Publications by authors named "Sumit Parikh"

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North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition 2025 guidelines on the diagnosis of cyclic vomiting syndrome in children.
Katja Karrento, John M Rosen, Amy A Gelfand, Sumit Parikh, Sally E Tarbell

J Pediatr Gastroenterol Nutr· November 2025

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The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, Rebecca Ganetzky, René G Feichtinger, Sumit Parikh

Brain· November 2025

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Signs, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectives.
Paolo Medrano, Benjamin Banderas, Marisa Brimmer, Lily Settel, Sari Berger, Sumit Parikh

J Patient Rep Outcomes· October 2025

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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, Robert M Issenman, Amy A Gelfand, Sumit Parikh

J Pediatr Gastroenterol Nutr· June 2025

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Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.
Alina Ivaniuk, Irina A Anselm, Aaron Bowen, Bruce H Cohen, Fatma Tuba Eminoglu, Sumit Parikh

Neurology· February 2025

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Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.
Amel Karaa, Enrico Bertini, Valerio Carelli, Bruce Cohen, Gregory M Ennes, Sumit Parikh

Orphanet J Rare Dis· November 2024

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Case report: severe hypertrophic cardiomyopathy in a female neonate caused by variant in .
Javeria Tariq, Madeleine Townsend, Sumit Parikh, Jeffrey Bennett

Eur Heart J Case Rep· August 2024

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Exploring the neurological features of individuals with germline PTEN variants: A multicenter study.
Andrew Dhawan, Sarah Baitamouni, Darren Liu, Robyn Busch, Patricia Klaas, Sumit Parikh

Ann Clin Transl Neurol· May 2024

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Intraindividual bleeding outcomes in patients with hemophilia A on emicizumab prophylaxis in Australia.
Radha Ramanan, Sumit Parikh, Lwin Lwin Aung, James D McFadyen, Huyen A Tran

Blood Vessel Thromb Hemost· March 2024

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Registry-derived stage (RD-Stage) for capturing stage at diagnosis for pancreatic carcinoma in Australia.
Sue M Evans, Kris Ivanova, Danca Cossio, Charles H C Pilgrim, Daniel Croagh, Sumit Parikh

PLoS One· January 2024

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Successful cord blood transplantation for del7q myelodysplastic syndrome in Pearson marrow pancreas syndrome.
Zacharia H Belgacem, Sonia M Dubois, Elad Jacoby, Paul L Martin, Sumit B Parikh

Am J Hematol· December 2023

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Navigating Life With Primary Mitochondrial Myopathies: The Importance of the Patient Voice and Implications for Clinical Practice.
Margaret Moore, Philip Yeske, Sumit Parikh

J Prim Care Community Health· November 2023

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Conduction defects in pediatric patients with Pearson syndrome: When to pace?
Saneeha Shahid, Iqbal El Assaad, Akash Patel, Sumit Parikh, Peter F Aziz

Heart Rhythm· October 2023

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Evaluation of treatment and outcome for patients with haemophilia A and haemophilia B on extended half-life (EHL) factor products: A 12-month data analysis.
Carly George, Sumit Parikh, Tina Carter, Joanna Mccosker, Sara Carlino

Haemophilia· September 2023

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Understanding the impact of pediatric single large-scale mtDNA deletion syndromes on caregivers: Burdens and challenges.
McKenzie Chappell, Sumit Parikh, Elizabeth Reynolds

JIMD Rep· September 2023

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Epilepsy with eyelid myoclonia in the setting of de novo pathogenic variant in ATP1A3.
Maksim Parfyonov, Alina Ivaniuk, Sumit Parikh, Elia Pestana-Knight

Epileptic Disord· August 2023

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Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.
Amel Karaa, Enrico Bertini, Valerio Carelli, Bruce H Cohen, Gregory M Enns, Sumit Parikh

Neurology· July 2023

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Haemophilia joint health score (HJHS) usage, patterns and outcome data in patients with haemophilia A and haemophilia B in Australia: A descriptive study using the Australian Bleeding Disorders Registry (ABDR).
Carly George, Sumit Parikh, Tina Carter, Alison Morris, Cameron Cramey

Haemophilia· July 2023

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Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells.
Caleb A Lareau, Sonia M Dubois, Frank A Buquicchio, Yu-Hsin Hsieh, Kopal Garg, Sumit Parikh

Nat Genet· July 2023

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Currently available therapies in mitochondrial disease.
Cornelia Kornblum, Costanza Lamperti, Sumit Parikh

Handb Clin Neurol· February 2023

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Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
Dianalee McKnight, Ana Morales, Kathryn E Hatchell, Sara L Bristow, Joshua L Bonkowsky, Sumit Parikh

JAMA Neurol· December 2022

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Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain.
Debora Tibbe, Pia Ferle, Christoph Krisp, Sheela Nampoothiri, Ghayda Mirzaa, Sumit Parikh

Life Sci Alliance· October 2022

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Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.
Amel Karaa, Laura E MacMullen, John C Campbell, John Christodoulou, Bruce H Cohen, Sumit Parikh

Adv Genet (Hoboken)· March 2022

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The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Smitha Kumble, Amanda M Levy, Jaya Punetha, Hua Gao, Nicholas Ah Mew, Sumit Parikh

Hum Mutat· February 2022

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Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes.
Elizabeth Reynolds, Matthew Byrne, Rebecca Ganetzky, Sumit Parikh

Mol Genet Metab· December 2021

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