Publications

Hyperleucinosis during infections in maple syrup urine disease post liver transplantation
Molecular Genetics and Metabolism Reports
Guilder, L. and Prada, C.E. and Saenz, S. and Jain-Ghai, S. and Karp, N. and Mazariegos, G. and Ratko, S. and Salvarinova, R. and Mercimek-Andrews, S.
DOI: 10.1016/j.ymgmr.2021.100763
2021

C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation
Journal of Clinical Investigation
Lausberg, E. and Gie{\ss}elmann, S. and Dewulf, J.P. and Wiame, E. and Holz, A. and Salvarinova, R. and van Karnebeek, C.D. and Klemm, P. and Ohl, K. and Mull, M. and Braunschweig, T. and Weis, J. and Sommer, C.J. and Demuth, S. and Haase, C. and Stollbrink-Peschgens, C. and Debray, F.-G. and Libioulle, C. and Choukair, D. and Oommen, P.T. and Borkhardt, A. and Surowy, H. and Wieczorek, D. and Wagner, N. and Meyer, R. and Eggermann, T. and Begemann, M. and van Schaftingen, E. and H{\"a}usler, M. and Tenbrock, K. and van den Heuvel, L. and Elbracht, M. and Kurth, I. and Kraft, F.
DOI: 10.1172/JCI143078
2021

Long term follow-up of the dietary intake in propionic acidemia
Molecular Genetics and Metabolism Reports
Mobarak, A. and Stockler, S. and Salvarinova, R. and Van Karnebeek, C. and Horvath, G.
DOI: 10.1016/j.ymgmr.2021.100757
2021

A human multisystem disorder with autoinflammation, leukoencephalopathy and hepatopathy is caused by mutations in C2orf69
medRxiv
Lausberg, E. and Gie{\ss}elmann, S. and Dewulf, J.P. and Wiame, E. and Holz, A. and Salvarinova, R. and Van Karnebeek, C. and Klemm, P. and Ohl, K. and Mull, M. and Braunschweig, T. and Weis, J. and Sommer, C. and Demuth, S. and Haase, C. and Debray, F.-G. and Libioulle, C. and Choukair, D. and Oommen, P.T. and Borkhardt, A. and Surowy, H. and Wieczorek, D. and Meyer, R. and Eggermann, T. and Begemann, M. and Van Schaftingen, E. and H{\"a}usler, M. and Tenbrock, K. and Van den Heuvel, L. and Elbracht, M. and Kurth, I. and Kraft, F.
DOI: 10.1101/2021.03.08.21252805
2021

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum
Frontiers in Neurology
den Hollander, B. and Rasing, A. and Post, M.A. and Klein, W.M. and Oud, M.M. and Brands, M.M. and de Boer, L. and Engelke, U.F.H. and van Essen, P. and Fuchs, S.A. and Haaxma, C.A. and Jensson, B.O. and Kluijtmans, L.A.J. and Lengyel, A. and Lichtenbelt, K.D. and ?stergaard, E. and Peters, G. and Salvarinova, R. and Simon, M.E.H. and Stefansson, K. and Thorarensen, ?. and Ulmen, U. and Coene, K.L.M. and Willemsen, M.A. and Lefeber, D.J. and Karnebeek, C.D.M.V.
DOI: 10.3389/fneur.2021.668640
2021

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
Orphanet journal of rare diseases
Tingley K and Lamoureux M and Pugliese M and Geraghty MT and Kronick JB and Potter BK and Coyle D and Wilson K and Kowalski M and Austin V and Brunel-Guitton C and Buhas D and Chan AKJ and Canadian Inherited Metabolic Diseases Research Network
DOI: 10.1186/s13023-020-01358-z
PubMed: 32276663
04/2020

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.
Genetics in medicine : official journal of the American College of Medical Genetics
Witters P and Tahata S and Barone R and Õunap K and Salvarinova R and Grønborg S and Hoganson G and Scaglia F and Lewis AM and Mori M and Sykut-Cegielska J and Edmondson A and He M and Morava E
DOI: 10.1038/s41436-020-0767-8
PubMed: 32103184
02/2020

Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency
Neuropediatrics
Micallef, J. and Stockler-Ipsiroglu, S. and Van Karnebeek, C.D. and Salvarinova-Zivkovic, R. and Horvath, G.
DOI: 10.1055/s-0039-3402010
2020

