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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2017
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic testAnath C Lionel, Gregory Costain, Nasim Monfared, et al.CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|February 13, 2018
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participantsMiriam S Reuter, Susan Walker, Bhooma Thiruvahindrapuram, et al.Nature Genetics|December 20, 2016
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaEsther Meyer, Keren J Carss, Julia Rankin, et al.Nature|May 13, 2026
An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autismClarrisa A Bradley, Sangyoon Y Ko, Meng Tian, et al.Cell|November 11, 2022
Genomic architecture of autism from comprehensive whole-genome sequence annotationBrett Trost, Bhooma Thiruvahindrapuram, Ada J S Chan, et al.Pageof 25