Emma Bedoukian

机构：Children's Hospital of Philadelphia, Children's Hospital of Eastern Ontario · ORCID：0000-0003-3064-2488

发表论文 80 篇 · 总被引 1574 次 · h-index 25

代表论文

Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield (2023 · The Journal of Pediatrics · 被引 14)
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles (2024 · Human Genetics and Genomics Advances · 被引 13)
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders (2023 · Brain · 被引 12)
Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy (2023 · The Journal of Pediatrics · 被引 10)
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions (2023 · The American Journal of Human Genetics · 被引 9)
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study (2024 · British Journal of Ophthalmology · 被引 7)