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Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
J Transl Med. 2023 Jun 23;21(1):410. doi: 10.1186/s12967-023-04183-7.
J Transl Med. 2023.
PMID: 37353797
Free article.
Newborn Screening for Severe Combined Immunodeficiency: 10-Year Experience at a Single Referral Center (2009-2018).
Thorsen J, Kolbert K, Joshi A, Baker M, Seroogy CM.
Thorsen J, et al.
J Clin Immunol. 2021 Apr;41(3):595-602. doi: 10.1007/s10875-020-00956-7. Epub 2021 Jan 7.
J Clin Immunol. 2021.
PMID: 33409868
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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: kolbert kj.
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.
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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: kolbert kj.
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.
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