| Clinical whole exome sequencing in child neurology practice S Srivastava, JS Cohen, H Vernon, K Barañano, R McClellan, L Jamal, ... Annals of neurology 76 (4), 473-483, 2014 | 306 | 2014 |
| Reanalysis of clinical exome sequencing data P Liu, L Meng, EA Normand, F Xia, X Song, A Ghazi, J Rosenfeld, ... New England Journal of Medicine 380 (25), 2478-2480, 2019 | 221 | 2019 |
| Jagged1 mutations in patients ascertained with isolated congenital heart defects. SNB Krantz ID, Smith R, Colliton RP, Tinkel H, Zackai EH, Piccoli DA ... American Journal of Medical Genetics 84 (1), 56-60, 1999 | 188 | 1999 |
| Inborn errors of metabolism: advances in diagnosis and therapy HJ Vernon JAMA pediatrics 169 (8), 778-782, 2015 | 149 | 2015 |
| Cardiolipin, mitochondria, and neurological disease M Falabella, HJ Vernon, MG Hanna, SM Claypool, RDS Pitceathly Trends in Endocrinology & Metabolism 32 (4), 224-237, 2021 | 137 | 2021 |
| A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome JS Benjamin, GO Pilarowski, GA Carosso, L Zhang, DL Huso, LA Goff, ... Proceedings of the National Academy of Sciences 114 (1), 125-130, 2017 | 112 | 2017 |
| Unlocking the secrets of mitochondria in the cardiovascular system: path to a cure in heart failure—a report from the 2018 National Heart, Lung, and Blood Institute Workshop R Tian, WS Colucci, Z Arany, MM Bachschmid, SW Ballinger, S Boudina, ... Circulation 140 (14), 1205-1216, 2019 | 105 | 2019 |
| A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial … WR Thompson, B Hornby, R Manuel, E Bradley, J Laux, J Carr, ... Genetics in Medicine 23 (3), 471-478, 2021 | 71 | 2021 |
| De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly Y Ye, MT Cho, K Retterer, N Alexander, T Ben-Omran, M Al-Mureikhi, ... Molecular Case Studies 1 (1), a000455, 2015 | 67 | 2015 |
| Barth syndrome C Ferreira, G Pierre, R Thompson, H Vernon | 60 | 2020 |
| Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria HJ Vernon, CB Koerner, MR Johnson, A Bergner, A Hamosh Molecular genetics and metabolism 100 (3), 229-233, 2010 | 58 | 2010 |
| FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia I Manoli, JR Sysol, MW Epping, L Li, C Wang, JL Sloan, A Pass, J Gagné, ... JCI insight 3 (23), 2018 | 57 | 2018 |
| Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome YA Zarate, CL Smith‐Hicks, C Greene, MA Abbott, VM Siu, ... American Journal of Medical Genetics Part A 176 (4), 925-935, 2018 | 57 | 2018 |
| Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability GO Pilarowski, HJ Vernon, CD Applegate, L Boukas, MT Cho, CA Gurnett, ... Journal of medical genetics 55 (8), 561-566, 2018 | 56 | 2018 |
| A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut 0 methylmalonic acidemia HJ Vernon, CJ Sperati, JD King, A Poretti, NR Miller, JL Sloan, ... Journal of inherited metabolic disease 37, 899-907, 2014 | 53 | 2014 |
| Hypoxia tolerance in the Norrin-deficient retina and the chronically hypoxic brain studied at single-cell resolution JS Heng, A Rattner, GL Stein-O’Brien, BL Winer, BW Jones, HJ Vernon, ... Proceedings of the National Academy of Sciences 116 (18), 9103-9114, 2019 | 50 | 2019 |
| WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11. 23 microdeletion … C DeSanto, K D'Aco, GC Araujo, N Shannon, H Vernon, A Rahrig, ... Journal of medical genetics 52 (11), 754-761, 2015 | 49 | 2015 |
| Mutations in FARS2 and non‐fatal mitochondrial dysfunction in two siblings HJ Vernon, R McClellan, DAS Batista, S Naidu American Journal of Medical Genetics Part A 167 (5), 1147-1151, 2015 | 45 | 2015 |
| Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging KD Pavuluri, I Manoli, A Pass, Y Li, HJ Vernon, CP Venditti, MT McMahon Science advances 5 (8), eaaw8357, 2019 | 44 | 2019 |
| Clinical laboratory studies in Barth syndrome HJ Vernon, Y Sandlers, R McClellan, RI Kelley Molecular genetics and metabolism 112 (2), 143-147, 2014 | 44 | 2014 |
