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Page 1
Genome sequencing as a generic diagnostic strategy for rare disease.
Schobers G, Derks R, den Ouden A, Swinkels H, van Reeuwijk J, Bosgoed E, Lugtenberg D, Sun SM, Corominas Galbany J, Weiss M, Blok MJ, Olde Keizer RACM, Hofste T, Hellebrekers D, de Leeuw N, Stegmann A, Kamsteeg EJ, Paulussen ADC, Ligtenberg MJL, Bradley XZ, Peden J, Gutierrez A, Pullen A, Payne T, Gilissen C, van den Wijngaard A, Brunner HG, Nelen M, Yntema HG, Vissers LELM. Schobers G, et al. Among authors: ligtenberg mjl. Genome Med. 2024 Feb 14;16(1):32. doi: 10.1186/s13073-024-01301-y. Genome Med. 2024. PMID: 38355605 Free PMC article.
Circulating tumor DNA detection after neoadjuvant treatment and surgery predicts recurrence in patients with early-stage and locally advanced rectal cancer.
Hofste LSM, Geerlings MJ, von Rhein D, Rütten H, Westenberg AH, Weiss MM, Gilissen C, Hofste T, van der Post RS, Klarenbeek BR, de Wilt JHW, Ligtenberg MJL; Libic2 collaborators group. Hofste LSM, et al. Among authors: ligtenberg mjl. Eur J Surg Oncol. 2023 Jul;49(7):1283-1290. doi: 10.1016/j.ejso.2023.01.026. Epub 2023 Jan 31. Eur J Surg Oncol. 2023. PMID: 36740555 Free article.
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
Marouane A, Neveling K, Deden AC, van den Heuvel S, Zafeiropoulou D, Castelein S, van de Veerdonk F, Koolen DA, Simons A, Rodenburg R, Westra D, Mensenkamp AR, de Leeuw N, Ligtenberg M, Matthijsse R, Pfundt R, Kamsteeg EJ, Brunner HG, Gilissen C, Feenstra I, de Boode WP, Yntema HG, van Zelst-Stams WAG, Nelen M, Vissers LELM. Marouane A, et al. Front Genet. 2024 Jan 8;14:1304520. doi: 10.3389/fgene.2023.1304520. eCollection 2023. Front Genet. 2024. PMID: 38259611 Free PMC article.
GERMLINE PATHOGENIC VARIANTS IN PATIENTS WITH PANCREATIC DUCTAL ADENOCARCINOMA AND EXTRA-PANCREATIC MALIGNANCIES: A NATIONWIDE DATABASE ANALYSIS.
Kryklyva V, Pflüger MJ, Ouchene H, Volleberg-Gorissen H, Mensenkamp AR, Jonker MA, van de Water C, Nagtegaal ID, Ligtenberg MJL, Brosens LAA. Kryklyva V, et al. Among authors: ligtenberg mjl. Mod Pathol. 2025 Jan 8:100709. doi: 10.1016/j.modpat.2025.100709. Online ahead of print. Mod Pathol. 2025. PMID: 39793706 Free article.
Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer.
São José C, Garcia-Pelaez J, Ferreira M, Arrieta O, André A, Martins N, Solís S, Martínez-Benítez B, Ordóñez-Sánchez ML, Rodríguez-Torres M, Sommer AK, Te Paske IBAW, Caldas C, Tischkowitz M, Tusié MT; Solve-RD DITF-GENTURIS; Hoogerbrugge N, Demidov G, de Voer RM, Laurie S, Oliveira C. São José C, et al. Gastric Cancer. 2023 Sep;26(5):653-666. doi: 10.1007/s10120-023-01395-0. Epub 2023 May 30. Gastric Cancer. 2023. PMID: 37249750 Free PMC article.
Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.
Osorio A, Milne RL, Alonso R, Pita G, Peterlongo P, Teulé A, Nathanson KL, Domchek SM, Rebbeck T, Lasa A, Konstantopoulou I, Hogervorst FB, Verhoef S, van Dooren MF, Jager A, Ausems MG, Aalfs CM, van Asperen CJ, Vreeswijk M, Waisfisz Q, Van Roozendaal CE, Ligtenberg MJ; HEBON; EMBRACE; Easton DF, Peock S, Cook M, Oliver CT, Frost D, Curzon B, Evans DG, Lalloo F, Eeles R, Izatt L, Davidson R, Adlard J, Eccles D, Ong KR, Douglas F, Downing S, Brewer C, Walker L, Nevanlinna H, Aittomäki K, Couch FJ, Fredericksen Z, Lindor NM, Godwin A, Isaacs C, Caligo MA, Loman N, Jernström H, Barbany-Bustinza G, Liljegren A, Ehrencrona H, Stenmark-Askmalm M; Sw E-BRCA; Feliubadaló L, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Fortuzzi S, Johannsson OT, Chenevix-Trench G, Chen XC, Beesley J, Spurdle AB; kConFab; Sinilnikova OM, Healey S, McGuffog L, Antoniou AC, Brunet J, Radice P, Benítez J; CIMBA. Osorio A, et al. Br J Cancer. 2011 Apr 12;104(8):1356-61. doi: 10.1038/bjc.2011.91. Epub 2011 Mar 22. Br J Cancer. 2011. PMID: 21427728 Free PMC article.
Ipilimumab with nivolumab in molecularly selected patients with castration-resistant prostate cancer: primary analysis of the phase II INSPIRE trial.
van Wilpe S, Kloots ISH, Slootbeek PHJ, den Brok M, Westdorp H, Franken MD, Coskunturk M, Osinga T, Bloemendal H, Adema G, Smeenk RJ, Nagarajah J, van Ipenburg J, Kroeze LI, Ligtenberg MJL, Schalken J, Gerritsen WR, Mehra N. van Wilpe S, et al. Among authors: ligtenberg mjl. Ann Oncol. 2024 Dec;35(12):1126-1137. doi: 10.1016/j.annonc.2024.09.004. Epub 2024 Sep 16. Ann Oncol. 2024. PMID: 39293514 Free article. Clinical Trial.
Genomic instability in non-breast or ovarian malignancies of individuals with germline pathogenic variants in BRCA1/2.
Elze L, van der Post RS, Vos JR, Mensenkamp AR, Pamidimarri Naga S, Hampstead JE, Vermeulen E, Oorsprong M, Hofste T, Simons M, Nagtegaal ID, Hoogerbrugge N, de Voer RM, Ligtenberg MJL. Elze L, et al. Among authors: ligtenberg mjl. J Natl Cancer Inst. 2024 Dec 1;116(12):1904-1913. doi: 10.1093/jnci/djae160. J Natl Cancer Inst. 2024. PMID: 38960732 Free PMC article.
190 results