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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: thomas b. 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. Among authors: thomas b. 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.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, Das S, Davis KW, Del Gaudio D, Del Viso F, DiVincenzo C, Eisenberg M, Guidugli L, Hammer MB, Harrison SM, Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T, Radtke K, Rasmussen KJ, Retterer K, Saunders CJ, Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I, Thomas BC, Thomas-Wilson A, Thorpe E, Tidwell TJ, Towne MC, Zouk H; Medical Genome Initiative Steering Committee. Rehm HL, et al. Among authors: thomas bc, thomas wilson a. Genet Med. 2023 Dec;25(12):100947. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30. Genet Med. 2023. PMID: 37534744 Free PMC article.
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J, Cornejo-Olivas M, Duenas-Roque MM, Purizaca-Rosillo N, Rodriguez RS, Milla-Neyra K, De La Torre-Hernandez CA, Sarapura-Castro E, Galarreta Aima CI, Manassero-Morales G, Chávez-Pasco G, Celis-García L, La Serna-Infantes JE; Illumina Laboratory Services Bioinformatics, Software, Interpretation and Customer Support; Chekalin E, Thorpe E, Taft RJ. Bazalar-Montoya J, et al. NPJ Genom Med. 2024 Oct 28;9(1):51. doi: 10.1038/s41525-024-00434-8. NPJ Genom Med. 2024. PMID: 39468051 Free PMC article.
Hexamodal awake brain mapping (language, sensorimotor, ictal, visual, auditory) for multilobar resection in a dominant hemisphere parieto-fronto-temporo-occipital cortical malformation with drug-resistant epilepsy.
Dasarathan LV, Vilanilam GC, Parate AR, Sreekumar R, Vimala S, Sethuraman M, Menon RN, Radhakrishnan A, Manisha KY, Jayakumari N, Poyuran R, Nair NS, Chembakodan A, Mohan MP, Padmakumari VV, Nair NL, Vashishta R, Kesavadas C, Thomas B, Kesavapisharady K. Dasarathan LV, et al. Among authors: thomas b. Neurosurg Focus Video. 2025 Jan 1;12(1):V4. doi: 10.3171/2024.10.FOCVID24111. eCollection 2025 Jan. Neurosurg Focus Video. 2025. PMID: 39845303 Free PMC article.
Evidence for Endogenous Collagen in Edmontosaurus Fossil Bone.
Tuinstra L, Thomas B, Robinson S, Pawlak K, Elezi G, Faull KF, Taylor S. Tuinstra L, et al. Among authors: thomas b. Anal Chem. 2025 Jan 17. doi: 10.1021/acs.analchem.4c03115. Online ahead of print. Anal Chem. 2025. PMID: 39823391
Governance of Indigenous data in open earth systems science.
Jennings L, Jones K, Taitingfong R, Martinez A, David-Chavez D, Alegado Rʻ, Tofighi-Niaki A, Maldonado J, Thomas B, Dye D, Weber J, Spellman KV, Ketchum S, Duerr R, Johnson N, Balch J, Carroll SR. Jennings L, et al. Among authors: thomas b. Nat Commun. 2025 Jan 10;16(1):572. doi: 10.1038/s41467-024-53480-2. Nat Commun. 2025. PMID: 39794335 Free PMC article. Review.
Electric field stimulation directs target-specific axon regeneration and partial restoration of vision after optic nerve crush injury.
Kim T, Iseri E, Peng MG, Medvidovic S, Silliman T, Pahlavan P, Niu G, Huang C, Simonyan A, Pahnahad J, Yao P, Lam P, Garimella V, Shahidi M, Bienkowski MS, Lee DJ, Thomas B, Lazzi G, Gokoffski KK. Kim T, et al. Among authors: thomas b. PLoS One. 2025 Jan 9;20(1):e0315562. doi: 10.1371/journal.pone.0315562. eCollection 2025. PLoS One. 2025. PMID: 39787061 Free PMC article.
4,098 results