Vitreous Changes in Gaucher Disease Type 3
Ophthalmology
Promelle, V. and Salvarinova, R. and Lyons, C.J.
DOI: 10.1016/j.ophtha.2020.02.019
2020

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Frontiers in neurology
Demos M and Guella I and DeGuzman C and McKenzie MB and Buerki SE and Evans DM and Toyota EB and Boelman C and Huh LL and Datta A and Michoulas A and Selby K and Bjornson BH and Horvath G and Farrer MJ
DOI: 10.3389/fneur.2019.00434
PubMed: 31164858
05/2019

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
Journal of inherited metabolic disease
Vals MA and Ashikov A and Ilves P and Loorits D and Zeng Q and Barone R and Huijben K and Sykut-Cegielska J and Diogo L and Elias AF and Greenwood RS and Grunewald S and van Hasselt PM and Õunap K
DOI: 10.1002/jimd.12055
PubMed: 30746764
02/2019

Atypical cerebral palsy: genomics analysis enables precision medicine
Genetics in Medicine
Matthews, A.M. and Blydt-Hansen, I. and Al-Jabri, B. and Andersen, J. and Tarailo-Graovac, M. and Price, M. and Selby, K. and Demos, M. and Connolly, M. and Dr{\"o}gemoller, B. and Shyr, C. and Mwenifumbo, J. and Elliott, A.M. and Lee, J. and Ghani, A. and St{\"o}ckler, S. and Salvarinova, R. and Vallance, H. and Sinclair, G. and Ross, C.J. and Wasserman, W.W. and McKinnon, M.L. and Horvath, G.A. and Goez, H. and van Karnebeek, C.D.
DOI: 10.1038/s41436-018-0376-y
2019

The genotypic and phenotypic spectrum of MTO1 deficiency
Molecular Genetics and Metabolism
O{'}Byrne, J.J. and Tarailo-Graovac, M. and Ghani, A. and Champion, M. and Deshpande, C. and Dursun, A. and Ozgul, R.K. and Freisinger, P. and Garber, I. and Haack, T.B. and Horvath, R. and Bari?, I. and Husain, R.A. and Kluijtmans, L.A.J. and Kotzaeridou, U. and Morris, A.A. and Ross, C.J. and Santra, S. and Smeitink, J. and Tarnopolsky, M. and Wortmann, S.B. and Mayr, J.A. and Brunner-Krainz, M. and Prokisch, H. and Wasserman, W.W. and Wevers, R.A. and Engelke, U.F. and Rodenburg, R.J. and Ting, T.W. and McFarland, R. and Taylor, R.W. and Salvarinova, R. and van Karnebeek, C.D.M.
DOI: 10.1016/j.ymgme.2017.11.003
2018

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
American journal of human genetics
Lehman A and Thouta S and Mancini GMS and Naidu S and van Slegtenhorst M and McWalter K and Person R and Mwenifumbo J and Salvarinova R and CAUSES Study and EPGEN Study and Guella I and Claydon T
DOI: 10.1016/j.ajhg.2017.05.016
PubMed: 28669405
06/2017

Response to Newman et al
Genetics in medicine : official journal of the American College of Medical Genetics
Parikh, S. and Goldstein, A. and Karaa, A. and Koenig, M.K. and Anselm, I. and Brunel-Guitton, C. and Christodoulou, J. and Cohen, B.H. and Dimmock, D. and Enns, G.M. and Falk, M.J. and Feigenbaum, A. and Frye, R.E. and Ganesh, J. and Griesemer, D. and Haas, R. and Horvath, R. and Korson, M. and Kruer, M.C. and Mancuso, M. and McCormack, S. and Josee Raboisson, M. and Reimschisel, T. and Salvarinova, R. and Saneto, R.P. and Scaglia, F. and Shoffner, J. and Stacpoole, P.W. and Sue, C.M. and Tarnopolsky, M. and Van Karnebeek, C. and Wolfe, L.A. and Zolkipli Cunningham, Z. and Rahman, S. and Chinnery, P.F.
DOI: 10.1038/gim.2017.164
2017

Case Report: QARS Deficiency and Favorable Outcome Following Treatment of Seizures with Ketogenic Diet
Journal of Child Neurology
Datta, A. and Ferguson, A. and Simonson, C. and Zannotto, F. and Michoulas, A. and Roland, E. and Karnebeek, C.V. and Salvarinova, R.
DOI: 10.1177/0883073816685508
2017

