Sophia Ceulemans

机构：Rady Children's Hospital-San Diego · ORCID：0000-0003-0216-4538

发表论文 21 篇 · 总被引 391 次 · h-index 7

代表论文

Genetic testing and counseling for the unexplained epilepsies: An evidence‐based practice guideline of the National Society of Genetic Counselors (2022 · Journal of Genetic Counseling · 被引 129)
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy (2019 · The American Journal of Human Genetics · 被引 100)
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism (2016 · The American Journal of Human Genetics · 被引 89)
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain (2021 · Genetics in Medicine · 被引 30)
Analysis of current testing practices for biallelic MUTYH mutations in MUTYH ‐associated polyposis (2014 · Clinical Genetics · 被引 14)
Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes (2018 · Annals of Clinical and Translational Neurology · 被引 12)