Swaroop Aradhya

Swaroop Aradhya

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Swaroop Aradhya

Swaroop Aradhya

Publications by authors named "Swaroop Aradhya"

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39Publications

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Secondary findings on virtual panels: opportunities, challenges, and potential for preventive medicine.

Genet Med 2019 05 24;21(5):1250-1251. Epub 2018 Sep 24.

Invitae, San Francisco, CA, USA.

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http://dx.doi.org/10.1038/s41436-018-0302-3DOI Listing
May 2019

Genetics in mainstream medicine: Finally within grasp to influence healthcare globally.

Mol Genet Genomic Med 2018 May 28. Epub 2018 May 28.

Invitae, San Francisco, California.

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http://dx.doi.org/10.1002/mgg3.415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081234PMC
May 2018

Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings.

Am J Obstet Gynecol 2015 Aug 3;213(2):214.e1-5. Epub 2015 Apr 3.

Department of Pathology, Stanford University School of Medicine, Palo Alto, CA.

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http://dx.doi.org/10.1016/j.ajog.2015.04.001DOI Listing
August 2015

A novel variant in GABRB2 associated with intellectual disability and epilepsy.

Am J Med Genet A 2014 Nov 13;164A(11):2914-21. Epub 2014 Aug 13.

Hugo W. Moser Research Institute at Kennedy Krieger Institute, Baltimore, Maryland; Departments of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.36714DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205182PMC
November 2014

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Eur J Hum Genet 2014 Jan 1;22(1):57-63. Epub 2013 May 1.

1] Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [2] Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [3] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/ejhg.2013.67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865402PMC
January 2014

Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers.

Am J Med Genet A 2013 Aug 4;161A(8):2105-7. Epub 2013 Jul 4.

Department of Pediatrics, Division of Endocrinology, LSU Health Sciences Center and Children's Hospital, New Orleans, LA 70118, USA.

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http://dx.doi.org/10.1002/ajmg.a.36031DOI Listing
August 2013

Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.

Am J Med Genet A 2013 Apr 12;161A(4):835-40. Epub 2013 Mar 12.

Genetics Department, Akron Children's Hospital, Akron, OH 44308-1062, USA.

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http://dx.doi.org/10.1002/ajmg.a.35739DOI Listing
April 2013

A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity.

Genet Med 2013 Jan 30;15(1):3-13. Epub 2012 Aug 30.

Medical Genetics and Genomics Laboratory, Kaiser Permanente Southern California, Los Angeles, California, USA.

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http://dx.doi.org/10.1038/gim.2012.78DOI Listing
January 2013

RUNX2 quadruplication: additional evidence toward a new form of syndromic craniosynostosis.

J Craniofac Surg 2013 Jan;24(1):126-9

Department of Surgery, and †Genetics; ‡Pediatrics, Comer Children's Hospital, University of Chicago Medical Center, Chicago, IL 60637, USA.

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http://dx.doi.org/10.1097/SCS.0b013e31826686d3DOI Listing
January 2013

Deletion of filamin A in two female patients with periventricular nodular heterotopia.

Am J Med Genet A 2012 Jun 20;158A(6):1512-6. Epub 2012 Apr 20.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35409DOI Listing
June 2012

A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism.

Eur J Med Genet 2012 Jun 2;55(6-7):437-40. Epub 2012 Apr 2.

Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Iceland, Reykjavik, Iceland.

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http://linkinghub.elsevier.com/retrieve/pii/S176972121200082
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http://dx.doi.org/10.1016/j.ejmg.2012.03.001DOI Listing
June 2012

A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features.

Am J Med Genet A 2011 Oct;155A(10):2538-42

Department of Pediatrics, McGill University, Montreal, Quebec, Canada.

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October 2011

Mutations in the calcium-related gene IL1RAPL1 are associated with autism.

Hum Mol Genet 2008 Dec 18;17(24):3965-74. Epub 2008 Sep 18.

Centre for Excellence in Neuromics, CHUM Research Center and Department of Medicine, University of Montreal, Montreal, QC, Canada H2L 4M1.

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http://dx.doi.org/10.1093/hmg/ddn300DOI Listing
December 2008

Genetic analysis of attractin homologs.

Genesis 2007 Dec;45(12):744-56

Department of Biomedical Sciences, Cornell University, Ithaca, New York 14853, USA.

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http://dx.doi.org/10.1002/dvg.20351DOI Listing
December 2007

Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs.

Genet Med 2007 Sep;9(9):553-9

Department of Pathology, Stanford University School of Medicine, Palo Alto, California, USA.

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http://dx.doi.org/10.1097GIM.0b013e318149e354DOI Listing
September 2007

Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features.

Am J Med Genet A 2007 Jul;143A(13):1431-41

Department of Pathology, Stanford University School of Medicine, Stanford, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.31773DOI Listing
July 2007

Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.

Am J Med Genet A 2006 Jun;140(12):1267-73

Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California 94305-5208, USA.

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http://dx.doi.org/10.1002/ajmg.a.31262DOI Listing
June 2006

A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis.

J Invest Dermatol 2006 May;126(5):1013-6

Departments of Genetics, Stanford University School of Medicine, Beckman Center B281, Stanford, CA 94305-5323, USA.

