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632 results

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Page 1
Biallelic EPCAM deletions induce tissue-specific DNA repair deficiency and cancer predisposition.
Forster VJ, Aronson M, Zhang C, Chung J, Sudhaman S, Galati MA, Kelly J, Negm L, Ercan AB, Stengs L, Durno C, Edwards M, Komosa M, Oldfield LE, Nunes NM, Pedersen S, Wellum J, Siddiqui I, Bianchi V, Weil BR, Fox VL, Pugh TJ, Kamihara J, Tabori U. Forster VJ, et al. Among authors: bianchi v. NPJ Precis Oncol. 2024 Mar 11;8(1):69. doi: 10.1038/s41698-024-00537-6. NPJ Precis Oncol. 2024. PMID: 38467830 Free PMC article.
Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD).
Briggs M, Das A, Firth H, Levine A, Sánchez-Ramírez S, Negm L, Ercan AB, Chung J, Bianchi V, Jalloh I, Phyu P, Thorp N, Grundy RG, Hawkins C, Trotman J, Tarpey P, Tabori U, Allinson K, Murray MJ; Genomics England Research Consortium. Briggs M, et al. Among authors: bianchi v. Neuropathol Appl Neurobiol. 2023 Feb;49(1):e12862. doi: 10.1111/nan.12862. Epub 2022 Nov 18. Neuropathol Appl Neurobiol. 2023. PMID: 36341503 Free PMC article. No abstract available.
Using comprehensive genomic and functional analyses for resolving genotype-phenotype mismatches in children with suspected CMMRD in Lebanon: an IRRDC study.
Hamideh D, Das A, Bianchi V, Chung J, Negm L, Levine A, Basbous M, Sanchez-Ramirez S, Mikael L, Jabado N, Atweh L, Lteif M, Mahfouz R, Tarek N, Abboud M, Muwakkit S, Hawkins C, Tabori U, Saab R; International Replication Repair Deficiency Consortium (IRRDC). Hamideh D, et al. Among authors: bianchi v. Hum Genet. 2023 Apr;142(4):563-576. doi: 10.1007/s00439-023-02530-8. Epub 2023 Feb 15. Hum Genet. 2023. PMID: 36790526
Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing.
Liu MH, Costa B, Choi U, Bandler RC, Lassen E, Grońska-Pęski M, Schwing A, Murphy ZR, Rosenkjær D, Picciotto S, Bianchi V, Stengs L, Edwards M, Loh CA, Truong TK, Brand RE, Pastinen T, Wagner JR, Skytte AB, Tabori U, Shoag JE, Evrony GD. Liu MH, et al. Among authors: bianchi v. bioRxiv [Preprint]. 2023 Feb 19:2023.02.19.526140. doi: 10.1101/2023.02.19.526140. bioRxiv. 2023. Update in: Nature. 2024 Jun;630(8017):752-761. doi: 10.1038/s41586-024-07532-8 PMID: 36824744 Free PMC article. Updated. Preprint.
Efficacy of Nivolumab in Pediatric Cancers with High Mutation Burden and Mismatch Repair Deficiency.
Das A, Tabori U, Sambira Nahum LC, Collins NB, Deyell R, Dvir R, Faure-Conter C, Hassall TE, Minturn JE, Edwards M, Brookes E, Bianchi V, Levine A, Stone SC, Sudhaman S, Sanchez Ramirez S, Ercan AB, Stengs L, Chung J, Negm L, Getz G, Maruvka YE, Ertl-Wagner B, Ohashi PS, Pugh T, Hawkins C, Bouffet E, Morgenstern DA. Das A, et al. Among authors: bianchi v. Clin Cancer Res. 2023 Dec 1;29(23):4770-4783. doi: 10.1158/1078-0432.CCR-23-0411. Clin Cancer Res. 2023. PMID: 37126021 Free PMC article.
Combined Immunotherapy Improves Outcome for Replication-Repair-Deficient (RRD) High-Grade Glioma Failing Anti-PD-1 Monotherapy: A Report from the International RRD Consortium.
Das A, Fernandez NR, Levine A, Bianchi V, Stengs LK, Chung J, Negm L, Dimayacyac JR, Chang Y, Nobre L, Ercan AB, Sanchez-Ramirez S, Sudhaman S, Edwards M, Larouche V, Samuel D, Van Damme A, Gass D, Ziegler DS, Bielack SS, Koschmann C, Zelcer S, Yalon-Oren M, Campino GA, Sarosiek T, Nichols KE, Loret De Mola R, Bielamowicz K, Sabel M, Frojd CA, Wood MD, Glover JM, Lee YY, Vanan M, Adamski JK, Perreault S, Chamdine O, Hjort MA, Zapotocky M, Carceller F, Wright E, Fedorakova I, Lossos A, Tanaka R, Osborn M, Blumenthal DT, Aronson M, Bartels U, Huang A, Ramaswamy V, Malkin D, Shlien A, Villani A, Dirks PB, Pugh TJ, Getz G, Maruvka YE, Tsang DS, Ertl-Wagner B, Hawkins C, Bouffet E, Morgenstern DA, Tabori U. Das A, et al. Among authors: bianchi v. Cancer Discov. 2024 Feb 8;14(2):258-273. doi: 10.1158/2159-8290.CD-23-0559. Cancer Discov. 2024. PMID: 37823831 Free PMC article.
