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
436
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.
read more
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.
read more
Chat with Paper
AI Agents for this Paper
Find similar papers on Google Scholar, PubMed and Arxiv
Write a critical review of this paper
Analyze citations of this paper to find unaddressed research gaps
Citations
A Patient With De Novo 0.45 Mb Deletion of 2p16.1: The Role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 Microdeletion Syndrome
TL;DR: Based on close phenotypic similarities with six reported patients showing typical clinical features of the syndrome, it is proposed that the critical region can be narrowed down further, and that brain expressed genes can be considered candidates for the features seen in this microdeletion syndrome.
15q Duplication Syndrome and Related Disorders
Brenda M Finucane,Laina G. Lusk,Dimitrios Arkilo,Stormy J. Chamberlain,Orrin Devinsky,Scott V. Dindot,Shafali S. Jeste,Janine M. LaSalle,Lawrence T. Reiter,N. Carolyn Schanen,Sarah J. Spence,Ronald L. Thibert,Guy Calvert,Kadi Luchsinger,Edwin H. Cook +14 more
- 16 Jun 2016
TL;DR: Prenatal testing or preimplantation genetic diagnosis using chromosomal microarray (CMA) will detect the 15q interstitial duplication; however, prenatal test results cannot reliably predict the severity of the phenotype even in a pregnancy known to be at increased risk for dup15q.
Diagnostic Interpretation of Array Data Using Public Databases and Internet Sources
Nicole de Leeuw,Trijnie Dijkhuizen,Jayne Y. Hehir-Kwa,Nigel P. Carter,Lars Feuk,Helen V. Firth,Helen V. Firth,Robert M. Kuhn,David H. Ledbetter,Christa Lese Martin,Conny M. A. van Ravenswaaij-Arts,Steven W. Scherer,Soheil Shams,Steven Van Vooren,Rolf H. Sijmons,Morris A. Swertz,Ros Hastings +16 more
TL;DR: The characteristics of the most commonly used Internet databases and resources are summarized, and a general data interpretation strategy that can be used for comparative hybridization, comparative intensity, and genotype‐based array data is proposed.
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families
Virpi Leppa,Virpi Leppa,Stephanie N Kravitz,Christa Lese Martin,Joris Andrieux,Cédric Le Caignec,Dominique Martin-Coignard,Christina T. DyBuncio,Stephen Sanders,Jennifer K. Lowe,Jennifer K. Lowe,Rita M. Cantor,Daniel H. Geschwind,Daniel H. Geschwind +13 more
TL;DR: A higher burden of large, rare CNVs, including inherited events, in individuals with ASD than in their unaffected siblings is observed, but the rate of de novo events was significantly lower than in simplex families.
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.
Related Papers (5)
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
Stephen Sanders,A. Gulhan Ercan-Sencicek,Vanessa Hus,Rui Luo,Michael T. Murtha,Daniel Moreno-De-Luca,Su H. Chu,Michael P. Moreau,Abha R. Gupta,Susanne Thomson,Christopher E. Mason,Kaya Bilguvar,Patrícia B. S. Celestino-Soper,Murim Choi,Emily L. Crawford,Lea K. Davis,Nicole R. Davis Wright,Rahul M. Dhodapkar,Michael DiCola,Nicholas M. DiLullo,Thomas V. Fernandez,Vikram Fielding-Singh,Daniel O. Fishman,Stephanie Frahm,Rouben Garagaloyan,Gerald Goh,Sindhuja Kammela,Lambertus Klei,Jennifer K. Lowe,Sabata C. Lund,Anna D. McGrew,Kyle A. Meyer,William J. Moffat,John D. Murdoch,Brian J. O'Roak,Gordon T. Ober,Rebecca S. Pottenger,Melanie J. Raubeson,Youeun Song,Qi Wang,Brian L. Yaspan,Timothy W. Yu,Ilana R. Yurkiewicz,Arthur L. Beaudet,Rita M. Cantor,Martin Curland,Dorothy E. Grice,Murat Gunel,Richard P. Lifton,Shrikant Mane,Donna M. Martin,Chad A. Shaw,Michael Sheldon,Jay A. Tischfield,Christopher A. Walsh,Eric M. Morrow,David H. Ledbetter,Eric Fombonne,Catherine Lord,Christa Lese Martin,Andrew Brooks,James S. Sutcliffe,Edwin H. Cook,Daniel H. Geschwind,Kathryn Roeder,Bernie Devlin,Matthew W. State +66 more
