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S. Parikh · SciRah

Researcher profile · Semantic Scholar

S. Parikh

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S. Parikh — researcher profile on SciRah

h-index: 35
Works: 133
Citations: 5,200

Most-cited papers

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
S. Parikh, A. Goldstein, M. Koenig, F. Scaglia +15 more
2014Genetics in Medicine581 citations Open access
Semantic Scholar
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
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies
S. Parikh, G. Bernard, R. Leventer, M. S. van der Knaap +10 more
2014Molecular Genetics and Metabolism170 citations Open access
Semantic Scholar
CDKL5 Deficiency Disorder: Relationship between genotype, epilepsy, cortical visual impairment and development.
S. Demarest, Heather E. Olson, Angela Moss, Elia Pestana-Knight +10 more
2019Epilepsia139 citations Open access
Semantic Scholar
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy
Jacy L. Wagnon, B. Barker, James A. Hounshell, Charlotte A. Haaxma +6 more
2015Annals of Clinical and Translational Neurology107 citations Open access
Semantic Scholar
Implementation of Clinical Pharmacogenomics within a Large Health System: From Electronic Health Record Decision Support to Consultation Services
J. K. Hicks, David Stowe, Marc Willner, Ma-Ya Wai +11 more
2016Pharmacotherapy105 citations
Semantic Scholar
Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes.
M. Koenig, Lisa T. Emrick, A. Karaa, M. Korson +3 more
2016JAMA Neurology105 citations
Semantic Scholar
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice
D. McKnight, A. Morales, K. Hatchell, S. Bristow +121 more
2022JAMA Neurology81 citations Open access
Semantic Scholar
Efficacy of Low-Dose Buspirone for Restricted and Repetitive Behavior in Young Children with Autism Spectrum Disorder: A Randomized Trial.
D. Chugani, H. Chugani, M. Wiznitzer, S. Parikh +12 more
2016Jornal de Pediatria80 citations Open access
Semantic Scholar
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation
Vincenzo A. Gennarino, Callison E Alcott, Chun-An Chen, A. Chaudhury +13 more
2015eLife78 citations Open access
Semantic Scholar
Development of an Objective Autism Risk Index Using Remote Eye Tracking
T. Frazier, Eric W. Klingemier, M. Beukemann, Leslie L. Speer +12 more
2016Journal of the American Academy of Child and Adolescent Psychiatry76 citations Open access
Semantic Scholar
Development and Validation of Objective, Quantitative, Eye Tracking-Based Measures of Autism Risk and Symptom Levels
T. Frazier, Eric W. Klingemier, S. Parikh, Leslie L. Speer +4 more
2018Journal of the American Academy of Child and Adolescent Psychiatry72 citations Open access
Semantic Scholar
Solid organ transplantation in primary mitochondrial disease: Proceed with caution.
S. Parikh, A. Karaa, A. Goldstein, Y. Ng +16 more
2016Molecular Genetics and Metabolism71 citations Open access
Semantic Scholar
Severity Assessment in CDKL5 Deficiency Disorder
S. Demarest, Elia M. Pestana-Knight, H. Olson, J. Downs +19 more
2019Pediatric Neurology67 citations Open access
Semantic Scholar
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies
L. Adang, O. Sherbini, Laura Ball, M. Bloom +37 more
2017Molecular Genetics and Metabolism61 citations Open access
Semantic Scholar
Treatment of Mitochondrial Disorders
S. Avula, S. Parikh, S. Demarest, J. Kurz +1 more
2014Current Treatment Options in Neurology60 citations Open access
Semantic Scholar
Expert panel curation of 113 primary mitochondrial disease genes for the Leigh syndrome spectrum
E. McCormick, Kierstin N. Keller, Julie Taylor, A. Coffey +43 more
2023Annals of Neurology59 citations Open access
Semantic Scholar
DLG4-related synaptopathy: a new rare brain disorder
A. Rodríguez-Palmero, Melissa M. Boerrigter, D. Gómez-Andrés, K. Aldinger +82 more
2021Genetics in Medicine54 citations Open access
Semantic Scholar
Diagnosis of ‘possible’ mitochondrial disease: an existential crisis
S. Parikh, A. Karaa, A. Goldstein, E. Bertini +21 more
2019Journal of Medical Genetics51 citations Open access
Semantic Scholar
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy
A. Karaa, E. Bertini, V. Carelli, Bruce H. Cohen +28 more
2023Neurology50 citations Open access
Semantic Scholar
Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells
C. Lareau, Sonia M Dubois, Frank A Buquicchio, Yu-Hsin Hsieh +26 more
2023Nature Genetics49 citations Open access
Semantic Scholar
Nutritional Interventions in Primary Mitochondrial Disorders: Developing an Evidence Base
Kathryn M. Camp, D. Krotoski, Melissa A. Parisi, K. Gwinn +25 more
2016Molecular Genetics and Metabolism49 citations Open access
Semantic Scholar
Ophthalmological findings in 74 patients with mitochondrial disease
Cheng-Cheng Zhu, E. Traboulsi, S. Parikh
2017Ophthalmic Genetics40 citations
Semantic Scholar
The Australian experience with switching to extended half‐life factor VIII and IX concentrates: On behalf of the Australian Haemophilia Centre Directors' Organisation
Y. Brennan, S. Parikh, S. McRae, H. Tran
2020Haemophilia39 citations
Semantic Scholar
Approach to the diagnosis and treatment of cyclic vomiting syndrome: a large single-center experience with 106 patients.
