Information

Related Research Units

Intellectual and Developmental Disabilities Research Center Research
Rosamund Stone Zander Translational Neuroscience Center (RSZ TNC) Research
Neurology Research
F.M. Kirby Neurobiology Center

Research Overview

Dr. Chopra's focus is the discovery and delineation of new and emerging rare monogenic neurodevelopmental syndromes and the evaluation of treatment options for such disorders based on underlying mechanism.

Research Background

Dr. Chopra is fully qualified as a Clinical Geneticist and Pediatrician, having obtained her specialist qualifications in Australia in 2010 through the Royal Australasian College of Physicians and the Human Genetics Society of Australasia. She has experience in the assessment and diagnosis of children with rare genetic disorders, with previous positions in Sydney (Royal Prince Alfred Hospital), Shanghai (Shanghai First Maternity and Infant Hospital) and Paris (Imagine Institute of Genetic Diseases). In her role as Director of Translational Genomic Medicine at the RSZ-Translational Neuroscience Center, she leads the evaluation of genetic disorders for suitability for gene-based therapies, clinical-trial readiness, and multidisciplinary clinics.

Education

Medical School

University of New South Wales
2000 Sydney, New South Wales Australia

Residency

Children's Hospital at Westmead Pediatric Medicine
2006 Sydney, New South Wales Australia

Fellowship

Clinical Genetics Sydney Children's Hospital Network
2010 Sydney Australia

Media

Caregiver Profile

Meet Dr. Maya Chopra

Publications

  1. CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans. Am J Hum Genet. 2024 Dec 27. View Abstract
  2. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Abstract
  3. Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis. JAMA Pediatr. 2024 Dec 02. View Abstract
  4. The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships. medRxiv. 2024 Nov 20. View Abstract
  5. Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration. medRxiv. 2024 Nov 18. View Abstract
  6. Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders. Ann Neurol. 2024 Nov; 96(5):900-913. View Abstract
  7. Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder. Am J Med Genet A. 2025 Jan; 197(1):e63843. View Abstract
  8. Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia. J Clin Invest. 2024 Jul 11; 134(17). View Abstract
  9. Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder. Genes (Basel). 2024 03 28; 15(4). View Abstract
  10. Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders. Ann Clin Transl Neurol. 2024 02; 11(2):251-262. View Abstract
  11. Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders. Mol Genet Genomic Med. 2024 Jan; 12(1):e2363. View Abstract
  12. Clinical variants paired with phenotype: A rich resource for brain gene curation. Genet Med. 2024 03; 26(3):101035. View Abstract
  13. Clinical actionability of genetic findings in cerebral palsy. medRxiv. 2023 Sep 11. View Abstract
  14. Toward representative genomic research: the children's rare disease cohorts experience. Ther Adv Rare Dis. 2023 Jan-Dec; 4:26330040231181406. View Abstract
  15. Updated consensus guidelines on the management of Phelan-McDermid syndrome. Am J Med Genet A. 2023 08; 191(8):2015-2044. View Abstract
  16. Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis. JAMA Neurol. 2022 12 01; 79(12):1287-1295. View Abstract
  17. GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy. Mol Ther Methods Clin Dev. 2022 Dec 08; 27:32-46. View Abstract
  18. Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1. Eur J Hum Genet. 2022 08; 30(8):960-966. View Abstract
  19. Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. Am J Hum Genet. 2022 04 07; 109(4):750-758. View Abstract
  20. Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Ann Clin Transl Neurol. 2022 02; 9(2):193-205. View Abstract
  21. CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Clin Genet. 2021 10; 100(4):468-477. View Abstract
  22. PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders. Eur J Hum Genet. 2021 08; 29(8):1235-1244. View Abstract
  23. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Am J Hum Genet. 2021 06 03; 108(6):1138-1150. View Abstract
  24. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2020 Jan 02; 106(1):137. View Abstract
  25. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2019 02 07; 104(2):319-330. View Abstract
  26. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. Genet Med. 2018 09; 20(9):1061-1068. View Abstract
  27. MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. Am J Med Genet A. 2018 01; 176(1):181-186. View Abstract
  28. A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome. Clin Dysmorphol. 2016 Oct; 25(4):186-9. View Abstract
  29. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May; 135(5):569-586. View Abstract
  30. Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. Am J Hum Genet. 2016 Apr 07; 98(4):772-81. View Abstract
  31. Mammalian target of rapamycin inhibitors for intractable epilepsy and subependymal giant cell astrocytomas in tuberous sclerosis complex. J Pediatr. 2014 May; 164(5):1195-200. View Abstract
  32. Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Hum Mutat. 2013 Jan; 34(1):237-47. View Abstract
  33. Pierpont syndrome: a collaborative study. Am J Med Genet A. 2011 Sep; 155A(9):2203-11. View Abstract
  34. Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Orphanet J Rare Dis. 2011 Jun 23; 6:46. View Abstract
  35. An Australian tuberous sclerosis cohort: are surveillance guidelines being met? J Paediatr Child Health. 2011 Oct; 47(10):711-6. View Abstract

Contact Maya Chopra

Phone: 617-355-4204
Fax: 617-730-0340
Print Profile