Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Sarah Weckhuysen

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

American Journal of Human Genetics

English

Biallelic VARS Variants Cause Developmental Encephalopathy With Microcephaly That Is Recapitulated in Vars Knockout Zebrafish

Nature Communications

Molecular Biology

English

Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy

Nature Communications

Molecular Biology

English

Correction To: The Landscape of Epilepsy-Related GATOR1 Variants

Genetics in Medicine

English

Clinical Spectrum of STX1B-related Epileptic Disorders

English

Re-Annotation of 191 Developmental and Epileptic Encephalopathy-Associated Genes Unmasks De Novo Variants in SCN1A

npj Genomic Medicine

Molecular Biology

English

Delineating the GRIN1 Phenotypic Spectrum

English

Involvement of GATOR Complex Genes in Familial Focal Epilepsies and Focal Cortical Dysplasia

English

Genetic and Neurodevelopmental Spectrum ofSYNGAP1-associated Intellectual Disability and Epilepsy

Journal of Medical Genetics

English

NovelGABRG2mutations Cause Familial Febrile Seizures

Neurology: Genetics

English