Associated Papers
A genetic variant in the MAST1 gene is associated with mega-corpus-callosum syndrome with hypoplastic cerebellar vermis, in a fetus.
Yi S et al.
Molecular Genetics & Genomic Medicine, 2024
MAST1-related mega-corpus-callosum syndrome with central hypogonadism.
Sloboda N et al.
European Journal of Medical Genetics, 2023
Microtubule-Associated Serine/Threonine (MAST) Kinases in Development and Disease.
Rumpf M et al.
International Journal of Molecular Sciences, 2023
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
Phenotypic and Genetic Complexity in Pediatric Movement Disorders.
Kim MJ et al.
Frontiers in Genetics, 2022
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Spinelli E et al.
Annals of Neurology, 2021
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
32901917 (PubMed )
Supplement: CGE-98-562-s003.xlsx › Supplementary_2
MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia.
Rodríguez-García ME et al.
American Journal of Medical Genetics. Part A, 2020
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
Iwama K et al.
Journal of Medical Genetics, 2019
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
Tripathy R et al.
Neuron, 2018
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