Publications
Filters: Author is Lek, Monkol [Clear All Filters]
Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genet Med. 2022 ;24(4):784-797.
. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. 2023 ;146(8):3273-3288.
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The landscape of tolerated genetic variation in humans and primates. Science. 2023 ;380(6648):eabn8153.
. The landscape of tolerated genetic variation in humans and primates. bioRxiv. 2023 ;.
. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 2013 ;77(2):235-42.
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