Tobias Bartolomaeus

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 144 citations · Full text

The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals

Pia Zacher, Frank Brandhoff, Tobias Bartolomaeus et al. · Genetics in Medicine · 2021 · 52 citations · Full text

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

Dervla M. Connaughton, Rufeng Dai, Danielle Owen et al. · The American Journal of Human Genetics · 2020 · 49 citations · Full text

Medicine, Genetics, Developmental Biology +1

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

Maimuna Sali Paul, Anna R. Duncan, Casie A. Genetti et al. · The American Journal of Human Genetics · 2022 · 29 citations · Full text

Neurodevelopmental Disorders, Mendelian Disorder, Genetic Disorder +8

<i>RHOBTB2</i> Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood

Sara Zagaglia, Dora Steel, S. Krithika et al. · Neurology · 2021 · 27 citations · Full text