Anthony Rupar
University of Western Ontario
4 Papers
5 Citations
Anthony Rupar is an academic researcher from University of Western Ontario. The author has contributed to research in topics: DGUOK & Biology. The author has an hindex of 4, co-authored 4 publications. Previous affiliations of Anthony Rupar include London Health Sciences Centre.
Chat about Author
Papers
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency
David Dimmock,J. Kay Dunn,Annette Feigenbaum,Anthony Rupar,Rita Horvath,Peter Freisinger,Bénédicte Mousson de Camaret,Lee-Jun C. Wong,Fernando Scaglia +8 more
TL;DR: It is revealed that DGUOK deficiency is associated with a variable clinical phenotype and long‐term survival is best predicted by the absence of profound hypotonia, significant psychomotor retardation, or nystagmus, which indicates liver transplantation may be considered a potential treatment.
80
Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.
Laila C. Schenkel,Jennifer Kerkhof,Alan Graham Stuart,Jack Reilly,Barry Eng,Crystal Woodside,Alexander Levstik,Christopher J. Howlett,Anthony Rupar,Anthony Rupar,Joan H.M. Knoll,Joan H.M. Knoll,Peter Ainsworth,Peter Ainsworth,John S. Waye,Bekim Sadikovic,Bekim Sadikovic +16 more
TL;DR: A standardized NGS pipeline designed to replace Sanger sequencing and multiplex ligation-dependent probe amplification analysis and to facilitate detection of sequence and copy number alterations in a single test focusing on a BRCA1/BRCA2 gene analysis panel is clinically validated.
54
Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: A unique patient or a novel metabolic disorder?
Paula J. Waters,Minesh Khashu,Yolanda Lillquist,Christof Senger,Andre Mattman,Michelle Demos,Kenneth D.R. Setchell,Anthony Rupar,Patrick Scott,Nenad Blau,Hilary Vallance +10 more
TL;DR: The possibility that this represents a novel single-gene disorder is discussed, after a neonate presented with hyperphenylalaninemia, with a persistently elevated phenylalanine/tyrosine ratio, was investigated.
5
Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria.
Venu T. Tadiboyina,Anthony Rupar,Paul Atkison,Annette Feigenbaum,Jonathan B. Kronick,Jian Wang,Robert A. Hegele +6 more
TL;DR: Three patients from two apparently unrelated old colony Mennonite families, each of whom had the hepatocerebral form of MDS together with cystathioninuria are presented.