| 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 | 478 | 2015 |
| Preterm neonatal morbidity and mortality by gestational age: a contemporary cohort TA Manuck, MM Rice, JL Bailit, WA Grobman, UM Reddy, RJ Wapner, ... American journal of obstetrics and gynecology 215 (1), 103. e1-103. e14, 2016 | 460 | 2016 |
| 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 | 431 | 2008 |
| Return of genomic results to research participants: the floor, the ceiling, and the choices in between GP Jarvik, LM Amendola, JS Berg, K Brothers, EW Clayton, W Chung, ... The American Journal of Human Genetics 94 (6), 818-826, 2014 | 390 | 2014 |
| 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 | 371 | 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 | 329 | 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), 1380-1380, 2017 | 238 | 2017 |
| NMNAT1 mutations cause Leber congenital amaurosis MJ Falk, Q Zhang, E Nakamaru-Ogiso, C Kannabiran, Z Fonseca-Kelly, ... Nature genetics 44 (9), 1040-1045, 2012 | 203 | 2012 |
| MitoTALEN: a general approach to reduce mutant mtDNA loads and restore oxidative phosphorylation function in mitochondrial diseases M Hashimoto, SR Bacman, S Peralta, MJ Falk, A Chomyn, DC Chan, ... Molecular Therapy 23 (10), 1592-1599, 2015 | 164 | 2015 |
| Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome KM Bujakowska, Q Zhang, AM Siemiatkowska, Q Liu, E Place, MJ Falk, ... Human molecular genetics 24 (1), 230-242, 2015 | 151 | 2015 |
| GRIN2D recurrent de novo dominant mutation causes a severe epileptic encephalopathy treatable with NMDA receptor channel blockers D Li, H Yuan, XR Ortiz-Gonzalez, ED Marsh, L Tian, EM McCormick, ... The American Journal of Human Genetics 99 (4), 802-816, 2016 | 146 | 2016 |
| Mitochondrial disorders and the eye SA Schrier, MJ Falk Current opinion in ophthalmology 22 (5), 325, 2011 | 143 | 2011 |
| Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy X Gai, D Ghezzi, MA Johnson, CA Biagosch, HE Shamseldin, TB Haack, ... The American Journal of Human Genetics 93 (3), 482-495, 2013 | 141 | 2013 |
| Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy X Gai, D Ghezzi, MA Johnson, CA Biagosch, HE Shamseldin, TB Haack, ... The American Journal of Human Genetics 93 (3), 482-495, 2013 | 141 | 2013 |
| Intravenous bisphosphonate therapy in children with osteogenesis imperfecta MJ Falk, S Heeger, KA Lynch, KR DeCaro, D Bohach, KS Gibson, ... Pediatrics 111 (3), 573-578, 2003 | 141 | 2003 |
| Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus‐specific database M Bower, R Salomon, J Allanson, C Antignac, F Benedicenti, E Benetti, ... Human mutation 33 (3), 457-466, 2012 | 138 | 2012 |
| Metabolic pathway profiling of mitochondrial respiratory chain mutants in C. elegans MJ Falk, Z Zhang, JR Rosenjack, I Nissim, E Daikhin, MM Sedensky, ... Molecular genetics and metabolism 93 (4), 388-397, 2008 | 135 | 2008 |
| Defining failed induction of labor WA Grobman, J Bailit, Y Lai, UM Reddy, RJ Wapner, MW Varner, ... American journal of obstetrics and gynecology 218 (1), 122. e1-122. e8, 2018 | 119 | 2018 |
| Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders S Bannwarth, V Procaccio, AS Lebre, C Jardel, A Chaussenot, C Hoarau, ... Journal of medical genetics 50 (10), 704-714, 2013 | 119 | 2013 |
| Primary Coenzyme Q Deficiency in Pdss2 Mutant Mice Causes Isolated Renal Disease M Peng, MJ Falk, VH Haase, R King, E Polyak, M Selak, M Yudkoff, ... PLoS genetics 4 (4), e1000061, 2008 | 118 | 2008 |
