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Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly. Nat Commun 11, 4038 (2020).
Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism. Proc Natl Acad Sci U S A 117, 10055-10066 (2020).
MendelProb: probability and sample size calculations for Mendelian studies of exome and whole genome sequence data. Bioinformatics 35, 529-531 (2019).
Recurrent homozygous damaging mutation in , encoding a protein disulfide isomerase, in four families with microlissencephaly. J Med Genet 57, 274-282 (2020).