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Page 1
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Hustead V, Mascotti K, Schultz R, Hallam L, McRae D, Nicholson AG, Newbury R, Durham-O'Donnell J, Knight G, Kini U, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C. Stankiewicz P, et al. Among authors: nicholson ag. Am J Hum Genet. 2009 Jun;84(6):780-91. doi: 10.1016/j.ajhg.2009.05.005. Epub 2009 Jun 4. Am J Hum Genet. 2009. PMID: 19500772 Free PMC article.
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
Fassad MR, Shoemark A, Legendre M, Hirst RA, Koll F, le Borgne P, Louis B, Daudvohra F, Patel MP, Thomas L, Dixon M, Burgoyne T, Hayes J, Nicholson AG, Cullup T, Jenkins L, Carr SB, Aurora P, Lemullois M, Aubusson-Fleury A, Papon JF, O'Callaghan C, Amselem S, Hogg C, Escudier E, Tassin AM, Mitchison HM. Fassad MR, et al. Among authors: nicholson ag. Am J Hum Genet. 2018 Dec 6;103(6):984-994. doi: 10.1016/j.ajhg.2018.10.016. Epub 2018 Nov 21. Am J Hum Genet. 2018. PMID: 30471717 Free PMC article.
MHC Hammer reveals genetic and non-genetic HLA disruption in cancer evolution.
Puttick C, Jones TP, Leung MM, Galvez-Cancino F, Liu J, Varas-Godoy M, Rowan A, Pich O, Martinez-Ruiz C, Bentham R, Dijkstra KK, Black JRM, Rosenthal R, Kanu N, Litchfield K, Salgado R, Moore DA, Van Loo P, Jamal-Hanjani M, Quezada SA; TRACERx Consortium; Swanton C, McGranahan N. Puttick C, et al. Nat Genet. 2024 Oct;56(10):2121-2131. doi: 10.1038/s41588-024-01883-8. Epub 2024 Oct 2. Nat Genet. 2024. PMID: 39358601 Free PMC article.
Genomic analysis defines distinct pancreatic and neuronal subtypes of lung carcinoid.
Domingo-Sabugo C, Willis-Owen SA, Mandal A, Nastase A, Dwyer S, Brambilla C, Gálvez JH, Zhuang Q, Popat S, Eveleigh R, Munter M, Lim E, Nicholson AG, Lathrop GM, Cookson WO, Moffatt MF. Domingo-Sabugo C, et al. Among authors: nicholson ag. J Pathol. 2024 Nov;264(3):332-343. doi: 10.1002/path.6352. Epub 2024 Sep 27. J Pathol. 2024. PMID: 39329437
Author Correction: The evolution of lung cancer and impact of subclonal selection in TRACERx.
Frankell AM, Dietzen M, Al Bakir M, Lim EL, Karasaki T, Ward S, Veeriah S, Colliver E, Huebner A, Bunkum A, Hill MS, Grigoriadis K, Moore DA, Black JRM, Liu WK, Thol K, Pich O, Watkins TBK, Naceur-Lombardelli C, Cook DE, Salgado R, Wilson GA, Bailey C, Angelova M, Bentham R, Martínez-Ruiz C, Abbosh C, Nicholson AG, Le Quesne J, Biswas D, Rosenthal R, Puttick C, Hessey S, Lee C, Prymas P, Toncheva A, Smith J, Xing W, Nicod J, Price G, Kerr KM, Naidu B, Middleton G, Blyth KG, Fennell DA, Forster MD, Lee SM, Falzon M, Hewish M, Shackcloth MJ, Lim E, Benafif S, Russell P, Boleti E, Krebs MG, Lester JF, Papadatos-Pastos D, Ahmad T, Thakrar RM, Lawrence D, Navani N, Janes SM, Dive C, Blackhall FH, Summers Y, Cave J, Marafioti T, Herrero J, Quezada SA, Peggs KS, Schwarz RF, Van Loo P, Miedema DM, Birkbak NJ, Hiley CT, Hackshaw A, Zaccaria S; TRACERx Consortium; Jamal-Hanjani M, McGranahan N, Swanton C. Frankell AM, et al. Among authors: nicholson ag. Nature. 2024 Jul;631(8022):E15. doi: 10.1038/s41586-024-07738-w. Nature. 2024. PMID: 38965439 Free PMC article. No abstract available.
Mixed responses to targeted therapy driven by chromosomal instability through p53 dysfunction and genome doubling.
Hobor S, Al Bakir M, Hiley CT, Skrzypski M, Frankell AM, Bakker B, Watkins TBK, Markovets A, Dry JR, Brown AP, van der Aart J, van den Bos H, Spierings D, Oukrif D, Novelli M, Chakrabarti T, Rabinowitz AH, Ait Hassou L, Litière S, Kerr DL, Tan L, Kelly G, Moore DA, Renshaw MJ, Venkatesan S, Hill W, Huebner A, Martínez-Ruiz C, Black JRM, Wu W, Angelova M, McGranahan N, Downward J, Chmielecki J, Barrett C, Litchfield K, Chew SK, Blakely CM, de Bruin EC, Foijer F, Vousden KH, Bivona TG; TRACERx consortium; Hynds RE, Kanu N, Zaccaria S, Grönroos E, Swanton C. Hobor S, et al. Nat Commun. 2024 Jun 13;15(1):4871. doi: 10.1038/s41467-024-47606-9. Nat Commun. 2024. PMID: 38871738 Free PMC article.
Representation of genomic intratumor heterogeneity in multi-region non-small cell lung cancer patient-derived xenograft models.
Hynds RE, Huebner A, Pearce DR, Hill MS, Akarca AU, Moore DA, Ward S, Gowers KHC, Karasaki T, Al Bakir M, Wilson GA, Pich O, Martínez-Ruiz C, Hossain ASMM, Pearce SP, Sivakumar M, Ben Aissa A, Grönroos E, Chandrasekharan D, Kolluri KK, Towns R, Wang K, Cook DE, Bosshard-Carter L, Naceur-Lombardelli C, Rowan AJ, Veeriah S, Litchfield K, Crosbie PAJ, Dive C, Quezada SA, Janes SM, Jamal-Hanjani M, Marafioti T; TRACERx consortium; McGranahan N, Swanton C. Hynds RE, et al. Nat Commun. 2024 May 31;15(1):4653. doi: 10.1038/s41467-024-47547-3. Nat Commun. 2024. PMID: 38821942 Free PMC article.
566 results