| 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 | 315 | 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 | 261 | 2019 |
| Jagged1 mutations in patients ascertained with isolated congenital heart defects ID Krantz, R Smith, RP Colliton, H Tinkel, EH Zackai, DA Piccoli, ... American journal of medical genetics 84 (1), 56-60, 1999 | 190 | 1999 |
| Cardiolipin, mitochondria, and neurological disease M Falabella, HJ Vernon, MG Hanna, SM Claypool, RDS Pitceathly Trends in Endocrinology & Metabolism 32 (4), 224-237, 2021 | 188 | 2021 |
| Inborn errors of metabolism: advances in diagnosis and therapy HJ Vernon JAMA pediatrics 169 (8), 778-782, 2015 | 160 | 2015 |
| 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 | 122 | 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 | 121 | 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 | 90 | 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 | 72 | 2015 |
| Barth syndrome C Ferreira, G Pierre, R Thompson, H Vernon | 68 | 2020 |
| 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 | 65 | 2018 |
| 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 | 61 | 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 | 61 | 2018 |
| 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 | 60 | 2010 |
| 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 | 57 | 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 | 56 | 2015 |
| 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 | 56 | 2014 |
| 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 | 51 | 2019 |
| Clinical laboratory studies in Barth syndrome HJ Vernon, Y Sandlers, R McClellan, RI Kelley Molecular genetics and metabolism 112 (2), 143-147, 2014 | 49 | 2014 |
| 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 | 48 | 2015 |
