Catharina M.L. Volker‐Touw

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 346 citations · Full text

Human Congenital Anomalies, Developmental Anomaly, Developmental Biology +8

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

Akemi Tanaka, Megan T. Cho, Francisca Millan et al. · The American Journal of Human Genetics · 2015 · 158 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Spata5 Are Associated +8

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny Lai et al. · Genetics in Medicine · 2021 · 79 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Medicine +13

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor et al. · Genetics in Medicine · 2022 · 44 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Genetic Disorder +7

Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders

Karen van Eunen, Catharina M.L. Volker‐Touw, Albert Gerding et al. · BMC Biology · 2016 · 22 citations · Full text