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
Marín F, Canet-Hermida J, Bianchi V, Chung J, Wimmer K, Foulkes W, Pérez-Alonso V, Domínguez-Pinilla N, Sábado C, Vázquez-Gómez F, Molinés A, Fioravantti V, Carrasco E, Stengs L, Edwards M, Negm L, Das A, Aronson M, Pastor Á, Rueda D, González-Granado LI, Tabori U, Capellá G, Pineda M. Marín F, et al. Among authors: bianchi v. Clin Chem. 2024 May 2;70(5):737-746. doi: 10.1093/clinchem/hvae027. Clin Chem. 2024. PMID: 38531023
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
Ercan AB, Aronson M, Fernandez NR, Chang Y, Levine A, Liu ZA, Negm L, Edwards M, Bianchi V, Stengs L, Chung J, Al-Battashi A, Reschke A, Lion A, Ahmad A, Lassaletta A, Reddy AT, Al-Darraji AF, Shah AC, Van Damme A, Bendel A, Rashid A, Margol AS, Kelly BL, Pencheva B, Heald B, Lemieux-Anglin B, Crooks B, Koschmann C, Gilpin C, Porter CC, Gass D, Samuel D, Ziegler DS, Blumenthal DT, Kuo DJ, Hamideh D, Basel D, Khuong-Quang DA, Stearns D, Opocher E, Carceller F, Baris Feldman H, Toledano H, Winer I, Scheers I, Fedorakova I, Su JM, Vengoechea J, Sterba J, Knipstein J, Hansford JR, Gonzales-Santos JR, Bhatia K, Bielamowicz KJ, Minhas K, Nichols KE, Cole KA, Penney L, Hjort MA, Sabel M, Gil-da-Costa MJ, Murray MJ, Miller M, Blundell ML, Massimino M, Al-Hussaini M, Al-Jadiry MF, Comito MA, Osborn M, Link MP, Zapotocky M, Ghalibafian M, Shaheen N, Mushtaq N, Waespe N, Hijiya N, Fuentes-Bolanos N, Ahmad O, Chamdine O, Roy P, Pichurin PN, Nyman P, Pearlman R, Auer RC, Sukumaran RK, Kebudi R, Dvir R, Raphael R, Elhasid R, McGee RB, Chami R, Noss R, Tanaka R, Raskin S, Sen S, Lindhorst S, Perreault S, Caspi S, Riaz S, Constantini S, Albert S, Chaleff S, Bielack S, Chiaravalli S, Cramer… See abstract for full author list ➔ Ercan AB, et al. Among authors: bianchi v. Lancet Oncol. 2024 May;25(5):668-682. doi: 10.1016/S1470-2045(24)00026-3. Epub 2024 Mar 26. Lancet Oncol. 2024. PMID: 38552658
Precision immuno-oncology approach for four malignant tumors in siblings with constitutional mismatch repair deficiency syndrome.
Palova H, Das A, Pokorna P, Bajciova V, Pavelka Z, Jezova M, Pal K, Dimayacyac JR, Negm L, Stengs L, Bianchi V, Vejmelkova K, Noskova K, Jarosova M, Mejstrikova S, Mudry P, Kyr M, Merta T, Tinka P, Drabova K, Aulicka S, Jugas R, Tabori U, Slaby O, Sterba J. Palova H, et al. Among authors: bianchi v. NPJ Precis Oncol. 2024 May 21;8(1):110. doi: 10.1038/s41698-024-00597-8. NPJ Precis Oncol. 2024. PMID: 38773265 Free PMC article.
DNA mismatch and damage patterns revealed by single-molecule sequencing.
Liu MH, Costa BM, Bianchini EC, Choi U, Bandler RC, Lassen E, Grońska-Pęski M, Schwing A, Murphy ZR, Rosenkjær D, Picciotto S, Bianchi V, Stengs L, Edwards M, Nunes NM, Loh CA, Truong TK, Brand RE, Pastinen T, Wagner JR, Skytte AB, Tabori U, Shoag JE, Evrony GD. Liu MH, et al. Among authors: bianchi v. Nature. 2024 Jun;630(8017):752-761. doi: 10.1038/s41586-024-07532-8. Epub 2024 Jun 12. Nature. 2024. PMID: 38867045 Free PMC article.
632 results