Maya Chopra, MBBS, FRACP
Attending Physician, Division of Genetics & Genomics
Assistant Professor of Neurology, Harvard Medical School
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Maya Chopra, MBBS, FRACP
Attending Physician, Division of Genetics & Genomics
Assistant Professor of Neurology, Harvard Medical School
Medical Services
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
Professional History
Dr. Chopra graduated from medical school in 2000 from the University of NSW and subsequently obtained her Australian Board qualifications in Pediatrics and Clinical Genetics from the Royal Australasian College of Physicians and the Human Genetics Society of Australasia.
Dr. Chopra is a Physician with expertise in the assessment and diagnosis of children with rare genetic syndromes, particularly those with intellectual and developmental difficulties, and craniofacial differences. She has global experience, having held clinical positions in Sydney (Royal Prince Alfred Hospital), Shanghai (Shanghai First Maternity and Infant Hospital) and Paris (Imagine Institute of Genetic Diseases).
Dr. Chopra also serves as Director of Translational Genomic Medicine at the RSZ Translational Neuroscience Center and Assistant Professor of Neurology at Harvard Medical School.
Publications
Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry. View Abstract
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments. View Abstract
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration. View Abstract
The expanding clinical and genetic spectrum of DYNC1H1-related disorders. View Abstract
Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis. View Abstract
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans. View Abstract
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. View Abstract
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships. View Abstract
Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration. View Abstract
Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders. View Abstract
Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder. View Abstract
Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia. View Abstract
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder. View Abstract
Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders. View Abstract
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders. View Abstract
Clinical variants paired with phenotype: A rich resource for brain gene curation. View Abstract
Clinical actionability of genetic findings in cerebral palsy. View Abstract
Toward representative genomic research: the children's rare disease cohorts experience. View Abstract
Updated consensus guidelines on the management of Phelan-McDermid syndrome. View Abstract
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis. View Abstract
GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy. View Abstract
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1. View Abstract
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. View Abstract
Mendelian etiologies identified with whole exome sequencing in cerebral palsy. View Abstract
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. View Abstract
PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders. View Abstract
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. View Abstract
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. View Abstract
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. View Abstract
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. View Abstract
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. View Abstract
A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome. View Abstract
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. View Abstract
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. View Abstract
Mammalian target of rapamycin inhibitors for intractable epilepsy and subependymal giant cell astrocytomas in tuberous sclerosis complex. View Abstract
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. View Abstract
Pierpont syndrome: a collaborative study. View Abstract
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. View Abstract
An Australian tuberous sclerosis cohort: are surveillance guidelines being met? View Abstract