-
Rius, R, Compton, AG, Baker, NL, Welch, AE, Coman, D, Kava, MP, Minoche, AE, Cowley, MJ, Thorburn, DR, Christodoulou, J.
Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.
Genes
12(4)
:
607
2024
view publication
-
Frazier, AE, Compton, AG, Kishita, Y, Hock, DH, Welch, AE, Amarasekera, SSC, Rius, R, Formosa, LE, Imai-Okazaki, A, Francis, D, et al.
Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus.
Med
2(1)
:
49 -73.e10
2021
view publication
-
Frazier, AE, Thorburn, DR, Compton, AG.
Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology.
Journal of Biological Chemistry
294(14)
:
5386 -5395
2019
view publication
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Lake, NJ, Compton, AG, Rahman, S, Thorburn, DR.
Leigh syndrome: One disorder, more than 75 monogenic causes.
Annals of Neurology
79(2)
:
190 -203
2016
view publication
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Calvo, SE, Compton, AG, Hershman, SG, Lim, SC, Lieber, DS, Tucker, EJ, Laskowski, A, Garone, C, Liu, S, Jaffe, DB, et al.
Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing.
Science Translational Medicine
4(118)
:
118ra10
2012
view publication