Esmee Kasteleijn

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

William B. Dobyns, Kimberly A. Aldinger, Gisele E. Ishak et al. · The American Journal of Human Genetics · 2018 · 84 citations · Full text

Axon Guidance, Molecular Neuroscience, Cellular Neurobiology +9

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Pamela Magini, Daphne J. Smits, Laura Vandervore et al. · The American Journal of Human Genetics · 2019 · 79 citations · Full text

Developmental Anomaly, Developmental Disorder Characterized, Developmental Biology +6

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders

Jordy Dekker, Rachel Schot, Michiel Bongaerts et al. · The American Journal of Human Genetics · 2023 · 52 citations · Full text

Neurodevelopmental Disorders, Functional Genomics, Gene Sequence Annotation +10

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

Laura Vandervore, Rachel Schot, Chiara Milanese et al. · The American Journal of Human Genetics · 2019 · 47 citations · Full text

Developmental Biology, Cell Regulation, Brain Development +10

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

Laura Vandervore, Rachel Schot, Esmee Kasteleijn et al. · Brain · 2019 · 31 citations · Full text

Genetics, Molecular Genetics, Cell Cycle +24