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The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB; Undiagnosed Diseases Network; Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z. Kumble S, et al. Among authors: robinson s. Hum Mutat. 2022 Feb;43(2):266-282. doi: 10.1002/humu.24308. Epub 2021 Dec 11. Hum Mutat. 2022. PMID: 34859529 Free article.
COVID-19's Impact on Genetics at One Medical Center in New York.
Pereira EM; Columbia University Clinical Genetics Professionals; Chung WK. Pereira EM, et al. Genet Med. 2020 Sep;22(9):1467-1469. doi: 10.1038/s41436-020-0857-7. Epub 2020 Jun 5. Genet Med. 2020. PMID: 32499605 Free PMC article. No abstract available.
Clinical and genomic characterization of 8p cytogenomic disorders.
Okur V, Hamm L, Kavus H, Mebane C, Robinson S, Levy B, Chung WK. Okur V, et al. Among authors: robinson s. Genet Med. 2021 Dec;23(12):2342-2351. doi: 10.1038/s41436-021-01270-2. Epub 2021 Jul 19. Genet Med. 2021. PMID: 34282301 Free article.
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.
Griffin EL, Nees SN, Morton SU, Wynn J, Patel N, Jobanputra V, Robinson S, Kochav SM, Tao A, Andrews C, Cross N, Geva J, Lanzilotta K, Ritter A, Taillie E, Thompson A, Meyer C, Akers R, King EC, Cnota JF, Kim RW, Porter GA Jr, Brueckner M, Seidman CE, Shen Y, Gelb BD, Goldmuntz E, Newburger JW, Roberts AE, Chung WK. Griffin EL, et al. Among authors: robinson s. Circ Genom Precis Med. 2023 Apr;16(2):e003791. doi: 10.1161/CIRCGEN.122.003791. Epub 2023 Feb 21. Circ Genom Precis Med. 2023. PMID: 36803080 Free PMC article.
The multidisciplinary Landscape of gender affirmation surgical training.
Hamidian Jahromi A, Stoehr JR, Robinson SG. Hamidian Jahromi A, et al. Among authors: robinson sg. Am J Surg. 2024 Apr 27:S0002-9610(24)00261-7. doi: 10.1016/j.amjsurg.2024.04.024. Online ahead of print. Am J Surg. 2024. PMID: 38704300 No abstract available.
Safety and immunogenicity of a polyvalent DNA-protein HIV vaccine with matched Env immunogens delivered as a prime-boost regimen or coadministered in HIV-uninfected adults in the USA (HVTN 124): a phase 1, placebo-controlled, double-blind randomised controlled trial.
Frank I, Li SS, Grunenberg N, Overton ET, Robinson ST, Zheng H, Seaton KE, Heptinstall JR, Allen MA, Mayer KH, Culver DA, Keefer MC, Edupuganti S, Pensiero MN, Mehra VL, De Rosa SC, Morris DE, Wang S, Seaman MS, Montefiori DC, Ferrari G, Tomaras GD, Kublin JG, Corey L, Lu S; HVTN 124 Study Team. Frank I, et al. Among authors: robinson st. Lancet HIV. 2024 May;11(5):e285-e299. doi: 10.1016/S2352-3018(24)00036-5. Lancet HIV. 2024. PMID: 38692824 Clinical Trial.
Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F, Kemppainen JL, Vitek CRR, Whalen DA, Kolbert KJ, Sikkink KJ, Kroc SA, Kruisselbrink T, Shupe GF, Knudson AK, Burke EM, Loftus EC, Bandel LA, Prochnow CA, Mulvihill LA, Thomas B, Gable DM, Graddy CB, Garzon GGM, Ekpoh IU, Porquera EMC, Fervenza FC, Hogan MC, El Ters M, Warrington KJ, Davis JM 3rd, Koster MJ, Orandi AB, Basiaga ML, Vella A, Kumar S, Creo AL, Lteif AN, Pittock ST, Tebben PJ, Abate EG, Joshi AY, Ristagno EH, Patnaik MS, Schimmenti LA, Dhamija R, Sabrowsky SM, Wierenga KJ, Keddis MT, Samadder NJJ, Presutti RJ, Robinson SI, Stephens MC, Roberts LR, Faubion WA Jr, Driscoll SW, Wong-Kisiel LC, Selcen D, Flanagan EP, Ramanan VK, Jackson LM, Mauermann ML, Ortega VE, Anderson SA, Aoudia SL, Klee EW, McAllister TM, Lazaridis KN. Pinto E Vairo F, et al. Among authors: robinson si. J Transl Med. 2024 Apr 30;22(1):400. doi: 10.1186/s12967-024-05185-9. J Transl Med. 2024. PMID: 38689323 Free PMC article. No abstract available.
4,959 results