The indicator amino acid oxidation method with the use of l-[1-13C]leucine suggests a higher than currently recommended protein requirement in childrenwith Phenylketonuria
Journal of Nutrition
Turki, A. and Ueda, K. and Cheng, B. and Giezen, A. and Salvarinova, R. and Stockler-Ipsiroglu, S. and Elango, R.
DOI: 10.3945/jn.116.240218
2017

Diagnostic yield and treatment impact of targeted exome sequencing in early-onset epilepsy
bioRxiv
Demos, M. and Guella, I. and McKenzie, M.B. and Buerki, S.E. and Evans, D.M. and Toyota, E.B. and Boelman, C. and Huh, L.L. and Datta, A. and Michoulas, A. and Selby, K. and Bjornson, B.H. and Horvath, G. and Lopez-Rangel, E. and van Karnebeek, C.D.M. and Salvarinova, R. and Slade, E. and Eydoux, P. and Adam, S. and van Allen, M.I. and Nelson, T.N. and Bolbocean, C. and Connolly, M.B. and Farrer, M.J.
DOI: 10.1101/139329
2017

Patient care standards for primary mitochondrial disease: A consensus statement from the mitochondrial medicine society
Genetics in Medicine
Parikh, S. and Goldstein, A. and Karaa, A. and Koenig, M.K. and Anselm, I. and Brunel-Guitton, C. and Christodoulou, J. and Cohen, B.H. and Dimmock, D. and Enns, G.M. and Falk, M.J. and Feigenbaum, A. and Frye, R.E. and Ganesh, J. and Griesemer, D. and Haas, R. and Horvath, R. and Korson, M. and Kruer, M.C. and Mancuso, M. and McCormack, S. and Raboisson, M.J. and Reimschisel, T. and Salvarinova, R. and Saneto, R.P. and Scaglia, F. and Shoffner, J. and Stacpoole, P.W. and Sue, C.M. and Tarnopolsky, M. and Van Karnebeek, C. and Wolfe, L.A. and Cunningham, Z.Z. and Rahman, S. and Chinnery, P.F.
DOI: 10.1038/gim.2017.107
2017

Exome Sequencing and the Management of Neurometabolic Disorders.
The New England journal of medicine
Tarailo-Graovac M and Shyr C and Ross CJ and Horvath GA and Salvarinova R and Ye XC and Zhang LH and Bhavsar AP and Lee JJ and Drögemöller BI and Abdelsayed M and Alfadhel M and van Karnebeek CD
DOI: 10.1056/nejmoa1515792
PubMed: 27276562
05/2016

Exome sequencing and the management of neurometabolic disorders
New England Journal of Medicine
Tarailo-Graovac, M. and Shyr, C. and Ross, C.J. and Horvath, G.A. and Salvarinova, R. and Ye, X.C. and Zhang, L.-H. and Bhavsar, A.P. and Lee, J.J.Y. and Dr{\"o}gem{\"o}ller, B.I. and Abdelsayed, M. and Alfadhel, M. and Armstrong, L. and Baumgartner, M.R. and Burda, P. and Connolly, M.B. and Cameron, J. and Demos, M. and Dewan, T. and Dionne, J. and Evans, A.M. and Friedman, J.M. and Garber, I. and Lewis, S. and Ling, J. and Mandal, R. and Mattman, A. and McKinnon, M. and Michoulas, A. and Metzger, D. and Ogunbayo, O.A. and Rakic, B. and Rozmus, J. and Ruben, P. and Sayson, B. and Santra, S. and Schultz, K.R. and Selby, K. and Shekel, P. and Sirrs, S. and Skrypnyk, C. and Superti-Furga, A. and Turvey, S.E. and Van Allen, M.I. and Wishart, D. and Wu, J. and Wu, J. and Zafeiriou, D. and Kluijtmans, L. and Wevers, R.A. and Eydoux, P. and Lehman, A.M. and Vallance, H. and Stockler-Ipsiroglu, S. and Sinclair, G. and Wasserman, W.W. and Van Karnebeek, C.D.
DOI: 10.1056/NEJMoa1515792
2016

Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride
Molecular Genetics and Metabolism
Stockler-Ipsiroglu, S. and Yuskiv, N. and Salvarinova, R. and Apatean, D. and Ho, G. and Cheng, B. and Giezen, A. and Lillquist, Y. and Ueda, K.
DOI: 10.1016/j.ymgme.2014.11.014
2015

Recessive ITPA mutations cause an early infantile encephalopathy
Annals of Neurology
Kevelam, S.H. and Bierau, J. and Salvarinova, R. and Agrawal, S. and Honzik, T. and Visser, D. and Weiss, M.M. and Salomons, G.S. and Abbink, T.E.M. and Waisfisz, Q. and Van Der Knaap, M.S.
DOI: 10.1002/ana.24496
2015

Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities
Neurogenetics
Salvarinova, R. and Ye, C.X. and Rossi, A. and Biancheri, R. and Roland, E.H. and Pavlidis, P. and Ross, C.J. and Tarailo-Graovac, M. and Wasserman, W.W. and van Karnebeek, C.D.M.
DOI: 10.1007/s10048-014-0432-y
2015

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.
American journal of human genetics
van Karnebeek CD and Sly WS and Ross CJ and Salvarinova R and Yaplito-Lee J and Santra S and Shyr C and Horvath GA and Eydoux P and Lehman AM and Bernard V and Newlove T and Ukpeh H and Stockler-Ipsiroglu S
DOI: 10.1016/j.ajhg.2014.01.006
PubMed: 24530203
02/2014

Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges
Mitochondrion
Parikh, S. and Goldstein, A. and Koenig, M.K. and Scaglia, F. and Enns, G.M. and Saneto, R. and Anselm, I. and Collins, A. and Cohen, B.H. and DeBrosse, S.D. and Dimmock, D. and Falk, M.J. and Ganesh, J. and Greene, C. and Gropman, A.L. and Haas, R. and Kahler, S.G. and Kamholz, J. and Kendall, F. and Korson, M.S. and Mattman, A. and Milone, M. and Niyazov, D. and Pearl, P.L. and Reimschisel, T. and Salvarinova-Zivkovic, R. and Sims, K. and Tarnopolsky, M. and Tsao, C.-Y. and van Hove, J. and Walsh, L. and Wolfe, L.A.
DOI: 10.1016/j.mito.2013.07.116
2014

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.
European journal of human genetics : EJHG
Dias C and McDonald A and Sincan M and Rupps R and Markello T and Salvarinova R and Santos RF and Menghrajani K and Ahaghotu C and Sutherland DP and Fortuno ES and Kollmann TR and Boerkoel CF
DOI: 10.1038/ejhg.2013.20
PubMed: 23443029
02/2013

Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria
Molecular Genetics and Metabolism
Hartnett, C. and Salvarinova-Zivkovic, R. and Yap-Todos, E. and Cheng, B. and Giezen, A. and Horvath, G. and Lillquist, Y. and Vallance, H. and Stockler-Ipsiroglu, S.
DOI: 10.1016/j.ymgme.2013.01.007
2013

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy
Gene
Al-Thihli, K. and Ebrahim, H. and Hughes, D.A. and Patel, M. and Tipple, M. and Salvarinova, R. and Gardiner, J. and Vallance, H. and Waters, P.J.
DOI: 10.1016/j.gene.2012.01.056
2012

The use of parenteral nutrition for the management of PKU patient undergoing chemotherapy for lymphoma: A case report
Molecular Genetics and Metabolism
Salvarinova-Zivkovic, R. and Hartnett, C. and Sinclair, G. and Dix, D. and Horvath, G. and Lillquist, Y. and Stockler-Ipsiroglu, S.
DOI: 10.1016/j.ymgme.2012.01.007
2012

Mitochondrial disease clinical manifestations: An overview
British Columbia Medical Journal
Mattman, A. and Jarvis-Selinger, S. and Mezei, M.M. and Salvarinova-Zivkovic, R. and Alfadhel, M. and Lillquist, Y.
2011

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms
Molecular Genetics and Metabolism
Horvath, G.A. and Stockler-Ipsiroglu, S.G. and Salvarinova-Zivkovic, R. and Lillquist, Y.P. and Connolly, M. and Hyland, K. and Blau, N. and Rupar, T. and Waters, P.J.
DOI: 10.1016/j.ymgme.2008.01.003
2008