Maya Chopra

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 11

Top Venues

Genes

European journal of human genetics : EJHG

American journal of medical genetics. Part A

medRxiv : the preprint server for health sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Ineke Cordova, Alyssa Blesson, Juliann M Savatt, Abigail Sveden, Sonal Mahida, Heather Hazlett, Erin Rooney Riggs, Maya Chopra, null null
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L -Related Syndromic Neurodevelopmental Disorder. Genes 15 (4) (2024)
Ineke Cordova, Alyssa Blesson, Juliann M Savatt, Abigail Sveden, Sonal Mahida, Heather Hazlett, Erin Rooney Riggs, Maya Chopra, null null
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L -Related Syndromic Neurodevelopmental Disorder. Genes 15 (4) (2024)
Ineke Cordova, Alyssa Blesson, Juliann M Savatt, Abigail Sveden, Sonal Mahida, Heather Hazlett, Erin Rooney Riggs, Maya Chopra, null null
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L -Related Syndromic Neurodevelopmental Disorder. Genes 15 (4) (2024)
Ineke Cordova, Alyssa Blesson, Juliann M Savatt, Abigail Sveden, Sonal Mahida, Heather Hazlett, Erin Rooney Riggs, Maya Chopra, null null
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L -Related Syndromic Neurodevelopmental Disorder. Genes 15 (4) (2024)
Ineke Cordova, Alyssa Blesson, Juliann M Savatt, Abigail Sveden, Sonal Mahida, Heather Hazlett, Erin Rooney Riggs, Maya Chopra, null null
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L -Related Syndromic Neurodevelopmental Disorder. Genes 15 (4) (2024)
Sara A Lewis, Maya Chopra, Julie S Cohen, Jennifer M Bain, Bhooma R Aravamuthan, Jason B Carmel, Michael Collingwood Fahey, Reeval Segel, Richard F Wintle, Michael Zech, Halie J May, Nahla Haque, Darcy L Fehlings, Siddharth Srivastava, Michael C Kruer
Clinical actionability of genetic findings in cerebral palsy. medRxiv : the preprint server for health sciences (2023)
Zoë J Frazier, Eurnestine Brown, Shira Rockowitz, Ted Lee, Bo Zhang, Abigail Sveden, Nancy L Chamberlin, Kira A Dies, Annapurna Poduri, Piotr Sliz, Maya Chopra
Toward representative genomic research: the children's rare disease cohorts experience. Therapeutic advances in rare disease 4 (2023)
Maya Chopra, Dustin L Gable, Jamie Love-Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz, Elizabeth Barkoudah, Lucia Bastianelli, David Coulter, Emily Davidson, Claudio M De Gusmao, David Fogelman, Kathleen Huth, Paige Marshall, Donna Nimec, Jessica Solomon Sanders, Benjamin J Shore, Brian Snyder, Scellig S D Stone, Ana Ubeda, Colyn Watkins, Charles Berde, Jeffrey Bolton, Catherine Brownstein, Michael Costigan, Darius Ebrahimi-Fakhari, Abbe Lai, Anne O'Donnell-Luria, Alex R Paciorkowski, Anna Pinto, John Pugh, Lance Rodan, Eugene Roe, Lindsay Swanson, Bo Zhang, Michael C Kruer, Mustafa Sahin, Annapurna H Poduri, Siddharth Srivastava
Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Annals of clinical and translational neurology 9 (2) (2022)
Maya Chopra, Richard C Caswell, Giulia Barcia, Sophie Rondeau, Laurence Jonard, Patrick Nitchké, Daniel Amram, Marc-Lionel Bellaiche, Veronique Abadie, Marine Parodi, Francoise Denoyelle, Andrew Hattersley, Christine Bole, Stanislas Lyonnet, Sandrine Marlin
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1. European journal of human genetics : EJHG 30 (8) (2022)
Carolina Alvarez, Sumaiya Iqbal, Kim Borredy, Jeanne Amiel, Christiane Zweier, Giulia Barcia, Cornelia Kraus, Heike Weyhreter, Alexander G Bassuk, Maya Chopra, Guido Rubboli, Rikke S Møller
PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders. European journal of human genetics : EJHG 29 (8) (2021)
Christopher T Gordon, Maya Chopra, Myriam Oufadem, Olivier Alibeu, Marc Bras, Nathalie Boddaert, Christine Bole-Feysot, Patrick Nitschké, Véronique Abadie, Stanislas Lyonnet, Jeanne Amiel
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. American journal of medical genetics. Part A 176 (1) (2017)

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Publication Activity (10 Years)

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Maya Chopra