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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 6
2003 6
2004 2
2005 4
2006 6
2007 6
2008 8
2009 10
2010 7
2011 11
2012 7
2013 10
2014 8
2015 15
2016 4
2017 6
2019 12
2020 17
2021 14
2022 11
2023 10
2024 2

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156 results

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Page 1
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Dueñas Rey A, Del Pozo Valero M, Bouckaert M, Wood KA, Van den Broeck F, Daich Varela M, Thomas HB, Van Heetvelde M, De Bruyne M, Van de Sompele S, Bauwens M, Lenaerts H, Mahieu Q, Josifova D; Genomics England Research Consortium; Rivolta C, O'Keefe RT, Ellingford J, Webster AR, Arno G, Ayuso C, De Zaeytijd J, Leroy BP, De Baere E, Coppieters F. Dueñas Rey A, et al. Among authors: thomas hb. Genome Med. 2024 Jan 6;16(1):7. doi: 10.1186/s13073-023-01277-1. Genome Med. 2024. PMID: 38184646 Free PMC article.
The role of GCNT1 mediated O-glycosylation in aggressive prostate cancer.
Hodgson K, Orozco-Moreno M, Scott E, Garnham R, Livermore K, Thomas H, Zhou Y, He J, Bermudez A, Garcia Marques FJ, Bastian K, Hysenaj G, Archer Goode E, Heer R, Pitteri S, Wang N, Elliott DJ, Munkley J. Hodgson K, et al. Among authors: thomas h. Sci Rep. 2023 Oct 9;13(1):17031. doi: 10.1038/s41598-023-43019-8. Sci Rep. 2023. PMID: 37813880 Free PMC article.
Targeting Cytotoxic Agents through EGFR-Mediated Covalent Binding and Release.
Morese PA, Anthony N, Bodnarchuk M, Jennings C, Martin MP, Noble RA, Phillips N, Thomas HD, Wang LZ, Lister A, Noble MEM, Ward RA, Wedge SR, Stewart HL, Waring MJ. Morese PA, et al. Among authors: thomas hd. J Med Chem. 2023 Sep 14;66(17):12324-12341. doi: 10.1021/acs.jmedchem.3c00845. Epub 2023 Aug 30. J Med Chem. 2023. PMID: 37647129 Free PMC article.
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
Smith TB, Rea A, Thomas HB, Thompson K, Oláhová M, Maroofian R, Zamani M, He L, Sadeghian S, Galehdari H, Lotan NS, Gilboa T, Herman KC, McCorvie TJ, Yue WW, Houlden H, Taylor RW, Newman WG, O'Keefe RT. Smith TB, et al. Among authors: thomas hb. Eur J Hum Genet. 2023 Oct;31(10):1190-1194. doi: 10.1038/s41431-023-01437-2. Epub 2023 Aug 9. Eur J Hum Genet. 2023. PMID: 37558808 Free PMC article.
ST6GAL1-mediated aberrant sialylation promotes prostate cancer progression.
Scott E, Archer Goode E, Garnham R, Hodgson K, Orozco-Moreno M, Turner H, Livermore K, Putri Nangkana K, Frame FM, Bermudez A, Jose Garcia Marques F, McClurg UL, Wilson L, Thomas H, Buskin A, Hepburn A, Duxfield A, Bastian K, Pye H, Arredondo HM, Hysenaj G, Heavey S, Stopka-Farooqui U, Haider A, Freeman A, Singh S, Johnston EW, Punwani S, Knight B, McCullagh P, McGrath J, Crundwell M, Harries L, Heer R, Maitland NJ, Whitaker H, Pitteri S, Troyer DA, Wang N, Elliott DJ, Drake RR, Munkley J. Scott E, et al. Among authors: thomas h. J Pathol. 2023 Sep;261(1):71-84. doi: 10.1002/path.6152. Epub 2023 Aug 7. J Pathol. 2023. PMID: 37550801 Free article.
Author Correction: Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair.
