Jaya Punetha

Jaya Punetha

Jaya Punetha

Jaya Punetha

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23Publications

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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 03 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/ana.25241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105519PMC
June 2018

Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy.

Eur J Hum Genet 2016 10 9;24(10):1511-4. Epub 2016 Mar 9.

Department of Integrative Systems Biology, The George Washington University School of Medicine, Washington, DC, USA.

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http://dx.doi.org/10.1038/ejhg.2016.22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027673PMC
October 2016

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.

Ann Neurol 2016 07 25;80(1):101-11. Epub 2016 May 25.

Institute for Neuroscience and Muscle Research, Kids Research Institute, Children's Hospital at Westmead, Westmead, New South Wales, Australia.

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http://dx.doi.org/10.1002/ana.24687DOI Listing
July 2016

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.

Eur J Hum Genet 2015 Jun 3;23(6):883-6. Epub 2014 Sep 3.

1] Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, New South Wales, Australia [2] Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1038/ejhg.2014.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795062PMC
June 2015

Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study.

Ann Neurol 2015 Apr 13;77(4):684-96. Epub 2015 Mar 13.

Children's National Medical Center, Washington, DC; Department of Neuroscience (Neurological, Psychiatric, Sensory, Reconstructive, Rehabilitative Science), University of Padua, Padua, Italy.

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http://dx.doi.org/10.1002/ana.24370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4403971PMC
April 2015

Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.

Pediatr Neurol 2015 Feb 5;52(2):239-44. Epub 2014 Oct 5.

Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC; Department of Neurology and Neurological Sciences, Stanford University Medical Center, Palo Alto, California. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.09.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351714PMC
February 2015

Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar.

Circ Cardiovasc Genet 2013 Aug 14;6(4):427-34. Epub 2013 Jul 14.

Department of Integrative Systems Biology, The George Washington University School of Medicine, Washington, DC, USA.

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http://dx.doi.org/10.1161/CIRCGENETICS.113.000085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4116683PMC
August 2013

Facile synthesis of nucleoside 5'-(α-P-seleno)-triphosphates and phosphoroselenoate RNA transcription.

RNA 2011 Oct 26;17(10):1932-8. Epub 2011 Aug 26.

Department of Chemistry, Georgia State University, Atlanta, GA 30303, USA.

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http://dx.doi.org/10.1261/rna.2719311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185924PMC
October 2011