Maya Chopra

Maya Chopra

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Maya Chopra

Maya Chopra

Publications by authors named "Maya Chopra"

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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Am J Hum Genet 2019 Feb 10;104(2):319-330. Epub 2019 Jan 10.

Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369415PMC
February 2019

A novel TSC2 missense variant associated with a variable phenotype of tuberous sclerosis complex: case report of a Chinese family.

BMC Med Genet 2018 05 30;19(1):90. Epub 2018 May 30.

Institute of Pediatrics, Children's Hospital of Fudan University, Shanghai, People's Republic of China.

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http://dx.doi.org/10.1186/s12881-018-0611-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5975528PMC
May 2018

MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

Am J Med Genet A 2018 01 21;176(1):181-186. Epub 2017 Nov 21.

Laboratory of Embryology and Genetics of Congenital Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.38536DOI Listing
January 2018

The impact of non-invasive prenatal testing on anxiety in women considered at high or low risk for aneuploidy after combined first trimester screening.

Prenat Diagn 2017 Oct 14;37(10):975-982. Epub 2017 Aug 14.

Fetal Medicine Unit, Royal Prince Alfred Hospital, Camperdown, NSW, Australia.

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http://doi.wiley.com/10.1002/pd.5110
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http://dx.doi.org/10.1002/pd.5110DOI Listing
October 2017

A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome.

Clin Dysmorphol 2016 Oct;25(4):186-9

aFetal Medicine Unit & Prenatal Diagnosis Centre Departments of bRadiology cGynecology, Shanghai First Maternity and Infant hospital, Tongji University School of Medicine, Shanghai, People's Republic of China dDepartment of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital eDepartment of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada fDepartment of Medical Genomics, Royal Prince Alfred Hospital gDiscipline of Genetic Medicine and Centre for China Studies, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1097/MCD.0000000000000130DOI Listing
October 2016

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:
Przemyslaw Szafranski Tomasz Gambin Avinash V Dharmadhikari Kadir Caner Akdemir Shalini N Jhangiani Jennifer Schuette Nihal Godiwala Svetlana A Yatsenko Jessica Sebastian Suneeta Madan-Khetarpal Urvashi Surti Rosanna G Abellar David A Bateman Ashley L Wilson Melinda H Markham Jill Slamon Fernando Santos-Simarro María Palomares Julián Nevado Pablo Lapunzina Brian Hon-Yin Chung Wai-Lap Wong Yoyo Wing Yiu Chu Gary Tsz Kin Mok Eitan Kerem Joel Reiter Namasivayam Ambalavanan Scott A Anderson David R Kelly Joseph Shieh Taryn C Rosenthal Kristin Scheible Laurie Steiner M Anwar Iqbal Margaret L McKinnon Sara Jane Hamilton Kamilla Schlade-Bartusiak Dawn English Glenda Hendson Elizabeth R Roeder Thomas S DeNapoli Rebecca Okashah Littlejohn Daynna J Wolff Carol L Wagner Alison Yeung David Francis Elizabeth K Fiorino Morris Edelman Joyce Fox Denise A Hayes Sandra Janssens Elfride De Baere Björn Menten Anne Loccufier Lieve Vanwalleghem Philippe Moerman Yves Sznajer Amy S Lay Jennifer L Kussmann Jasneek Chawla Diane J Payton Gael E Phillips Erwin Brosens Dick Tibboel Annelies de Klein Isabelle Maystadt Richard Fisher Neil Sebire Alison Male Maya Chopra Jason Pinner Girvan Malcolm Gregory Peters Susan Arbuckle Melissa Lees Zoe Mead Oliver Quarrell Richard Sayers Martina Owens Charles Shaw-Smith Janet Lioy Eileen McKay Nicole de Leeuw Ilse Feenstra Liesbeth Spruijt Frances Elmslie Timothy Thiruchelvam Carlos A Bacino Claire Langston James R Lupski Partha Sen Edwina Popek Paweł Stankiewicz

Hum Genet 2016 May 12;135(5):569-586. Epub 2016 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-016-1655-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518754PMC
May 2016

Unusual cause of hyperbilirubinaemia in a preterm baby.

J Paediatr Child Health 2015 Dec 3;51(12):1226-7. Epub 2015 Jun 3.

Department of Newborn Care, Royal Prince Alfred Hospital, Sydney, New South Waless, Australia.

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http://dx.doi.org/10.1111/jpc.12931DOI Listing
December 2015

Mammalian target of rapamycin inhibitors for intractable epilepsy and subependymal giant cell astrocytomas in tuberous sclerosis complex.

J Pediatr 2014 May 8;164(5):1195-200. Epub 2014 Feb 8.

Department of Neurology, Sydney Children's Hospital, Randwick, New South Wales, Australia; The School of Women's and Children's Health, Medicine UNSW, University of New South Wales, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1016/j.jpeds.2013.12.053DOI Listing
May 2014

An Australian tuberous sclerosis cohort: are surveillance guidelines being met?

J Paediatr Child Health 2011 Oct 30;47(10):711-6. Epub 2011 Mar 30.

The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children's Hospital, Randwick, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2011.02038.xDOI Listing
October 2011

Pierpont syndrome: a collaborative study.

Am J Med Genet A 2011 Sep 10;155A(9):2203-11. Epub 2011 Aug 10.

Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.34147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4495254PMC
September 2011

Duodenal atresia: consider Feingold syndrome.

J Paediatr Child Health 2010 Mar;46(3):136-7

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http://dx.doi.org/10.1111/j.1440-1754.2010.01695.xDOI Listing
March 2010