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Items: 1 to 50 of 344

1.

Variation in the Use of Resection for Colorectal Cancer Liver Metastases.

Fenton HM, Taylor JC, Lodge JPA, Toogood GJ, Finan PJ, Young AL, Morris EJA.

Ann Surg. 2019 Nov;270(5):892-898. doi: 10.1097/SLA.0000000000003534.

PMID:
31567507
2.

Time to Surgery Following Short-Course Radiotherapy in Rectal Cancer and its Impact on Postoperative Outcomes. A Population-Based Study Across the English National Health Service, 2009-2014.

Levick BA, Gilbert AJ, Spencer KL, Downing A, Taylor JC, Finan PJ, Sebag-Montefiore DJ, Morris EJA.

Clin Oncol (R Coll Radiol). 2019 Aug 30. pii: S0936-6555(19)30344-9. doi: 10.1016/j.clon.2019.08.008. [Epub ahead of print]

3.

Improving the medication-use process for 23.4% sodium chloride.

Erwin BL, Denaburg MA, Cortopassi JB, Curtis GM, Taylor JC, May CC.

Am J Health Syst Pharm. 2019 Jan 1;76(1):50-56. doi: 10.1093/ajhp/zxy007.

PMID:
31381099
4.

Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.

Pagnamenta AT, Heemeryck P, Martin HC, Bosc C, Peris L, Uszynski I, Gory-Fauré S, Couly S, Deshpande C, Siddiqui A, Elmonairy AA, Jayawant S, Murthy S, Walker I, Loong L, Bauer P, Vossier F, Denarier E, Maurice T, Barbier EL, Deloulme JC, Taylor JC, Blair EM, Andrieux A, Moutin MJ.

Hum Mol Genet. 2019 Jul 31. pii: ddz186. doi: 10.1093/hmg/ddz186. [Epub ahead of print]

PMID:
31363758
5.

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.

Genet Med. 2019 Jul 30. doi: 10.1038/s41436-019-0618-7. [Epub ahead of print]

PMID:
31358947
6.

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalová D, Havlovicová M, Vlckova M, Sedláček Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM.

Am J Hum Genet. 2019 Aug 1;105(2):283-301. doi: 10.1016/j.ajhg.2019.06.016. Epub 2019 Jul 25.

PMID:
31353023
7.

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.

Taylor J, Craft J, Blair E, Wordsworth S, Beeson D, Chandratre S, Cossins J, Lester T, Németh AH, Ormondroyd E, Patel SY, Pagnamenta AT, Taylor JC, Thomson KL, Watkins H, Wilkie AOM, Knight JC.

Genome Med. 2019 Jul 25;11(1):46. doi: 10.1186/s13073-019-0651-9.

8.

Does expertise moderate the seductive allure of reductive explanations?

Hopkins EJ, Weisberg DS, Taylor JCV.

Acta Psychol (Amst). 2019 Jul;198:102890. doi: 10.1016/j.actpsy.2019.102890. Epub 2019 Jul 15.

PMID:
31319279
9.

Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods.

Shields AM, Pagnamenta AT, Pollard AJ; OxClinWGS, Taylor JC, Allroggen H, Patel SY.

Front Immunol. 2019 Jun 7;10:1150. doi: 10.3389/fimmu.2019.01150. eCollection 2019.

10.

Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease.

Buchanan J, Blair E, Thomson KL, Ormondroyd E, Watkins H, Taylor JC, Wordsworth S.

Eur J Hum Genet. 2019 Nov;27(11):1639-1648. doi: 10.1038/s41431-019-0452-z. Epub 2019 Jun 11.

PMID:
31186546
11.

Remission of inflammatory bowel disease in Glucose-6-Phosphatase 3 deficiency by allogeneic haematopoietic stem cell transplantation.

Bolton C, Burch N, Morgan J, Harrison B, Pandey S, Pagnamenta AT, Taylor JC, Taylor JM, Marsh JCW, Potter V, Travis S, Uhlig HH; Oxford IBD cohort investigators.

