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Andrea Lynne Gropman
Andrea Lynne Gropman
Professor of Pediatrics, Neurology, Genomics and Personalized Medicine, Children's National Hospital
在 childrensnational.org 的电子邮件经过验证 - 首页
标题
引用次数
引用次数
年份
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
7782008
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
6392012
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
5672015
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
3722001
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
3192017
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
3122012
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
3112011
Neurological implications of urea cycle disorders
AL Gropman, M Summar, JV Leonard
Journal of inherited metabolic disease 30, 865-879, 2007
2702007
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
2532007
Swaiman's pediatric neurology: principles and practice
KF Swaiman, S Ashwal, DM Ferriero, NF Schor, RS Finkel, AL Gropman, ...
Elsevier Health Sciences, 2017
2422017
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
2322003
Clinical spectrum of succinic semialdehyde dehydrogenase deficiency
PL Pearl, KM Gibson, MT Acosta, LG Vezina, WH Theodore, ...
Neurology 60 (9), 1413-1417, 2003
2262003
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
2192010
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
1942006
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
1822017
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
1772012
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
1582017
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
1522012
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
1482016
Smith–Magenis Syndrome
ACM Smith, AL Gropman
Cassidy and Allanson's management of genetic syndromes, 863-893, 2021
1462021
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