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R. Salvarinova · SciRah

Researcher profile · Semantic Scholar

R. Salvarinova

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R. Salvarinova — researcher profile on SciRah

h-index: 15
Works: 39
Citations: 1,053

Most-cited papers

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
S. Parikh, A. Goldstein, A. Karaa, M. Koenig +31 more
2017Genetics in Medicine294 citations Open access
Semantic Scholar
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.
C. van Karnebeek, W. Sly, C. Ross, R. Salvarinova +22 more
2014American Journal of Human Genetics108 citations Open access
Semantic Scholar
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy
M. Demos, I. Guella, C. DeGuzman, M. McKenzie +21 more
2017bioRxiv96 citations Open access
Semantic Scholar
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
A. Lehman, Samrat Thouta, G. Mancini, S. Naidu +36 more
2017American Journal of Human Genetics92 citations Open access
Semantic Scholar
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG
P. Witters, Shawn Tahata, R. Barone, K. Õunap +10 more
2020Genetics in Medicine72 citations Open access
Semantic Scholar
Atypical cerebral palsy: genomics analysis enables precision medicine
A. Matthews, I. Blydt-Hansen, B. Al-Jabri, J. Andersen +21 more
2018Genetics in Medicine54 citations Open access
Semantic Scholar
Recessive ITPA mutations cause an early infantile encephalopathy
Sietske H. G. Kevelam, J. Bierau, R. Salvarinova, S. Agrawal +7 more
2015Annals of Neurology53 citations Open access
Semantic Scholar
Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients
M. Vals, A. Ashikov, P. Ilves, D. Loorits +22 more
2019Journal of Inherited Metabolic Disease48 citations Open access
Semantic Scholar
The genotypic and phenotypic spectrum of MTO1 deficiency
J. O'Byrne, M. Tarailo-Graovac, A. Ghani, M. Champion +29 more
2018Molecular Genetics and Metabolism34 citations Open access
Semantic Scholar
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
Alison M. Elliott, S. Adam, C. du Souich, A. Lehman +47 more
2022HGG advances26 citations Open access
Semantic Scholar
De novo variants in ATP2B1 lead to neurodevelopmental delay.
Meer Jacob Rahimi, Nicole Urban, Meret Wegler, H. Sticht +32 more
2022American Journal of Human Genetics22 citations Open access
Semantic Scholar
Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities
R. Salvarinova, Cynthia X. Ye, A. Rossi, R. Biancheri +6 more
2015Neurogenetics21 citations Open access
Semantic Scholar
Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation
C. Dias, A. McDonald, Murat Sincan, R. Rupps +13 more
2013European Journal of Human Genetics21 citations Open access
Semantic Scholar
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum
B. den Hollander, A. Rasing, M. A. Post, W. Klein +22 more
2021Frontiers in Neurology18 citations Open access
Semantic Scholar
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
E. Lausberg, Sebastian Giesselmann, J. Dewulf, Elsa Wiame +30 more
2021Journal of Clinical Investigation18 citations Open access
Semantic Scholar
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
Kylie Tingley, Monica Lamoureux, Michael Pugliese, M. Geraghty +51 more
2020Orphanet Journal of Rare Diseases12 citations Open access
Semantic Scholar
The Indicator Amino Acid Oxidation Method with the Use of l-[1-13C]Leucine Suggests a Higher than Currently Recommended Protein Requirement in Children with Phenylketonuria.
Abrar Turki, K. Ueda, B. Cheng, Alette Giezen +3 more
2017Journal of NutriLife12 citations Open access
Semantic Scholar
Long term follow-up of the dietary intake in propionic acidemia
A. Mobarak, S. Stockler, R. Salvarinova, C. van Karnebeek +1 more
2021Molecular Genetics and Metabolism Reports10 citations Open access
Semantic Scholar
Hyperleucinosis during infections in maple syrup urine disease post liver transplantation
L. Guilder, C. Prada, S. Sáenz, Shailly Jain-Ghai +5 more
2021Molecular Genetics and Metabolism Reports9 citations Open access
Semantic Scholar
Case Report
A. Datta, A. Ferguson, C. Simonson, Francesca Zannotto +4 more
