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Author/Creator Parikh, Sumit

4. Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease. Issue 11 (18th October 2021)

Authors:
Hikmat, Omar; Isohanni, Pirjo; Keshavan, Nandaki; Ferla, Matteo P.; Fassone, Elisa; Abbott, Mary‐Alice; Bellusci, Marcello; Darin, Niklas; Dimmock, David; Ghezzi, Daniele; Houlden, Henry; Invernizzi, Federica; Kamarus Jaman, Nazreen B.; Kurian, Manju A.; Morava, Eva; Naess, Karin; Ortigoza‐Escoba...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 8:Issue 11(2021)
Page Start:
2155
Record Type:
Journal Article
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5. Diagnosis of 'possible' mitochondrial disease: an existential crisis. Issue 3 (25th January 2019)

Authors:
Parikh, Sumit; Karaa, Amel; Goldstein, Amy; Bertini, Enrico Silvio; Chinnery, Patrick F; Christodoulou, John; Cohen, Bruce H; Davis, Ryan L; Falk, Marni J; Fratter, Carl; Horvath, Rita; Koenig, Mary Kay; Mancuso, Michaelangelo; McCormack, Shana; McCormick, Elizabeth M; McFarland, Robert; Nesbitt,...
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 3(2019)
Page Start:
123
Record Type:
Journal Article
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6. Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum. Issue 1 (7th October 2020)

Authors:
Crow, Yanick J; Marshall, Heather; Rice, Gillian I; Seabra, Luis; Jenkinson, Emma M; Baranano, Kristin; Battini, Roberta; Berger, Andrea; Blair, Edward; Blauwblomme, Thomas; Bolduc, Francois; Boddaert, Natalie; Buckard, Johannes; Burnett, Heather; Calvert, Sophie; Caumes, Roseline; Ng, Andy Cheuk...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 1(2021)
Page Start:
15
Record Type:
Journal Article
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7. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Issue 2 (11th December 2021)

Authors:
Kumble, Smitha; Levy, Amanda M.; Punetha, Jaya; Gao, Hua; Ah Mew, Nicholas; Anyane‐Yeboa, Kwame; Benke, Paul J.; Berger, Sara M.; Bjerglund, Lise; Campos‐Xavier, Belinda; Ciliberto, Michael; Cohen, Julie S.; Comi, Anne M.; Curry, Cynthia; Damaj, Lena; Denommé‐Pichon, Anne‐Sophie; Emrick, Lisa; Fa...
Journal:
Human mutation
Issue:
Volume 43:Issue 2(2022)
Page Start:
266
Record Type:
Journal Article
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8. Implementation of Clinical Pharmacogenomics within a Large Health System: From Electronic Health Record Decision Support to Consultation Services. Issue 8 (20th July 2016)

Authors:
Hicks, J. Kevin; Stowe, David; Willner, Marc A.; Wai, Maya; Daly, Thomas; Gordon, Steven M.; Lashner, Bret A.; Parikh, Sumit; White, Robert; Teng, Kathryn; Moss, Timothy; Erwin, Angelika; Chalmers, Jeffrey; Eng, Charis; Knoer, Scott
Journal:
Pharmacotherapy
Issue:
Volume 36:Issue 8(2016)
Page Start:
940
Record Type:
Journal Article
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9. Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor. Issue 6 (15th April 2021)

Authors:
Webb, Bryn D.; Evans, Anthony; Naidich, Thomas P.; Bird, Lynne M.; Parikh, Sumit; Fernandez Garcia, Meilin; Henderson, Lindsay B.; Millan, Francisca; Si, Yue; Brennand, Kristen J.; Hung, Peter; Rucker, Janet C.; Wheeler, Patricia G.; Schadt, Eric E.
Journal:
Human mutation
Issue:
Volume 42:Issue 6(2021)
Page Start:
685
Record Type:
Journal Article
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10. Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease. Issue 1 (19th December 2021)

Authors:
Karaa, Amel; MacMullen, Laura E.; Campbell, John C.; Christodoulou, John; Cohen, Bruce H.; Klopstock, Thomas; Koga, Yasutoshi; Lamperti, Costanza; van Maanen, Rob; McFarland, Robert; Parikh, Sumit; Rahman, Shamima; Scaglia, Fernando; Sherman, Alexander V.; Yeske, Philip; Falk, Marni J.
Journal:
Advanced genetics
Issue:
Volume 3:Issue 1(2022)
Page Start:
n/a
Record Type:
Journal Article
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