Jonathan Moses, A. Keilman, S. Worley, Kadakkal Radhakrishnan +2 more
2014Pediatric Neurology39 citations
Semantic Scholar
Mitochondrial diseases in North America
E. Barca, Yuelin Long, V. Cooley, R. Schoenaker +31 more
2020Neurology: Genetics36 citations Open access
Semantic Scholar
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.
S. Parikh, A. Goldstein, M. Koenig, F. Scaglia +28 more
2014Mitochondrion (Amsterdam. Print)35 citations
Semantic Scholar
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop
S. Koene, L. van Bon, E. Bertini, Cecilia Jimenez-Moreno +9 more
2018Journal of Inherited Metabolic Disease32 citations Open access
Semantic Scholar
Evidence-Based Decision Support for Neurological Diagnosis Reduces Errors and Unnecessary Workup
Michael M. Segal, Marc S. Williams, A. Gropman, Alcy R. Torres +10 more
2013Journal of Child Neurology32 citations Open access
Semantic Scholar
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum
Y. Crow, Heather Marshall, G. Rice, L. Seabra +64 more
2020American Journal of Medical Genetics. Part A28 citations Open access
Semantic Scholar
Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis
Kellan Weston, Xiaoyi Gao, Jing-Han Zhao, Kwang-Soo Kim +9 more
2021Nature Communications27 citations Open access
Semantic Scholar
Fatigue in primary genetic mitochondrial disease: No rest for the weary.
S. Parikh, R. Galioto, B. Lapin, R. Haas +6 more
2019Neuromuscular Disorders25 citations
Semantic Scholar
Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease
O. Hikmat, P. Isohanni, Nandaki Keshavan, Matteo P. Ferla +23 more
2021Annals of Clinical and Translational Neurology24 citations Open access
Semantic Scholar
Mitochondrial Disease Patients’ Perception of Dietary Supplements’ Use
A. Karaa, Joshua Kriger, Johnston Grier, A. Holbert +3 more
2016Molecular Genetics and Metabolism24 citations Open access
Semantic Scholar
Migraine Variants or Episodic Syndromes That May Be Associated With Migraine and Other Unusual Pediatric Headache Syndromes
A. Rothner, S. Parikh
2016Headache22 citations
Semantic Scholar
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
Smitha Kumble, Amanda M. Levy, J. Punetha, Hua Gao +55 more
2021Human Mutation21 citations Open access
Semantic Scholar
Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects
J. Bedoyan, R. Hage, Ha Kyung Shin, S. Linard +12 more
2020JIMD Reports21 citations Open access
Semantic Scholar
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
A. Guimier, M. T. Achleitner, Anne Moreau de Bellaing, M. Edwards +56 more
2021Genetics in Medicine20 citations Open access
Semantic Scholar
Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes.
Elizabeth Reynolds, M. Byrne, R. Ganetzky, S. Parikh
2021Molecular Genetics and Metabolism20 citations
Semantic Scholar
North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition 2025 guidelines for management of cyclic vomiting syndrome in children.
Katja Karrento, John M. Rosen, Sally E. Tarbell, R. Issenman +6 more
2025Journal of Pediatric Gastroenterology and Nutrition - JPGN19 citations
Semantic Scholar
Mitochondrial DNA A3243G Variant Associated Retinopathy: Current Perspectives & Clinical Implications.
R. Coussa, S. Parikh, E. Traboulsi
2021Survey of ophthalmology19 citations
Semantic Scholar
Australian multicentre study of current real‐world prophylaxis practice in severe and moderate haemophilia A and B
J. Mason, S. Parikh, H. Tran, J. Rowell +1 more
2018Haemophilia19 citations
Semantic Scholar
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum
V. Kimonis, Rehab Al Dubaisi, Andrew E. Maclean, Katherine Hall +18 more
2020Journal of Medical Genetics18 citations Open access
Semantic Scholar
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project
A. Karaa, S. Rahman, A. Lombès, P. Yu-Wai-Man +16 more
2017Journal of Inherited Metabolic Disease18 citations Open access
Semantic Scholar
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial
A. Karaa, Enrico Bertini, V. Carelli, Bruce H. Cohen +30 more
2024Orphanet Journal of Rare Diseases14 citations Open access
Semantic Scholar
Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain
Debora Tibbe, Pia E Ferle, C. Krisp, S. Nampoothiri +5 more
2022Life Science Alliance14 citations Open access
Semantic Scholar
Exploring the neurological features of individuals with germline PTEN variants: A multicenter study
Andrew Dhawan, Sarah Baitamouni, Darren Liu, Robyn Busch +11 more
2024Annals of Clinical and Translational Neurology13 citations Open access
Semantic Scholar
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.
Jacqueline L. Steele, M. M. Morrow, H. Sarnat, Ebba Alkhunaizi +23 more
2021Pediatric Neurology13 citations Open access
Semantic Scholar
Disparities in access to anti‐vascular endothelial growth factor treatment for neovascular age‐related macular degeneration
R. Finger, Jing Xie, K. Fotis, S. Parikh +3 more
2017Clinical and Experimental Ophthalmology11 citations
Semantic Scholar
Mitochondrial disease patients' perception of dietary supplements' use
A. Karaa, J. Krieger, A. Holbert, Johnston Grier +3 more
201511 citations
Semantic Scholar

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