about
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunctionInactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical developmentOrion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics.A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration
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description
onderzoeker
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researcher
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researcher
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հետազոտող
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Brett Copeland
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Brett Copeland
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Brett Copeland
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Brett Copeland
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Brett Copeland
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Brett Copeland
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Brett Copeland
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Brett Copeland
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Brett Copeland
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Brett Copeland
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Brett Copeland
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Brett Copeland
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Brett Copeland
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Brett Copeland
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Brett Copeland
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Brett Copeland
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Brett Copeland
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Brett Copeland
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0000-0003-2933-6061