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http://dx.doi.org/10.1038/sj.jid.5700241DOI Listing
May 2006

The DNA sequence of the human X chromosome.

Authors:
Mark T Ross Darren V Grafham Alison J Coffey Steven Scherer Kirsten McLay Donna 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 Gaiping Wen Matthew C Jones Matthew E Hurles T Daniel Andrews Carol E Scott Stephen Searle Juliane Ramser Adam Whittaker Rebecca Deadman Nigel P Carter Sarah E Hunt Rui Chen Andrew Cree Preethi Gunaratne Paul Havlak Anne Hodgson Michael L Metzker Stephen Richards Graham Scott David Steffen Erica Sodergren David A Wheeler Kim C Worley Rachael Ainscough Kerrie D Ambrose M Ali Ansari-Lari Swaroop Aradhya Robert I S Ashwell Anne K Babbage Claire L Bagguley Andrea Ballabio Ruby Banerjee Gary E Barker Karen F Barlow Ian P Barrett Karen N Bates David M Beare Helen Beasley Oliver Beasley Alfred Beck Graeme Bethel Karin Blechschmidt Nicola Brady Sarah Bray-Allen Anne M Bridgeman Andrew J Brown Mary J Brown David Bonnin Elspeth A Bruford Christian Buhay Paula Burch Deborah Burford Joanne Burgess Wayne Burrill John Burton Jackie M Bye Carol Carder Laura Carrel Joseph Chako Joanne C Chapman Dean Chavez Ellson Chen Guan Chen Yuan Chen Zhijian Chen Craig Chinault Alfredo Ciccodicola Sue Y Clark Graham Clarke Chris M Clee Sheila Clegg Kerstin Clerc-Blankenburg Karen Clifford Vicky Cobley Charlotte G Cole Jen S Conquer Nicole Corby Richard E Connor Robert David Joy Davies Clay Davis John Davis Oliver Delgado Denise Deshazo Pawandeep Dhami Yan Ding Huyen Dinh Steve Dodsworth Heather 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 E Fraser Petra Galgoczy James Gilbert Rachel Gill Gernot Glöckner Simon G Gregory Susan Gribble Coline Griffiths Russell Grocock Yanghong Gu Rhian Gwilliam Cerissa Hamilton Elizabeth A Hart Alicia Hawes Paul D Heath Katja Heitmann Steffen Hennig Judith Hernandez Bernd Hinzmann Sarah Ho Michael Hoffs Phillip J Howden Elizabeth J Huckle Jennifer Hume Paul J Hunt Adrienne R Hunt Judith Isherwood Leni Jacob David Johnson Sally Jones Pieter J de Jong Shirin S Joseph Stephen Keenan Susan Kelly Joanne K Kershaw Ziad Khan Petra Kioschis Sven Klages Andrew J Knights Anna Kosiura Christie Kovar-Smith Gavin K Laird Cordelia Langford Stephanie Lawlor Margaret Leversha Lora Lewis Wen Liu Christine Lloyd David M Lloyd Hermela Loulseged Jane E Loveland Jamieson D Lovell Ryan Lozado Jing Lu Rachael Lyne Jie Ma Manjula Maheshwari Lucy H 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 Parrish Shiran Pasternak Dina Patel Alex V Pearce Danita M Pearson Sarah E Pelan Lesette Perez Keith M Porter Yvonne Ramsey Kathrin Reichwald Susan Rhodes Kerry A Ridler David Schlessinger Mary G Schueler Harminder K Sehra Charles Shaw-Smith Hua Shen Elizabeth M Sheridan Ratna Shownkeen Carl D Skuce Michelle L 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 Timms Alan Tracey Steve Trevanion Anthony C Tromans Michele d'Urso Daniel Verduzco Donna Villasana Lenee Waldron Melanie Wall Qiaoyan Wang James Warren Georgina L Warry Xuehong Wei Anthony West Siobhan L Whitehead Mathew N Whiteley Jane E Wilkinson David L Willey Gabrielle Williams Leanne Williams Angela Williamson Helen Williamson Laurens Wilming Rebecca L Woodmansey Paul W Wray Jennifer Yen Jingkun Zhang Jianling Zhou Huda Zoghbi Sara Zorilla David Buck Richard Reinhardt Annemarie Poustka André Rosenthal Hans Lehrach Alfons Meindl Patrick J Minx Ladeana W Hillier Huntington F Willard Richard K Wilson Robert H Waterston Catherine M Rice Mark Vaudin Alan Coulson David L Nelson George Weinstock John E Sulston Richard Durbin Tim Hubbard Richard A Gibbs Stephan Beck Jane Rogers David R Bentley

Nature 2005 Mar;434(7031):325-37

The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

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http://www.genenames.org/sites/genenames.org/files/documents
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http://www.nature.com/doifinder/10.1038/nature03440
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http://dx.doi.org/10.1038/nature03440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2665286PMC
March 2005

The human secretin gene: fine structure in 11p15.5 and sequence variation in patients with autism.

Genomics 2002 Aug;80(2):185-94

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1006/geno.2002.6814DOI Listing
August 2002

Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28.

Genomics 2002 Jan;79(1):31-40

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza 902E, Houston, TX 77030, USA.

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http://dx.doi.org/10.1006/geno.2001.6680DOI Listing
January 2002