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Page 1
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. Genet Med. 2023 Dec;25(12):100947. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30. Genet Med. 2023. PMID: 37534744
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. 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.
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.
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.
AML/T cell interactomics uncover correlates of patient outcomes and the key role of ICAM1 in T cell killing of AML.
Sayitoglu EC, Luca BA, Boss AP, Thomas BC, Freeborn RA, Uyeda MJ, Chen PP, Nakauchi Y, Waichler C, Lacayo N, Bacchetta R, Majeti R, Gentles AJ, Cepika AM, Roncarolo MG. Sayitoglu EC, et al. Among authors: thomas bc. Leukemia. 2024 Jun;38(6):1246-1255. doi: 10.1038/s41375-024-02255-1. Epub 2024 May 9. Leukemia. 2024. PMID: 38724673 Free PMC article.
Epigenetic signature and key transcriptional regulators of human antigen-specific type 1 regulatory T cells.
Cepika AM, Amaya L, Waichler C, Narula M, Mantilla MM, Thomas BC, Chen PP, Freeborn RA, Pavel-Dinu M, Nideffer J, Porteus M, Bacchetta R, Müller F, Greenleaf WJ, Chang HY, Roncarolo MG. Cepika AM, et al. Among authors: thomas bc. bioRxiv [Preprint]. 2024 Mar 12:2024.03.07.582969. doi: 10.1101/2024.03.07.582969. bioRxiv. 2024. PMID: 38559096 Free PMC article. Preprint.
PI3K/mTOR is a therapeutically targetable genetic dependency in diffuse intrinsic pontine glioma.
Duchatel RJ, Jackson ER, Parackal SG, Kiltschewskij D, Findlay IJ, Mannan A, Staudt DE, Thomas BC, Germon ZP, Laternser S, Kearney PS, Jamaluddin MFB, Douglas AM, Beitaki T, McEwen HP, Persson ML, Hocke EA, Jain V, Aksu M, Manning EE, Murray HC, Verrills NM, Sun CX, Daniel P, Vilain RE, Skerrett-Byrne DA, Nixon B, Hua S, de Bock CE, Colino-Sanguino Y, Valdes-Mora F, Tsoli M, Ziegler DS, Cairns MJ, Raabe EH, Vitanza NA, Hulleman E, Phoenix TN, Koschmann C, Alvaro F, Dayas CV, Tinkle CL, Wheeler H, Whittle JR, Eisenstat DD, Firestein R, Mueller S, Valvi S, Hansford JR, Ashley DM, Gregory SG, Kilburn LB, Nazarian J, Cain JE, Dun MD. Duchatel RJ, et al. Among authors: thomas bc. J Clin Invest. 2024 Feb 6;134(6):e170329. doi: 10.1172/JCI170329. J Clin Invest. 2024. PMID: 38319732 Free PMC article.
Lymphovascular Invasion at the Time of Radical Prostatectomy Adversely Impacts Oncological Outcomes.
Sathianathen NJ, Furrer MA, Mulholland CJ, Katsios A, Soliman C, Lawrentschuk N, Peters JS, Zargar H, Costello AJ, Hovens CM, Bishop C, Rao R, Tong R, Steiner D, Moon D, Thomas BC, Dundee P, Calero JAR, Thalmann GN, Corcoran NM. Sathianathen NJ, et al. Among authors: thomas bc. Cancers (Basel). 2023 Dec 26;16(1):123. doi: 10.3390/cancers16010123. Cancers (Basel). 2023. PMID: 38201549 Free PMC article.
240 results