Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12 G Montenegro, AP Rebelo, J Connell, R Allison, C Babalini, M D’Aloia, ... The Journal of clinical investigation 122 (2), 538-544, 2012 | 188 | 2012 |
Vitamin D receptor and Alzheimer's disease: a genetic and functional study L Wang, K Hara, JM Van Baaren, JC Price, GW Beecham, PJ Gallins, ... Neurobiology of aging 33 (8), 1844. e1-1844. e9, 2012 | 125 | 2012 |
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss A Sırmacı, S Erbek, J Price, M Huang, D Duman, FB Cengiz, G Bademci, ... The American Journal of Human Genetics 86 (5), 797-804, 2010 | 69 | 2010 |
Characterization of the mitofusin 2 R94W mutation in a knock‐in mouse model AV Strickland, AP Rebelo, F Zhang, J Price, B Bolon, JP Silva, R Wen, ... Journal of the Peripheral Nervous System 19 (2), 152-164, 2014 | 59 | 2014 |
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia DS McCorquodale III, U Ozomaro, J Huang, G Montenegro, A Kushman, ... Clinical genetics 79 (6), 523-530, 2011 | 57 | 2011 |
Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2 DS McCorquodale, G Montenegro, A Peguero, N Carlson, F Speziani, ... Journal of neurology 258, 1234-1239, 2011 | 43 | 2011 |
Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease J Huang, X Wu, G Montenegro, J Price, G Wang, JM Vance, ME Shy, ... Journal of neurology 257, 735-741, 2010 | 30 | 2010 |
Applications of simulation and AI search: Assessing the relative merits of agile vs traditional software development B Lemon, A Riesbeck, T Menzies, J Price, J D'Alessandro, R Carlsson, ... 2009 IEEE/ACM International Conference on Automated Software Engineering …, 2009 | 15 | 2009 |
In vivo electroporation and non-protein based screening assays to identify antibodies against native protein conformations P Daftarian, R Chowdhury, P Ames, C Wei, AD King, JP de Rivero Vaccari, ... Hybridoma 30 (5), 409-418, 2011 | 10 | 2011 |
Hydroxychloroquine Induced Hypoglycemia A Barsoum, J Huang, M Kazemi, J Price, I Chakrabarty A33. PUSHING THE IMMUNE SYSTEM TO THE LIMIT: CASE STUDIES, A1364-A1364, 2024 | | 2024 |
Implementing Human Factors Principles to Utilize Healthcare Workers as an Essential Source of Safety and Resilience to Impact Wellbeing & Burnout H Farley, E Harry, MR Privitera, C Sinsky, J Price, L Wolf | | 2023 |
Characterization of a Novel Mitofusin 2 Knock-In Mouse Model (P05. 061) A Strickland, A Rebelo, F Zhang, J Price, J Silva, R Wen, B Bolon, ... Neurology 80 (7_supplement), P05. 061-P05. 061, 2013 | | 2013 |
Genetic structure and subcellular targeting of the hereditary spastic paraplegia gene REEP1. J Price, J Huang, G Montenegro, T Deconinck, M Pericak-Vance, G Wang, ... American Society for Human Genetics, 2010 | | 2010 |
The Genetic Contribution of Copy Number Variants to Hereditary Peripheral Neuropathies J Huang, J Price, G Montenegro, G Wang, X Wu, J Vance, M Shy, ... NEUROLOGY 72 (11), A118-A118, 2009 | | 2009 |
Genetic and Cellular Studies of the Hereditary Spastic Paraplegia Gene REEP1 J Huang, G Montenegro, N Deconinck, J Price, M Pericak-Vance, G Wang, ... NEUROLOGY 72 (11), A368-A369, 2009 | | 2009 |