Associated Papers
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Cali E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
41210864 (PubMed )
Supplement: Table_5.XLSX › Supplementary_Table_5
Insights Into the Emerging Role of Baf53b in Autism Spectrum Disorder.
Rowland ME et al.
Frontiers in Molecular Neuroscience, 2022
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1
Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.
Wenderski W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
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