S
Swaroop Aradhya
Researcher at GeneDx
Publications - 106
Citations - 8258
Swaroop Aradhya is an academic researcher from GeneDx. The author has contributed to research in topics: Genetic testing & Medicine. The author has an hindex of 31, co-authored 84 publications receiving 6847 citations. Previous affiliations of Swaroop Aradhya include Human Genome Sequencing Center & Stanford University.
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Journal ArticleDOI
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).
Journal ArticleDOI
The DNA sequence of the human X chromosome
Mark T. Ross,Darren Grafham,Alison J. Coffey,Steven E. Scherer,Kirsten McLay,Donna M. Muzny,Matthias Platzer,Gareth R. Howell,Christine Burrows,Christine P. Bird,Adam Frankish,Frances L Lovell,Kevin L. Howe,Jennifer L. Ashurst,Robert S. Fulton,Ralf Sudbrak,Ralf Sudbrak,Gaiping Wen,Matthew C. Jones,Matthew E. Hurles,T. Daniel Andrews,Carol Scott,Stephen M. J. Searle,Juliane Ramser,Adam Whittaker,Rebecca Deadman,Nigel P. Carter,Sarah E. Hunt,Rui Chen,Andrew Cree,Preethi H. Gunaratne,Paul Havlak,Anne Hodgson,Michael L. Metzker,Stephen Richards,Graham Scott,David Steffen,Erica Sodergren,David A. Wheeler,Kim C. Worley,R Ainscough,K D Ambrose,M. Ali Ansari-Lari,Swaroop Aradhya,R I S Ashwell,A K Babbage,Claire L Bagguley,Andrea Ballabio,Ruby Banerjee,Gary E Barker,K F Barlow,Ian P. Barrett,Karen N Bates,David Beare,Helen Beasley,Oliver Beasley,Alfred Beck,Graeme Bethel,Karin Blechschmidt,Nicola Brady,Sarah Bray-Allen,Anne Bridgeman,Andrew Brown,Mary J. Brown,David Bonnin,Elspeth A. Bruford,Christian J. Buhay,Paula E. Burch,D C Burford,Joanne Burgess,Wayne Burrill,John Burton,Jackie Bye,C Carder,Laura Carrel,Joseph Chako,Joanne C Chapman,Dean Chavez,Ellson Y. Chen,Guan Chen,Yuan Chen,Zhijian J. Chen,Craig Chinault,Alfredo Ciccodicola,Sue Y Clark,Graham Clarke,Chris Clee,S. M. Clegg,Kerstin P. Clerc-Blankenburg,Karen Clifford,Vicky Cobley,Charlotte G. Cole,Jen S. Conquer,N Corby,Richard E Connor,Robert G. David,Joy Davies,Clay Davis,John M. Davis,Oliver Delgado,Denise R. DeShazo,Pawandeep Dhami,Yan Ding,Huyen Dinh,Steve Dodsworth,Heather R. Draper,Shannon Dugan-Rocha,Andrew Dunham,Matthew Dunn,K. James Durbin,Ireena Dutta,Tamsin Eades,Matthew Ellwood,Alexandra Emery-Cohen,Helen Errington,Kathryn L. Evans,Louisa Faulkner,Fiona Francis,John Frankland,Audrey Fraser,Petra Galgoczy,James G. R. Gilbert,Rachel Gill,Gernot Glöckner,Simon G. Gregory,Susan M. Gribble,C Griffiths,Russell J. Grocock,Yanghong Gu,Rhian Gwilliam,Cerissa Hamilton,E. Hart,Alicia Hawes,Paul Heath,Katja Heitmann,Steffen Hennig,Judith Hernandez,Bernd Hinzmann,Sarah Ho,Michael Hoffs,Phillip J Howden,Elizabeth J. Huckle,Jennifer Hume,Paul Hunt,Adrienne Hunt,Judith Isherwood,Leni S. Jacob,David W. Johnson,Sally Jones,Pieter J. de Jong,Shirin S. Joseph,Stephen Keenan,Susan H. Kelly,Joanne K Kershaw,Ziad Khan,Petra Kioschis,Sven Klages,Andrew J Knights,Anna Kosiura,Christie Kovar-Smith,Gavin K. Laird,Cordelia Langford,S Lawlor,Margaret A. Leversha,Lora Lewis,Wen Liu,Christine Lloyd,D. M. Lloyd,Hermela Loulseged,Jane E. Loveland,J Lovell,Ryan J. Lozado,Jing Lu,Rachael Lyne,Jie Ma,Manjula Maheshwari,Lucy Matthews,Jennifer McDowall,Stuart McLaren,Amanda