Sophia Ceulemans

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Heterozygous Variants +8

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Frederike L. Harms, Katta M. Girisha, Andrew A. Hardigan et al. · The American Journal of Human Genetics · 2016 · 84 citations · Full text

Facial Dysmorphism, Genetic Disorder, Cause Intellectual Disability +5

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Felix Marbach, Georgi Stoyanov, Florian Erger et al. · Genetics in Medicine · 2021 · 27 citations · Full text

Analysis of current testing practices for biallelic <i><scp>MUTYH</scp></i> mutations in <i><scp>MUTYH</scp></i>‐associated polyposis

Michelle Landon, Sophia Ceulemans, Devki S. Saraiya et al. · Clinical Genetics · 2014 · 14 citations · Full text

Founder Mutation, Allelic Variant, Genetic Testing +15