J Crohns Colitis. 2019 Jun 3. pii: jjz112. doi: 10.1093/ecco-jcc/jjz112. [Epub ahead of print]

PMID:
31157858
12.

Germline selection shapes human mitochondrial DNA diversity.

Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF.

Science. 2019 May 24;364(6442). pii: eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23.

13.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH.

Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9.

PMID:
31079897
14.

Artificial reefs facilitate tropical fish at their range edge.

Paxton AB, Peterson CH, Taylor JC, Adler AM, Pickering EA, Silliman BR.

Commun Biol. 2019 May 6;2:168. doi: 10.1038/s42003-019-0398-2. eCollection 2019.

15.

Sequencing of human genomes with nanopore technology.

Bowden R, Davies RW, Heger A, Pagnamenta AT, de Cesare M, Oikkonen LE, Parkes D, Freeman C, Dhalla F, Patel SY, Popitsch N, Ip CLC, Roberts HE, Salatino S, Lockstone H, Lunter G, Taylor JC, Buck D, Simpson MA, Donnelly P.

Nat Commun. 2019 Apr 23;10(1):1869. doi: 10.1038/s41467-019-09637-5.

16.

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

Pagnamenta AT, Kaisaki PJ, Bennett F, Burkitt-Wright E, Martin HC, Ferla MP, Taylor JM, Gompertz L, Lahiri N, Tatton-Brown K, Newbury-Ecob R, Henderson A, Joss S, Weber A, Carmichael J, Turnpenny PD, McKee S, Forzano F, Ashraf T, Bradbury K, Shears D, Kini U, de Burca A; DDD Study, Blair E, Taylor JC, Stewart H.

Clin Genet. 2019 Jun;95(6):693-703. doi: 10.1111/cge.13533. Epub 2019 Apr 3.

17.

Comparisons of school and home-packed lunches for fruit and vegetable dietary behaviours among school-aged youths.

Taylor JC, Sutter C, Ontai LL, Nishina A, Zidenberg-Cherr S.

Public Health Nutr. 2019 Jul;22(10):1850-1857. doi: 10.1017/S136898001900017X. Epub 2019 Feb 26.

PMID:
30803460
18.

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Taylor J, Pagnamenta A, Taylor JC, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel MA, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C; DDD Study, Kini U, Philippe C.

Genet Med. 2019 Jul;21(7):1667-1671. doi: 10.1038/s41436-019-0460-y.

PMID:
30783266
19.

Clinical spectrum of STX1B-related epileptic disorders.

Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J.

Neurology. 2019 Mar 12;92(11):e1238-e1249. doi: 10.1212/WNL.0000000000007089. Epub 2019 Feb 8.

20.

Dynamics of predator-prey habitat use and behavioral interactions over diel periods at sub-tropical reefs.

Campanella F, Auster PJ, Taylor JC, Muñoz RC.

PLoS One. 2019 Feb 6;14(2):e0211886. doi: 10.1371/journal.pone.0211886. eCollection 2019.

21.

Rectal cancer in old age -is it appropriately managed? Evidence from population-based analysis of routine data across the English national health service.

Birch RJ, Taylor JC, Downing A, Spencer K, Finan PJ, Audisio RA, Carrigan CM, Selby PJ, Morris EJA.

Eur J Surg Oncol. 2019 Jul;45(7):1196-1204. doi: 10.1016/j.ejso.2019.01.005. Epub 2019 Jan 7.

22.

2015 UK software audit of hepatobiliary scintigraphy.

O'Shaughnessy ER, Murray A, Taylor JC, Barnfield M, Cullis J, Cade S, Kenny B, Carson KJ, Towey DJ, White D; Institute of Physics and Engineering in Medicine, Nuclear Medicine Software Quality Group.

Nucl Med Commun. 2019 Feb;40(2):136-144. doi: 10.1097/MNM.0000000000000948.

PMID:
30650067
23.

