copy Number Variants In Schizophrenia And Autism Spectrum Disorders
Bernard J. Crespi,Helen J Crofts +1 more
TL;DR: It is suggested that relatively severe premorbidity to CNV-associated schizophrenia in children may sometimes be diagnosed as autism spectrum disorder, and the degree of strongly statistically supported overlap in specific CNVs at these loci remains limited.
The introduction of arrays in prenatal diagnosis: a special challenge.
Annalisa Vetro,Katelijne Bouman,Ros Hastings,Dominic J. McMullan,Joris Vermeesch,Konstantin Miller,Birgit Sikkema-Raddatz,David H. Ledbetter,Orsetta Zuffardi,Conny M. A. van Ravenswaaij-Arts +9 more
TL;DR: Recommendations are given on how to develop practical guidelines that can be implemented in the local setting and that are consistent with the emerging international consensus on the introduction of genome‐wide arrays into routine prenatal diagnosis.
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TL;DR: The ramifications of the growing body of information on CCRs for clinical and experimental genetics and future treatment modalities are briefly illustrated with 2 cases, one of which suggests KDM4C(JMJD2C) as a novel candidate gene for mental retardation.
Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs.
Malgorzata I. Srebniak,Karin E. M. Diderich,Marieke Joosten,Lutgarde C.P. Govaerts,Jeroen Knijnenburg,Femke A. T. de Vries,Marjan Boter,Debora Lont,Maarten F. C. M. Knapen,Merel C. de Wit,Attie T.J.I. Go,Robert-Jan H. Galjaard,Diane Van Opstal +12 more
TL;DR: The results confirm that a genomic array should be the preferred first-tier technique in fetuses with ultrasound anomalies, and it seems that UDs occur at a comparable frequency among microscopic and submicroscopic pathogenic findings.
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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.
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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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