Publications by authors named "Eric M Scott"

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Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis.
Patrick Maffucci, Benedetta Bigio, Franck Rapaport, Aurélie Cobat, Alessandro Borghesi, Eric M Scott

Proc Natl Acad Sci U S A· January 2019

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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.
Eric M Scott, Anason Halees, Yuval Itan, Emily G Spencer, Yupeng He

Nat Genet· September 2016

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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Naiara Akizu, Vincent Cantagrel, Maha S Zaki, Lihadh Al-Gazali, Xin Wang, Eric M Scott

Nat Genet· May 2015

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Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
Gaia Novarino, Paul El-Fishawy, Hulya Kayserili, Nagwa A Meguid, Eric M Scott

Science· October 2012

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