Publications
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Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet. 2012 ;90(2):282-9.
. Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. Am J Med Genet A. 2015 ;167A(9):2132-7.
. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 ;98(3):562-570.
. Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nat Genet. 2017 ;49(4):527-536.
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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol. 2021 ;89(4):828-833.
. De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. Am J Med Genet A. 2022 ;188(8):2360-2366.
. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain. 2023 ;146(12):5031-5043.
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