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Page 1
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
Pellerin D, Del Gobbo GF, Couse M, Dolzhenko E, Nageshwaran SK, Cheung WA, Xu IRL, Dicaire MJ, Spurdens G, Matos-Rodrigues G, Stevanovski I, Scriba CK, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Agarwal A, Peter C, Hasson D, Tsankova NM, Dewar K, Lamont PJ, Laing NG, Renaud M, Houlden H, Synofzik M, Usdin K, Nussenzweig A, Napierala M, Chen Z, Jiang H, Deveson IW, Ravenscroft G, Akbarian S, Eberle MA, Boycott KM, Pastinen T; All of Us Research Program Long Read Working Group; Brais B, Zuchner S, Danzi MC. Pellerin D, et al. Among authors: del gobbo gf. Nat Genet. 2024 Jul;56(7):1366-1370. doi: 10.1038/s41588-024-01808-5. Epub 2024 Jun 27. Nat Genet. 2024. PMID: 38937606 Free PMC article.
Bariatric Surgical Outcomes in the Elderly: A Comparison Study Between Primary and Revisional Procedures in the United Arab Emirates.
Barajas-Gamboa JS, Serra FE, Romero-Velez G, Dang JT, Del Gobbo GD, Abdallah M, Abril C, Raza J, Guerron AD, Corcelles R, Kroh M, Rodriguez J, Pantoja JP. Barajas-Gamboa JS, et al. Among authors: del gobbo gd. Obes Surg. 2024 Jul;34(7):2515-2522. doi: 10.1007/s11695-024-07304-3. Epub 2024 May 31. Obes Surg. 2024. PMID: 38819724
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.
Pellerin D, Heindl F, Wilke C, Danzi MC, Traschütz A, Ashton C, Dicaire MJ, Cuillerier A, Del Gobbo G, Boycott KM, Claassen J, Rujescu D, Hartmann AM, Zuchner S, Brais B, Strupp M, Synofzik M. Pellerin D, et al. Among authors: del gobbo g. EBioMedicine. 2024 Apr;102:105076. doi: 10.1016/j.ebiom.2024.105076. Epub 2024 Mar 19. EBioMedicine. 2024. PMID: 38507876 Free PMC article.
Cardiovascular disease risk scores in patients with optimal vs suboptimal weight loss after bariatric surgery: Translating improvements into clinical practice.
Salih RM, Barajas-Gamboa JS, Del Gobbo GD, Abdallah M, Sun H, Lee-St John T, Kanwar O, Abril C, Pantoja JP, Raza J, Sabbour H, Rodriguez J, Kroh M, Corcelles R. Salih RM, et al. Among authors: del gobbo gd. Am J Surg. 2024 Jul;233:136-141. doi: 10.1016/j.amjsurg.2024.03.009. Epub 2024 Mar 11. Am J Surg. 2024. PMID: 38494359
Development and Comprehensive Benchmark of a High-Quality AMBER-Consistent Small Molecule Force Field with Broad Chemical Space Coverage for Molecular Modeling and Free Energy Calculation.
Xue B, Yang Q, Zhang Q, Wan X, Fang D, Lin X, Sun G, Gobbo G, Cao F, Mathiowetz AM, Burke BJ, Kumpf RA, Rai BK, Wood GPF, Pickard FC 4th, Wang J, Zhang P, Ma J, Jiang YA, Wen S, Hou X, Zou J, Yang M. Xue B, et al. Among authors: gobbo g. J Chem Theory Comput. 2024 Jan 23;20(2):799-818. doi: 10.1021/acs.jctc.3c00920. Epub 2023 Dec 29. J Chem Theory Comput. 2024. PMID: 38157475
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
Del Gobbo GF, Wang X, Couse M, Mackay L, Goldsmith C, Marshall AE, Liang Y, Lambert C, Zhang S, Dhillon H, Fanslow C, Rowell WJ; Care4Rare Canada Consortium; Marshall CR, Kernohan KD, Boycott KM. Del Gobbo GF, et al. Am J Med Genet A. 2024 May;194(5):e63522. doi: 10.1002/ajmg.a.63522. Epub 2023 Dec 22. Am J Med Genet A. 2024. PMID: 38131126
74 results