| Phenotype and course of Hutchinson–Gilford progeria syndrome MA Merideth, LB Gordon, S Clauss, V Sachdev, ACM Smith, MB Perry, ... New England journal of medicine 358 (6), 592-604, 2008 | 771 | 2008 |
| Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries ME Talkowski, JA Rosenfeld, I Blumenthal, V Pillalamarri, C Chiang, ... Cell 149 (3), 525-537, 2012 | 641 | 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 | 556 | 2015 |
| Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations KR Wagner, S Hamed, DW Hadley, AL Gropman, AH Burstein, ... Annals of Neurology: Official Journal of the American Neurological …, 2001 | 367 | 2001 |
| The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ... Nature genetics 49 (1), 36-45, 2017 | 310 | 2017 |
| The national institutes of health undiagnosed diseases program: insights into rare diseases WA Gahl, TC Markello, C Toro, KF Fajardo, M Sincan, F Gill, ... Genetics in Medicine 14 (1), 51-59, 2012 | 308 | 2012 |
| Evidence Report: Genetic and metabolic testing on children with global developmental delay [RETIRED] Report of the Quality Standards Subcommittee of the American Academy of … DJ Michelson, MI Shevell, EH Sherr, JB Moeschler, AL Gropman, ... Neurology 77 (17), 1629-1635, 2011 | 308 | 2011 |
| Neurological implications of urea cycle disorders AL Gropman, M Summar, JV Leonard Journal of inherited metabolic disease 30, 865-879, 2007 | 269 | 2007 |
| Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics SW Cheung, CA Shaw, DA Scott, A Patel, T Sahoo, CA Bacino, A Pursley, ... American journal of medical genetics Part A 143 (15), 1679-1686, 2007 | 254 | 2007 |
| Swaiman's pediatric neurology: principles and practice KF Swaiman, S Ashwal, DM Ferriero, NF Schor, RS Finkel, AL Gropman, ... Elsevier Health Sciences, 2017 | 232 | 2017 |
| Mutations of MYO6 are associated with recessive deafness, DFNB37 ZM Ahmed, RJ Morell, S Riazuddin, A Gropman, S Shaukat, MM Ahmad, ... The American Journal of Human Genetics 72 (5), 1315-1322, 2003 | 229 | 2003 |
| Clinical spectrum of succinic semialdehyde dehydrogenase deficiency PL Pearl, KM Gibson, MT Acosta, LG Vezina, WH Theodore, ... Neurology 60 (9), 1413-1417, 2003 | 225 | 2003 |
| Linear clinical progression, independent of age of onset, in Niemann–Pick disease, type C NM Yanjanin, JI Vélez, A Gropman, K King, SE Bianconi, SK Conley, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153 …, 2010 | 217 | 2010 |
| Urea cycle disorders overview A Mew, KL Simpson, AL Gropman, BC Lanpher, KA Chapman, ... | 192* | 2017 |
| Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11. 2) AL Gropman, WC Duncan, ACM Smith Pediatric neurology 34 (5), 337-350, 2006 | 192 | 2006 |
| MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome J Wang, R Al-Ouran, Y Hu, SY Kim, YW Wan, MF Wangler, S Yamamoto, ... The American Journal of Human Genetics 100 (6), 843-853, 2017 | 177 | 2017 |
| The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria JJ Johnston, AL Gropman, JC Sapp, JK Teer, JM Martin, CF Liu, X Yuan, ... The American Journal of Human Genetics 90 (2), 295-300, 2012 | 174 | 2012 |
| The undiagnosed diseases network: accelerating discovery about health and disease RB Ramoni, JJ Mulvihill, DR Adams, P Allard, EA Ashley, JA Bernstein, ... The American Journal of Human Genetics 100 (2), 185-192, 2017 | 159 | 2017 |
| 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 |
| 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 |
Carole Samango-SprouseGeorge Washington UniversityEmail verificata su email.gwu.edu
