Associated Papers
H2A monoubiquitination: insights from human genetics and animal models.
Ryan CW et al.
Human Genetics, 2024
Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.
Gafner M et al.
Journal of Human Genetics, 2022
Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the BCORL1 Gene.
Muthusamy B et al.
Genes, 2021
Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities.
Shukla A et al.
American Journal of Medical Genetics. Part A, 2019
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