| The incidence of urea cycle disorders ML Summar, S Koelker, D Freedenberg, C Le Mons, J Haberle, HS Lee, ... Molecular genetics and metabolism 110 (1-2), 179-180, 2013 | 313 | 2013 |
| Angiotensin converting enzyme gene polymorphism: potential silencer motif and impact on progression in IgA nephropathy TE Hunley, BA Julian, JA Phillips III, ML Summar, H Yoshida, RG Horn, ... Kidney international 49 (2), 571-577, 1996 | 289 | 1996 |
| Neurological implications of urea cycle disorders AL Gropman, M Summar, JV Leonard Journal of inherited metabolic disease 30, 865-879, 2007 | 269 | 2007 |
| Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21‐year, multicentre study of acute hyperammonaemic episodes ML Summar, D Dobbelaere, S Brusilow, B Lee Acta paediatrica 97 (10), 1420-1425, 2008 | 266 | 2008 |
| Current strategies for the management of neonatal urea cycle disorders M Summar The Journal of pediatrics 138 (1), S30-S39, 2001 | 265 | 2001 |
| The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation S Kölker, AG Cazorla, V Valayannopoulos, AM Lund, AB Burlina, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2015 | 258 | 2015 |
| Neonatal pulmonary hypertension: urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function DLL Pearson, S Dawling, WF Walsh, JL Haines, BW Christman, A Bazyk, ... New England Journal of Medicine 344 (24), 1832-1838, 2001 | 253 | 2001 |
| The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype S Kölker, V Valayannopoulos, AB Burlina, J Sykut-Cegielska, FA Wijburg, ... Journal of inherited metabolic disease 38, 1059-1074, 2015 | 245 | 2015 |
| Cross-sectional multicenter study of patients with urea cycle disorders in the United States M Tuchman, B Lee, U Lichter-Konecki, ML Summar, M Yudkoff, ... Molecular genetics and metabolism 94 (4), 397-402, 2008 | 233 | 2008 |
| Requirement of argininosuccinate lyase for systemic nitric oxide production A Erez, SCS Nagamani, OA Shchelochkov, MH Premkumar, ... Nature medicine 17 (12), 1619-1626, 2011 | 223 | 2011 |
| A longitudinal study of urea cycle disorders ML Batshaw, M Tuchman, M Summar, J Seminara, ... Molecular genetics and metabolism 113 (1-2), 127-130, 2014 | 216 | 2014 |
| Shift work in nurses: contribution of phenotypes and genotypes to adaptation KL Gamble, AA Motsinger-Reif, A Hida, HM Borsetti, SV Servick, ... PloS one 6 (4), e18395, 2011 | 208 | 2011 |
| Multilocus analysis of hypertension: a hierarchical approach SM Williams, MD Ritchie, JA Phillips III, E Dawson, M Prince, E Dzhura, ... Human heredity 57 (1), 28-38, 2004 | 200 | 2004 |
| Urea cycle disorders overview A Mew, KL Simpson, AL Gropman, BC Lanpher, KA Chapman, ... | 192* | 2017 |
| Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an adult AIDS clinical trials group study T Hulgan, DW Haas, JL Haines, MD Ritchie, GK Robbins, RW Shafer, ... Aids 19 (13), 1341-1349, 2005 | 182 | 2005 |
| Bronchopulmonary dysplasia and perinatal characteristics predict 1-year respiratory outcomes in newborns born at extremely low gestational age: a prospective cohort study RL Keller, R Feng, SB DeMauro, T Ferkol, W Hardie, EE Rogers, ... The Journal of pediatrics 187, 89-97. e3, 2017 | 166 | 2017 |
| Genetic differences in human circadian clock genes among worldwide populations CM Ciarleglio, KK Ryckman, SV Servick, A Hida, S Robbins, N Wells, ... Journal of biological rhythms 23 (4), 330-340, 2008 | 156 | 2008 |
| Unmasked adult-onset urea cycle disorders in the critical care setting ML Summar, F Barr, S Dawling, W Smith, B Lee, RH Singh, WJ Rhead, ... Critical care clinics 21 (4), S1-S8, 2005 | 154 | 2005 |
| Natural history of propionic acidemia L Pena, J Franks, KA Chapman, A Gropman, NA Mew, A Chakrapani, ... Molecular genetics and metabolism 105 (1), 5-9, 2012 | 150 | 2012 |
| 22q11. 2 deletion syndrome in diverse populations P Kruszka, YA Addissie, DE McGinn, AR Porras, E Biggs, M Share, ... American Journal of Medical Genetics Part A 173 (4), 879-888, 2017 | 139 | 2017 |
Brendan LeeBaylor College of MedicineEmail verificata su bcm.edu
