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FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency.
Rota IA, Handel AE, Maio S, Klein F, Dhalla F, Deadman ME, Cheuk S, Newman JA, Michaels YS, Zuklys S, Prevot N, Hublitz P, Charles PD, Gkazi AS, Adamopoulou E, Qasim W, Davies EG, Hanson I, Pagnamenta AT, Camps C, Dreau HM, White A, James K, Fischer R, Gileadi O, Taylor JC, Fulga T, Lagerholm BC, Anderson G, Sezgin E, Holländer GA. Rota IA, et al. Among authors: dreau hm. Sci Adv. 2021 Dec 3;7(49):eabj9247. doi: 10.1126/sciadv.abj9247. Epub 2021 Dec 3. Sci Adv. 2021. PMID: 34860543 Free PMC article.
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.
Schwarze K, Buchanan J, Fermont JM, Dreau H, Tilley MW, Taylor JM, Antoniou P, Knight SJL, Camps C, Pentony MM, Kvikstad EM, Harris S, Popitsch N, Pagnamenta AT, Schuh A, Taylor JC, Wordsworth S. Schwarze K, et al. Genet Med. 2020 Jan;22(1):85-94. doi: 10.1038/s41436-019-0618-7. Epub 2019 Jul 30. Genet Med. 2020. PMID: 31358947 Free PMC article.
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.
Baxley RM, Leung W, Schmit MM, Matson JP, Yin L, Oram MK, Wang L, Taylor J, Hedberg J, Rogers CB, Harvey AJ, Basu D, Taylor JC, Pagnamenta AT, Dreau H, Craft J, Ormondroyd E, Watkins H, Hendrickson EA, Mace EM, Orange JS, Aihara H, Stewart GS, Blair E, Cook JG, Bielinsky AK. Baxley RM, et al. Nat Commun. 2021 Mar 12;12(1):1626. doi: 10.1038/s41467-021-21878-x. Nat Commun. 2021. PMID: 33712616 Free PMC article.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer.
Purshouse K, Schuh A, Fairfax BP, Knight S, Antoniou P, Dreau H, Popitsch N, Gatter K, Roberts I, Browning L, Traill Z, Kerr D, Verrill C, Tuthill M, Taylor JC, Protheroe A. Purshouse K, et al. Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001362. doi: 10.1101/mcs.a001362. Cold Spring Harb Mol Case Stud. 2017. PMID: 28487881 Free PMC article.
Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL.
Klintman J, Barmpouti K, Knight SJL, Robbe P, Dreau H, Clifford R, Ridout K, Burns A, Timbs A, Bruce D, Antoniou P, Sosinsky A, Becq J, Bentley D, Hillmen P, Taylor JC, Caulfield M, Schuh AH. Klintman J, et al. Br J Haematol. 2018 Aug;182(3):412-417. doi: 10.1111/bjh.15406. Epub 2018 May 29. Br J Haematol. 2018. PMID: 29808933 Free article.
SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage.
Clifford R, Louis T, Robbe P, Ackroyd S, Burns A, Timbs AT, Wright Colopy G, Dreau H, Sigaux F, Judde JG, Rotger M, Telenti A, Lin YL, Pasero P, Maelfait J, Titsias M, Cohen DR, Henderson SJ, Ross MT, Bentley D, Hillmen P, Pettitt A, Rehwinkel J, Knight SJ, Taylor JC, Crow YJ, Benkirane M, Schuh A. Clifford R, et al. Blood. 2014 Feb 13;123(7):1021-31. doi: 10.1182/blood-2013-04-490847. Epub 2013 Dec 12. Blood. 2014. PMID: 24335234 Free PMC article.
Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.
Schuh A, Dreau H, Knight SJL, Ridout K, Mizani T, Vavoulis D, Colling R, Antoniou P, Kvikstad EM, Pentony MM, Hamblin A, Protheroe A, Parton M, Shah KA, Orosz Z, Athanasou N, Hassan B, Flanagan AM, Ahmed A, Winter S, Harris A, Tomlinson I, Popitsch N, Church D, Taylor JC. Schuh A, et al. Cold Spring Harb Mol Case Stud. 2018 Apr 2;4(2):a002279. doi: 10.1101/mcs.a002279. Print 2018 Apr. Cold Spring Harb Mol Case Stud. 2018. PMID: 29610388 Free PMC article.
36 results