Phenotypic heterogeneity of genomic disorders and rare copy-number variants S Girirajan, JA Rosenfeld, BP Coe, S Parikh, N Friedman, A Goldstein, ... New England Journal of Medicine 367 (14), 1321-1331, 2012 | 613 | 2012 |
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society S Parikh, A Goldstein, MK Koenig, F Scaglia, GM Enns, R Saneto, ... Genetics in Medicine 17 (9), 689-701, 2015 | 558 | 2015 |
The in-depth evaluation of suspected mitochondrial disease TMMS Committee, RH Haas, S Parikh, MJ Falk, RP Saneto, NI Wolf, ... Molecular genetics and metabolism 94 (1), 16-37, 2008 | 448 | 2008 |
A modern approach to the treatment of mitochondrial disease S Parikh, R Saneto, MJ Falk, I Anselm, BH Cohen, R Haas, ... Current treatment options in neurology 11 (6), 414-430, 2009 | 391 | 2009 |
Mitochondrial disease: a practical approach for primary care physicians RH Haas, S Parikh, MJ Falk, RP Saneto, NI Wolf, N Darin, BH Cohen Pediatrics 120 (6), 1326-1333, 2007 | 336 | 2007 |
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society S Parikh, A Goldstein, A Karaa, MK Koenig, I Anselm, C Brunel-Guitton, ... Genetics in Medicine 19 (12), 1380-1397, 2017 | 284 | 2017 |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies S Parikh, G Bernard, RJ Leventer, MS van der Knaap, J van Hove, ... Molecular genetics and metabolism 114 (4), 501-515, 2015 | 199 | 2015 |
An international classification of inherited metabolic disorders (ICIMD) CR Ferreira, S Rahman, M Keller, J Zschocke, ICIMD Advisory Group, ... Journal of inherited metabolic disease 44 (1), 164-177, 2021 | 164 | 2021 |
Development and validation of objective and quantitative eye tracking− based measures of autism risk and symptom levels TW Frazier, EW Klingemier, S Parikh, L Speer, MS Strauss, C Eng, ... Journal of the American Academy of Child & Adolescent Psychiatry 57 (11 …, 2018 | 155 | 2018 |
Whole exome sequencing in patients with white matter abnormalities A Vanderver, C Simons, G Helman, J Crawford, NI Wolf, G Bernard, ... Annals of neurology 79 (6), 1031-1037, 2016 | 147 | 2016 |
Recommendations for the management of strokelike episodes in patients with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes MK Koenig, L Emrick, A Karaa, M Korson, F Scaglia, S Parikh, A Goldstein JAMA neurology 73 (5), 591-594, 2016 | 123 | 2016 |
Treatment of mitochondrial disorders S Avula, S Parikh, S Demarest, J Kurz, A Gropman Current treatment options in neurology 16, 1-20, 2014 | 115 | 2014 |
CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development ST Demarest, HE Olson, A Moss, E PestanaKnight, X Zhang, S Parikh, ... Epilepsia 60 (8), 1733-1742, 2019 | 114 | 2019 |
Implementation of clinical pharmacogenomics within a large health system: from electronic health record decision support to consultation services JK Hicks, D Stowe, MA Willner, M Wai, T Daly, SM Gordon, BA Lashner, ... Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy 36 (8 …, 2016 | 111 | 2016 |
Efficacy of low-dose buspirone for restricted and repetitive behavior in young children with autism spectrum disorder: a randomized trial DC Chugani, HT Chugani, M Wiznitzer, S Parikh, PA Evans, RL Hansen, ... The Journal of pediatrics 170, 45-53. e4, 2016 | 110 | 2016 |
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy JL Wagnon, BS Barker, JA Hounshell, CA Haaxma, A Shealy, T Moss, ... Annals of clinical and translational neurology 3 (2), 114-123, 2016 | 107 | 2016 |
Development of an objective autism risk index using remote eye tracking TW Frazier, EW Klingemier, M Beukemann, L Speer, L Markowitz, ... Journal of the American Academy of Child & Adolescent Psychiatry 55 (4), 301-309, 2016 | 82 | 2016 |
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation VA Gennarino, CE Alcott, CA Chen, A Chaudhury, MA Gillentine, ... Elife 4, e10782, 2015 | 78 | 2015 |
The minimal access deep plane extended vertical facelift AA Jacono, SS Parikh Aesthetic Surgery Journal 31 (8), 874-890, 2011 | 74 | 2011 |
Frequency analysis of large CAG/CTG trinucleotide repeats in schizophrenia and bipolar affective disorder. JB Vincent, T Klempan, SS Parikh, T Sasaki, HY Meltzer, G Sirugo, P Cola, ... Molecular psychiatry 1 (2), 141-148, 1996 | 72 | 1996 |