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IL-17 signaling in primary sclerosing cholangitis patient-derived organoids.
Garcia Moreno AS, Guicciardi ME, Wixom AQ, Jessen E, Yang J, Ilyas SI, Bianchi JK, Pinto E Vairo F, Lazaridis KN, Gores GJ. Garcia Moreno AS, et al. Among authors: pinto e vairo f. Hepatol Commun. 2024 Jun 3;8(6):e0454. doi: 10.1097/HC9.0000000000000454. eCollection 2024 Jun 1. Hepatol Commun. 2024. PMID: 38829197
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.
Wilke MVMB, Klee EW, Dhamija R, Fervenza FC, Thomas B, Leung N, Hogan MC, Hager MM, Kolbert KJ, Kemppainen JL, Loftus EC, Leitzen KM, Vitek CR, McAllister T, Lazaridis KN, Pinto E Vairo F. Wilke MVMB, et al. Among authors: pinto e vairo f. Orphanet J Rare Dis. 2024 May 24;19(1):216. doi: 10.1186/s13023-024-03213-x. Orphanet J Rare Dis. 2024. PMID: 38790019 Free PMC article.
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. 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.
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Goldstein JL, McGlaughon J, Kanavy D, Goomber S, Pan Y, Deml B, Donti T, Kearns L, Seifert BA, Schachter M, Son RG, Thaxton C, Udani R, Bali D, Baudet H, Caggana M, Hung C, Kyriakopoulou L, Rosenblum L, Steiner R, Pinto E Vairo F, Wang Y, Watson M, Fernandez R, Weaver M, Clarke L, Rehder C. Goldstein JL, et al. Among authors: pinto e vairo f. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107715. doi: 10.1016/j.ymgme.2023.107715. Epub 2023 Oct 26. Mol Genet Metab. 2023. PMID: 37907381
IL-17 Signaling in Primary Sclerosing Cholangitis Patient-Derived Organoids.
Garcia Moreno AS, Guicciardi ME, Wixom AQ, Jessen E, Yang J, Ilyas SI, Bianchi JK, Pinto E Vairo F, Lazaridis KN, Gores GJ. Garcia Moreno AS, et al. Among authors: pinto e vairo f. Res Sq [Preprint]. 2023 Oct 16:rs.3.rs-3406046. doi: 10.21203/rs.3.rs-3406046/v1. Res Sq. 2023. PMID: 37886596 Free PMC article. Preprint.
An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.
Nmezi B, Bey GR, Oranburg TD, Dudnyk K, Lardo SM, Herdman N, Jacko A, Rubio S, Alcocer EL, Kofler J, Kim D, Rankin J, Kivuva E, Gutowski N, Schon K, van den Ameele J, Chinnery PF, Sousa SB, Palavra F, Toro C, Pinto E Vairo F, Saute J, Pan L, Alturkustani M, Hammond R, Gros-Louis F, Gold M, Park Y, Bernard G, Raininko R, Zhou J, Hainer SJ, Padiath QS. Nmezi B, et al. Among authors: pinto e vairo f. bioRxiv [Preprint]. 2023 Aug 9:2023.08.03.551473. doi: 10.1101/2023.08.03.551473. bioRxiv. 2023. PMID: 37609196 Free PMC article. Preprint.
50 results