Dalila Pinto,Alistair T. Pagnamenta,Lambertus Klei,Richard Anney,Daniele Merico,Regina Regan,Judith Conroy,Tiago R. Magalhaes,Tiago R. Magalhaes,Catarina Correia,Catarina Correia,Brett S. Abrahams,Joana Almeida,Elena Bacchelli,Gary D. Bader,Anthony J. Bailey,Gillian Baird,Agatino Battaglia,Tom Berney,Nadia Bolshakova,Sven Bölte,Patrick Bolton,Thomas Bourgeron,Sean Brennan,Jessica Brian,Susan E. Bryson,Andrew R. Carson,Guillermo Casallo,Jillian P. Casey,Brian H.Y. Chung,Lynne E Cochrane,Christina Corsello,Emily L. Crawford,Andrew Crossett,Cheryl Cytrynbaum,Geraldine Dawson,Maretha de Jonge,Richard Delorme,Irene Drmic,Eftichia Duketis,Frederico Duque,Annette Estes,Penny Farrar,Bridget A. Fernandez,Susan E. Folstein,Eric Fombonne,Christine M. Freitag,John Gilbert,Christopher Gillberg,Joseph T. Glessner,Jeremy Goldberg,Andrew Green,Jonathan Green,Stephen J. Guter,Hakon Hakonarson,Elizabeth A. Heron,Matthew Hill,Richard Holt,Jennifer L. Howe,Gillian Hughes,Vanessa Hus,Roberta Igliozzi,Cecilia Kim,Sabine M. Klauck,Alexander Kolevzon,Olena Korvatska,Vlad Kustanovich,Clara Lajonchere,Janine A. Lamb,Magdalena Laskawiec,Marion Leboyer,Ann Le Couteur,Bennett L. Leventhal,Anath C. Lionel,Anath C. Lionel,Xiao-Qing Liu,Catherine Lord,Linda Lotspeich,Sabata C. Lund,Elena Maestrini,William M. Mahoney,Carine Mantoulan,Christian R. Marshall,Helen McConachie,Christopher J. McDougle,Jane McGrath,William M. McMahon,Alison K. Merikangas,Ohsuke Migita,Nancy J. Minshew,Ghazala Mirza,Jeff Munson,Stanley F. Nelson,Carolyn Noakes,Abdul Noor,Gudrun Nygren,Guiomar Oliveira,Katerina Papanikolaou,Jeremy R. Parr,Barbara Parrini,Tara Paton,Andrew Pickles,Marion Pilorge,Joseph Piven,Chris P. Ponting,David J. Posey,Annemarie Poustka,Fritz Poustka,Aparna Prasad,Jiannis Ragoussis,Katy Renshaw,Jessica Rickaby,Wendy Roberts,Kathryn Roeder,Bernadette Rogé,Michael Rutter,Laura J. Bierut,John P. Rice,Jeff Salt,Katherine Sansom,Daisuke Sato,Ricardo Segurado,Ana Filipa Sequeira,Lili Senman,Lili Senman,Naisha Shah,Val C. Sheffield,Latha Soorya,Inês Sousa,Olaf Stein,Nuala Sykes,Vera Stoppioni,Christina Strawbridge,Raffaella Tancredi,Katherine E. Tansey,Bhooma Thiruvahindrapduram,Ann P. Thompson,Susanne Thomson,Ana Tryfon,John Tsiantis,Herman Van Engeland,John B. Vincent,Fred R. Volkmar,Simon Wallace,Kai Wang,Zhouzhi Wang,Thomas H. Wassink,Caleb Webber,Rosanna Weksberg,Kirsty Wing,Kerstin Wittemeyer,Shawn Wood,Jing Wu,Brian L. Yaspan,Danielle Zurawiecki,Lonnie Zwaigenbaum,Joseph D. Buxbaum,Rita M. Cantor,Edwin H. Cook,Hilary Coon,Michael L. Cuccaro,Bernie Devlin,Sean Ennis,Louise Gallagher,Daniel H. Geschwind,Michael Gill,Jonathan L. Haines,Joachim Hallmayer,Judith Miller,Anthony P. Monaco,John I. Nurnberger,Andrew D. Paterson,Margaret A. Pericak-Vance,Gerard D. Schellenberg,Peter Szatmari,Astrid M. Vicente,Veronica J. Vieland,Veronica J. Vieland,Ellen M. Wijsman,Stephen W. Scherer,James S. Sutcliffe,Catalina Betancur +181 more
Lauren A. Weiss,Yiping Shen,Joshua M. Korn,Joshua M. Korn,Dan E. Arking,David T. Miller,Ragnheidur Fossdal,Evald Saemundsen,Hreinn Stefansson,Todd Green,Todd Green,Orah S. Platt,Douglas M. Ruderfer,Douglas M. Ruderfer,Christopher A. Walsh,David Altshuler,David Altshuler,Aravinda Chakravarti,Aravinda Chakravarti,Rudolph E. Tanzi,Kari Stefansson,Susan L. Santangelo,James F. Gusella,James F. Gusella,Pamela Sklar,Pamela Sklar,Bai-Lin Wu,Mark J. Daly,Mark J. Daly +28 more