James Lupski
Professor
Baylor College of Medicine
From this contributor
Insights for autism from Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease and autism are both associated with alterations in the number of copies of certain genetic regions, mutations in multiple candidate genes and with both inherited and spontaneous mutations, notes human geneticist James Lupski.
Insights for autism from Charcot-Marie-Tooth disease
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Autism-linked variants converge on two molecular patterns in mouse brains
Gene activity across 17 autism mouse models occurs in either of two opposing transcriptomic states, supporting the idea that diverse genetic changes may converge on a few recurring biological patterns.