Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
2019 · The American Journal of Human Genetics · 48 citations
https://doi.org/10.1016/j.ajhg.2019.12.004
E
Emma Bedoukian
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Emma Bedoukian is an academic researcher from Children's Hospital of Philadelphia. The author has contributed to research in topics: Genomics and Rare Diseases & Retinal Development and Disorders & Genomic variations and chromosomal abnormalities. The author has an h-index of 25, co-authored 69 publications.
ORCID: 0000-0003-3064-2488Papers by this author
worksMolecular Diagnostic Outcomes from 700 Cases
2022 · Journal of Molecular Diagnostics · 10 citations
https://doi.org/10.1016/j.jmoldx.2021.12.002
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study
2024 · British Journal of Ophthalmology · 6 citations
https://doi.org/10.1136/bjo-2023-323747
Anti-TRPM1 autoantibody-positive unilateral melanoma associated retinopathy (MAR) triggered by immunotherapy recapitulates functional and structural details of TRPM1-associated congenital stationary night blindness
2024 · American Journal of Ophthalmology Case Reports · 5 citations
https://doi.org/10.1016/j.ajoc.2024.102098
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B
2025 · The American Journal of Human Genetics · 1 citations
https://doi.org/10.1016/j.ajhg.2025.09.008
Recurrent missense variant identified in two unrelated families with <scp><i>MPZL2</i></scp>‐related hearing loss, expanding the variant spectrum associated with <scp>DFNB111</scp>
2024 · American Journal of Medical Genetics Part A · 0 citations
https://doi.org/10.1002/ajmg.a.63530
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