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Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus.
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Amor, DJ, Chitty, LS, Van den Veyver, IB.
Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing.
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Gjorgioski, S, Halliday, J, Riley, M, Amor, DJ, Delatycki, MB, Bankier, A.
Genetics and pediatric hospital admissions, 1985 to 2017.
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Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis—A case report and review of literature.
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Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Molecular Genetics & Genomic Medicine
8(11)
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