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(2022) Biallelic variants in <i>ZNF142</i> lead to a syndromic neurodevelopmental disorder. Clinical Genetics. pp. 98-109. ISSN 0009-9163
(2021) Bi-allelic loss-of-function variants in <i>BCAS3</i> cause a syndromic neurodevelopmental disorder. American Journal of Human Genetics. pp. 1069-1082. ISSN 0002-9297