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Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis. Mol Genet Metab (2018). doi:10.1016/j.ymgme.2018.08.005
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med 9, 26 (2017).
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Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Med 8, 105 (2016).
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POGZ truncating alleles cause syndromic intellectual disability. Genome Med 8, 3 (2016).
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The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med 18, 443-51 (2016).
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Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Hum Genet 134, 671-3 (2015).
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A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell 159, 200-14 (2014).