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Paper Details

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Genet Med
53
2019
FASTQ, candidate gene, candidate genes, developmental disorders, patients
Author NameAffiliation
Vandana ShashiDuke University School of Medicine
Kelly SchochDuke University School of Medicine
Rebecca C SpillmannDuke University School of Medicine
Heidi CopeDuke University School of Medicine
Nicole WalleyDuke University School of Medicine
Loren D M PenaDuke University School of Medicine
Allyn McConkie-RosellDuke University School of Medicine
Yong-Hui JiangDuke University School of Medicine
Anna C NeedImperial College London
David B GoldsteinInstitute for Genomic Medicine, Columbia University
David B GoldsteinInstitute for Genomic Medicine, Columbia University
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Release 1.2