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Large mosaic copy number variations confer autism risk

Publication: Journal Article

Sherman, Maxwell A, Rachel Rodin, Giulio Genovese, Caroline Dias, Alison Barton, Ronen Mukamel, Bonnie Berger, Peter Park, Christopher Walsh, and Po-Ru Loh. 2021. “Large Mosaic Copy Number Variations Confer Autism Risk”. Nat Neurosci 24 (2): 197-203.

New preprint on large-effect protein-coding repeat polymorphisms

News: January 20, 2021

We are excited to share a new preprint, " Protein-coding repeat polymorphisms strongly shape diverse human phenotypes" (Mukamel*, Handsaker* et al.), which finds that some of the largest effects of common genetic variants on human phenotypes arise from variable-number-of-tandem-repeat (VNTR)...

ASD mosaic CNV paper published in Nature Neuroscience

News: January 11, 2021

Maxwell Sherman's paper on mosaic CNVs in autism ( Sherman et al. 2020 Nat Neurosci) is now published -- congratulations, Max! This work, a collaboration with Chris Walsh and Peter Park, implicated large mosaic copy number variants (CNVs) arising early in embryonic development as a likely...