Information

Related Research Units

Intellectual and Developmental Disabilities Research Center Research
Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center
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. Summary of the Inaugural ReNU Hope Conference and Scientific Symposium, July 23-25, 2025, Long Island, New York. Am J Med Genet A. 2026 Feb 19. View Abstract
  2. Diagnostic yield of genome sequencing in children with progressive movement disorders. Brain. 2026 Feb 05. View Abstract
  3. International Clinical Evidence-based Guideline for Kleefstra Syndrome. Genet Med. 2026 Jan 20; 102070. View Abstract
  4. ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration. Brain. 2025 Sep 03; 148(9):3407-3421. View Abstract
  5. Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry. Clin Genet. 2025 Sep; 108(3):279-291. View Abstract
  6. Incidence of pacing-induced cardiomyopathy: left bundle branch area pacing versus leadless pacing. J Interv Card Electrophysiol. 2025 Nov; 68(8):1585-1592. View Abstract
  7. The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships. Genet Med Open. 2025; 3:103429. View Abstract
  8. Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments. Am J Hum Genet. 2025 May 01; 112(5):975-983. View Abstract
  9. The expanding clinical and genetic spectrum of DYNC1H1-related disorders. Brain. 2025 Feb 03; 148(2):597-612. View Abstract
  10. Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis. JAMA Pediatr. 2025 Feb 01; 179(2). View Abstract
  11. CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans. Am J Hum Genet. 2025 Feb 06; 112(2):353-373. View Abstract
  12. 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
  13. The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships. medRxiv. 2024 Nov 20. View Abstract
  14. 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
  15. Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders. Ann Neurol. 2024 Nov; 96(5):900-913. View Abstract
  16. Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder. Am J Med Genet A. 2025 Jan; 197(1):e63843. View Abstract
  17. Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia. J Clin Invest. 2024 Jul 11; 134(17). View Abstract
  18. Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder. Genes (Basel). 2024 03 28; 15(4). View Abstract
  19. 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
  20. 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
  21. Clinical variants paired with phenotype: A rich resource for brain gene curation. Genet Med. 2024 03; 26(3):101035. View Abstract
  22. Clinical actionability of genetic findings in cerebral palsy. medRxiv. 2023 Sep 11. View Abstract
  23. Toward representative genomic research: the children's rare disease cohorts experience. Ther Adv Rare Dis. 2023 Jan-Dec; 4:26330040231181406. View Abstract
  24. Creating an automated contemporaneous cohort in sickle cell anemia to predict survival after disease-modifying therapy. Blood Adv. 2023 08 08; 7(15):3775-3782. View Abstract
  25. Updated consensus guidelines on the management of Phelan-McDermid syndrome. Am J Med Genet A. 2023 08; 191(8):2015-2044. View Abstract
  26. 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
  27. 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
  28. Sexual violence as a precipitator of chronic pain in young adults with sickle cell disease. Blood Adv. 2022 08 23; 6(16):4831-4833. View Abstract
  29. 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
  30. 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
  31. Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Ann Clin Transl Neurol. 2022 02; 9(2):193-205. View Abstract
  32. CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Clin Genet. 2021 10; 100(4):468-477. View Abstract
  33. PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders. Eur J Hum Genet. 2021 08; 29(8):1235-1244. View Abstract
  34. 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
  35. Sex Differences in Coronary Arterial Calcification in Symptomatic Patients. Am J Cardiol. 2021 06 15; 149:16-20. View Abstract
  36. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2020 Jan 02; 106(1):137. View Abstract
  37. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2019 02 07; 104(2):319-330. View Abstract
  38. 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. View Abstract
  39. 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
  40. 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
  41. 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; 37(10):975-982. View Abstract
  42. A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome. Clin Dysmorphol. 2016 Oct; 25(4):186-9. View Abstract
  43. Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype. JIMD Rep. 2017; 34:1-9. View Abstract
  44. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May; 135(5):569-586. View Abstract
  45. 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
  46. Unusual cause of hyperbilirubinaemia in a preterm baby. J Paediatr Child Health. 2015 Dec; 51(12):1226-7. View Abstract
  47. 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
  48. 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
  49. Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder. Genome Res. 2013 Jan; 23(1):23-33. View Abstract
  50. Pierpont syndrome: a collaborative study. Am J Med Genet A. 2011 Sep; 155A(9):2203-11. View Abstract
  51. 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
  52. 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
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