2010Journal of Child Neurology9 citations
Semantic Scholar
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.
S. Stöckler-Ipsiroglu, N. Yuskiv, R. Salvarinova, Delia Apatean +5 more
2015Molecular Genetics and Metabolism7 citations Open access
Semantic Scholar
A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy.
K. Al-Thihli, H. Ebrahim, D. Hughes, Millan S. Patel +5 more
2012Gene7 citations
Semantic Scholar
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
Ryan Iverson, Monica Taljaard, M. Geraghty, Michael Pugliese +46 more
2024BMC Pediatrics3 citations Open access
Semantic Scholar
Response to Newman et al.
S. Parikh, A. Goldstein, A. Karaa, M. Koenig +31 more
2017Genetics in Medicine3 citations Open access
Semantic Scholar
Immune Dysregulation in a Child With SOD1‐Related Neurological Disease
R. Boutin, Farzaneh Shobeirian, S. Adam, Anna Lehman +2 more
2024American Journal of Medical Genetics. Part A2 citations Open access
Semantic Scholar
Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency
M. Yeganeh, Kaitlin M March, Catherine Jones, Gloria Ho +6 more
2023Molecular Genetics and Metabolism Reports2 citations Open access
Semantic Scholar
Development of minimally invasive 13C-glucose breath test to examine different exogenous carbohydrate sources in patients with glycogen storage disease type Ia
Abrar Turki, S. Stockler, S. Sirrs, R. Salvarinova +5 more
2022Molecular Genetics and Metabolism Reports2 citations Open access
Semantic Scholar
A human multisystem disorder with autoinflammation, leukoencephalopathy and hepatopathy is caused by mutations in C2orf69
E. Lausberg, Sebastian Giesselmann, J. Dewulf, Elsa Wiame +28 more
2021medRxiv1 citations Open access
Semantic Scholar
Mutations in Kv7.5 Channels Associated with Intellectual Disability or Epileptic Encephalopathy
A. Lehman, Samrat Thouta, G. Mancini, M. van Slegtenhorst +16 more
20181 citations Open access
Semantic Scholar
De novo variants in ATP2B1 lead to neurodevelopmental delay.
Meer Jacob Rahimi, Nicole Urban, Meret Wegler, H. Sticht +32 more
2025American Journal of Human Genetics0 citations Open access
Semantic Scholar
Successful Intervention in an Initially Asymptomatic Patient Who Was Diagnosed With Pulmonary Alveolar Proteinosis Due to MARS1 Mutation
P. Grazioso, J. Rayment, M. Wright, R. Salvarinova +1 more
2025American Journal of Respiratory and Critical Care Medicine0 citations
Semantic Scholar
Vitreous Changes in Gaucher Disease Type 3.
V. Promelle, R. Salvarinova, C. Lyons
2020Ophthalmology (Rochester, Minn.)0 citations
Semantic Scholar
Development of Minimally Invasive 13C-Glucose Breath Test to Examine Different Dietary Therapies in Patients with Glycogen Storage Disorders
Abrar Turki, S. Stockler, S. Sirrs, R. Salvarinova +1 more
2020Current Developments in Nutrition0 citations Open access
Semantic Scholar
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG
P. Witters, Shawn Tahata, R. Barone, K. Õunap +10 more
2020Genetics in Medicine0 citations Open access
Semantic Scholar
Rapid second-tier testing for newborn screening and therapeutic monitoring of maple syrup urine disease
G. Sinclair, C. van Karnebeek, R. Salvarinova, G. Ho +5 more
20140 citations
Semantic Scholar
Is it time to consider LC–MS/MS measurement of mucopolysaccharides as the first line screening test for Sanfilippo disease?
H. Vallance, G. Sinclair, R. Salvarinova, M. Demos +3 more
20140 citations
Semantic Scholar
Methylmalonic aciduria: A common incidental finding in infants undergoing metabolic investigation
Bojana Rakić, G. Sinclair, R. Salvarinova, H. Vallance
20140 citations
Semantic Scholar
Blood phenylalanine concentrations and dietary phenylalanine tolerance in patients with PKU in response to treatment with sapropterin hydrochloride: A multidimensional approach to determine clinically meaningful outcomes
S. Stöckler-Ipsiroglu, N. Yuskiv, Delia Apatean, K. Ueda +4 more
20140 citations
Semantic Scholar
Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities
R. Salvarinova, Cynthia X. Ye, Andrea Rossi, R. Biancheri +6 more
2014Neurogenetics0 citations Open access
Semantic Scholar

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