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
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia AM et al.
Nature Genetics, 2023
37500730 (PubMed )
Supplement: 41588_2023_1451_MOESM2_ESM.xlsx › SuppTable1Copied_230419
Insights Into the Emerging Role of Baf53b in Autism Spectrum Disorder.
Rowland ME et al.
Frontiers in Molecular Neuroscience, 2022
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Bell S et al.
American Journal of Human Genetics, 2019
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › UH11T1
Select a paper to view details