-
Hughes, JL, Poulos, A, Robertson, E, Chow, CW, Sheffield, LJ, Christodoulou, J, Carter, RF. Pathology of hepatic peroxisomes and mitochondria in patients with peroxisomal disorders.
Virchows Archiv A Pathological Anatomy and Histopathology
416(3)
:
255 -264
1990
view publication
-
Tucker, EJ, Wanschers, BFJ, Szklarczyk, R, Mountford, HS, Wijeyeratne, XW, van den Brand, MAM, Leenders, AM, Rodenburg, RJ, Reljić, B, Compton, AG, et al. Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression.
PLOS Genetics
9(12)
:
e1004034
2013
view publication
-
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
-
Heimer, G, Kerätär, JM, Riley, LG, Balasubramaniam, S, Eyal, E, Pietikäinen, LP, Hiltunen, JK, Marek-Yagel, D, Hamada, J, Gregory, A, et al. MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
American Journal of Human Genetics
99(6)
:
1229 -1244
2016
view publication
-
Wilcken, B, Haas, M, Joy, P, Wiley, V, Bowling, F, Carpenter, K, Christodoulou, J, Cowley, D, Ellaway, C, Fletcher, J, et al. Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years.
Pediatrics
124(2)
:
e241 -e248
2009
view publication