McMurray,Patrick Meidl,Thomas Meitinger,Sarah Milne,George Miner,Shailesh L Mistry,Margaret Morgan,Sidney Morris,Ines Müller,James C. Mullikin,Ngoc Nguyen,Gabriele Nordsiek,Gerald Nyakatura,Christopher N O'Dell,Geoffery Okwuonu,Sophie Palmer,Richard Pandian,David Parker,Julia E. Parrish,Shiran Pasternak,Dina Patel,Alex V Pearce,D. Pearson,Sarah Pelan,Lesette Perez,K M Porter,Yvonne Ramsey,Kathrin Reichwald,Susan Rhodes,Kerry A Ridler,David Schlessinger,Mary G. Schueler,Harminder Sehra,Charles Shaw-Smith,Hua Shen,E Sheridan,Ratna Shownkeen,C. D. Skuce,Michelle Smith,Elizabeth C. Sotheran,Helen E. Steingruber,Charles A. Steward,Roy Storey,R Mark Swann,David Swarbreck,Paul E. Tabor,Stefan Taudien,Tineace Taylor,Brian Teague,Karen Thomas,Andrea Thorpe,Kirsten M. Timms,Alan Tracey,Steve Trevanion,A Tromans,Michele D'Urso,Daniel Verduzco,Donna Villasana,Lenee Waldron,Melanie M. Wall,Qiaoyan Wang,James T. Warren,Georgina Warry,Xuehong Wei,Anthony P. West,S. Whitehead,Mathew N Whiteley,Jane E. Wilkinson,David Willey,Gabrielle Williams,Leanne Williams,Angela Williamson,Helen Williamson,Laurens G. Wilming,Rebecca Woodmansey,Paul Wray,Jennifer Yen,Jingkun Zhang,Jianling Zhou,Huda Y. Zoghbi,Sara Zorilla,David Buck,Richard Reinhardt,Annemarie Poustka,André Rosenthal,Hans Lehrach,Alfons Meindl,Patrick Minx,LaDeana W. Hillier,Huntington F. Willard,Richard K. Wilson,Robert H. Waterston,Catherine M. Rice,M. Vaudin,Alan Coulson,David L. Nelson,George M. Weinstock,John Sulston,Richard Durbin,Tim Hubbard,Richard A. Gibbs,Stephan Beck,Jane Rogers,David R. Bentley +282 more
TL;DR: This analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination between X and Y, and the extent of subsequent degradation of the Y chromosome.
Journal ArticleDOI
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Erin Rooney Riggs,Erica F. Andersen,Erica F. Andersen,Athena M. Cherry,Sibel Kantarci,Hutton M. Kearney,Ankita Patel,Gordana Raca,Deborah I. Ritter,Sarah T. South,Erik C. Thorland,Daniel E. Pineda-Alvarez,Swaroop Aradhya,Christa Lese Martin +13 more
TL;DR: A quantitative, evidence-based scoring framework is introduced; the implementation of the five-tier classification system widely used in sequence variant classification is encouraged; and “uncoupling” the evidence- based classification of a variant from its potential implications for a particular individual is recommended.
Journal ArticleDOI
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.
A. Smahi,Gilles Courtois,Pierre Vabres,Shoji Yamaoka,S. Heuertz,Arnold Munnich,Alain Israël,Nina S. Heiss,Sabine M. Klauck,Petra Kioschis,Stefan Wiemann,Annemarie Poustka,Teresa Esposito,T. Bardaro,Fernando Gianfrancesco,Alfredo Ciccodicola,Michele D'Urso,Hayley Woffendin,T. Jakins,D. Donnai,H. Stewart,Susan Kenwrick,Swaroop Aradhya,Takanori Yamagata,Michael J. Levy,Richard A. Lewis,David L. Nelson +26 more
TL;DR: Most cases of familial incontinentia pigmenti are due to mutations of this locus and that a new genomic rearrangement accounts for 80% of new mutations, which means that NF-κB activation is defective in IP cells.
Journal ArticleDOI
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
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.