Sherwood K, Ward JC, Soriano I, Martin L, Campbell A, Rahbari R, Kafetzopoulos I, Sproul D, Green A, Sampson JR, Donaldson A, Ong KR, Heinimann K, Nielsen M, Thomas H, Latchford A, Palles C, Tomlinson I. Sherwood K, et al. Among authors: thomas h. Nat Commun. 2023 Jun 28;14(1):3836. doi: 10.1038/s41467-023-39587-y. Nat Commun. 2023. PMID: 37380644 Free PMC article. No abstract available.
Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair.
Sherwood K, Ward JC, Soriano I, Martin L, Campbell A, Rahbari R, Kafetzopoulos I, Sproul D, Green A, Sampson JR, Donaldson A, Ong KR, Heinimann K, Nielsen M, Thomas H, Latchford A, Palles C, Tomlinson I. Sherwood K, et al. Among authors: thomas h. Nat Commun. 2023 Jun 19;14(1):3636. doi: 10.1038/s41467-023-39248-0. Nat Commun. 2023. PMID: 37336879 Free PMC article.
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database.
Dominguez-Valentin M, Haupt S, Seppälä TT, Sampson JR, Sunde L, Bernstein I, Jenkins MA, Engel C, Aretz S, Nielsen M, Capella G, Balaguer F, Evans DG, Burn J, Holinski-Feder E, Bertario L, Bonanni B, Lindblom A, Levi Z, Macrae F, Winship I, Plazzer JP, Sijmons R, Laghi L, Della Valle A, Heinimann K, Dębniak T, Fruscio R, Lopez-Koestner F, Alvarez-Valenzuela K, Katz LH, Laish I, Vainer E, Vaccaro C, Carraro DM, Monahan K, Half E, Stakelum A, Winter D, Kennelly R, Gluck N, Sheth H, Abu-Freha N, Greenblatt M, Rossi BM, Bohorquez M, Cavestro GM, Lino-Silva LS, Horisberger K, Tibiletti MG, Nascimento ID, Thomas H, Rossi NT, Apolinário da Silva L, Zaránd A, Ruiz-Bañobre J, Heuveline V, Mecklin JP, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Peltomäki P, Therkildsen C, Madsen MG, Burgdorf SK, Hopper JL, Win AK, Haile RW, Lindor N, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo J, Buchanan DD, Thibodeau SN, von Knebel Doeberitz M, Loeffler M, Rahner N, Schröck E, Steinke-Lange V, Schmiegel W, Vangala D, Perne C, Hüneburg R, Redler S, Büttner R, Weitz J, Pineda M, Duenas N, Vidal JB, Moreira L, Sánchez A, Hovig E, Nakken S, Green K, Lalloo F, Hill J, Crosbie E, Mints M, Goldb… See abstract for full author list ➔ Dominguez-Valentin M, et al. Among authors: thomas h. EClinicalMedicine. 2023 Mar 20;58:101909. doi: 10.1016/j.eclinm.2023.101909. eCollection 2023 Apr. EClinicalMedicine. 2023. PMID: 37181409 Free PMC article.
Upregulation of GALNT7 in prostate cancer modifies O-glycosylation and promotes tumour growth.
Scott E, Hodgson K, Calle B, Turner H, Cheung K, Bermudez A, Marques FJG, Pye H, Yo EC, Islam K, Oo HZ, McClurg UL, Wilson L, Thomas H, Frame FM, Orozco-Moreno M, Bastian K, Arredondo HM, Roustan C, Gray MA, Kelly L, Tolson A, Mellor E, Hysenaj G, Goode EA, Garnham R, Duxfield A, Heavey S, Stopka-Farooqui U, Haider A, Freeman A, Singh S, Johnston EW, Punwani S, Knight B, McCullagh P, McGrath J, Crundwell M, Harries L, Bogdan D, Westaby D, Fowler G, Flohr P, Yuan W, Sharp A, de Bono J, Maitland NJ, Wisnovsky S, Bertozzi CR, Heer R, Guerrero RH, Daugaard M, Leivo J, Whitaker H, Pitteri S, Wang N, Elliott DJ, Schumann B, Munkley J. Scott E, et al. Among authors: thomas h. Oncogene. 2023 Mar;42(12):926-937. doi: 10.1038/s41388-023-02604-x. Epub 2023 Feb 1. Oncogene. 2023. PMID: 36725887 Free PMC article.
156 results