Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
2016 · Human Genetics · 155 citations
https://doi.org/10.1007/s00439-016-1655-9
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Maya Chopra
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Maya Chopra is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Genomics and Rare Diseases & Genetics and Neurodevelopmental Disorders & Genomic variations and chromosomal abnormalities. The author has an h-index of 18, co-authored 59 publications.
ORCID: 0000-0002-2574-3375Papers by this author
worksPhenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
2011 · Orphanet Journal of Rare Diseases · 105 citations
https://doi.org/10.1186/1750-1172-6-46
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy
2016 · The American Journal of Human Genetics · 64 citations
https://doi.org/10.1016/j.ajhg.2016.01.016
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations
2017 · Genetics in Medicine · 39 citations
https://doi.org/10.1038/gim.2017.214
The expanding clinical and genetic spectrum of <i>DYNC1H1</i>-related disorders
2024 · Brain · 14 citations
https://doi.org/10.1093/brain/awae183
Rare genetic disease in China: a call to improve clinical services
2015 · Orphanet Journal of Rare Diseases · 13 citations
https://doi.org/10.1186/s13023-015-0333-7
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