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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

Am J Hum Genet 109:361-372 (2022)
DOI:10.1016/j.ajhg.2021.12.011

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Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers.

J Med Genet 48:856-9 (2011)
DOI:10.1136/jmedgenet-2011-100156