Publisher Correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

Duffy DL, Zhu G, Li X, Sanna M, Iles MM, Jacobs LC, Evans DM, Yazar S, Beesley J, Law MH, Kraft P, Visconti A, Taylor JC, Liu F, Wright MJ, Henders AK, Bowdler L, Glass D, Ikram MA, Uitterlinden AG, Madden PA, Heath AC, Nelson EC, Green AC, Chanock S, Barrett JH, Brown MA, Hayward NK, MacGregor S, Sturm RA, Hewitt AW; Melanoma GWAS Consortium, Kayser M, Hunter DJ, Newton Bishop JA, Spector TD, Montgomery GW, Mackey DA, Smith GD, Nijsten TE, Bishop DT, Bataille V, Falchi M, Han J, Martin NG.

Nat Commun. 2019 Jan 14;10(1):299. doi: 10.1038/s41467-018-08078-w.

24.

Salvage or Solution: Alloplastic Reconstruction in Hemifacial Microsomia.

Polley JW, Girotto JA, Fahrenkopf MP, Dietze-Fiedler ML, Kelley JP, Taylor JC, Lazarou SA, Demetriades NC.

Cleft Palate Craniofac J. 2019 Aug;56(7):896-901. doi: 10.1177/1055665618817669. Epub 2018 Dec 13.

PMID:
30543122
25.

Parental and family predictors of fruits and vegetables in elementary school children's home-packed lunches across a school week.

Sutter C, Taylor JC, Nishina A, Ontai LL.

Appetite. 2019 Feb 1;133:423-432. doi: 10.1016/j.appet.2018.12.003. Epub 2018 Dec 8.

PMID:
30537528
26.

Deep learning for detecting tumour-infiltrating lymphocytes in testicular germ cell tumours.

Linder N, Taylor JC, Colling R, Pell R, Alveyn E, Joseph J, Protheroe A, Lundin M, Lundin J, Verrill C.

J Clin Pathol. 2019 Feb;72(2):157-164. doi: 10.1136/jclinpath-2018-205328. Epub 2018 Dec 5.

PMID:
30518631
27.

People's explanatory preferences for scientific phenomena.

Weisberg DS, Hopkins EJ, Taylor JCV.

Cogn Res Princ Implic. 2018 Nov 21;3(1):44. doi: 10.1186/s41235-018-0135-2.

28.

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.

Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, Lise S, Taylor JC, Terrone G, Vitiello G, Del Giudice E, Brunetti-Pierri N, D'Amico A, Reymond A, Voisin N, Bernstein JA, Farrelly E, Kini U, Leonard TA, Valence S, Burglen L, Armstrong L, Hiatt SM, Cooper GM, Aldinger KA, Dobyns WB, Mirzaa G, Pierson TM, Baas F, Chelly J, Cowan NJ, Keays DA.

Neuron. 2018 Dec 19;100(6):1354-1368.e5. doi: 10.1016/j.neuron.2018.10.044. Epub 2018 Nov 15.

PMID:
30449657
29.

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

Duffy DL, Zhu G, Li X, Sanna M, Iles MM, Jacobs LC, Evans DM, Yazar S, Beesley J, Law MH, Kraft P, Visconti A, Taylor JC, Liu F, Wright MJ, Henders AK, Bowdler L, Glass D, Ikram MA, Uitterlinden AG, Madden PA, Heath AC, Nelson EC, Green AC, Chanock S, Barrett JH, Brown MA, Hayward NK, MacGregor S, Sturm RA, Hewitt AW; Melanoma GWAS Consortium, Kayser M, Hunter DJ, Newton Bishop JA, Spector TD, Montgomery GW, Mackey DA, Smith GD, Nijsten TE, Bishop DT, Bataille V, Falchi M, Han J, Martin NG.

Nat Commun. 2018 Nov 14;9(1):4774. doi: 10.1038/s41467-018-06649-5. Erratum in: Nat Commun. 2019 Jan 14;10(1):299.

30.

A novel role for CRIM1 in the corneal response to UV and pterygium development.

Maurizi E, Schiroli D, Atkinson SD, Mairs L, Courtney DG, O'Hagan B, McGilligan VE, Pagnamenta AT, Taylor JC, Vasquez JJD, Illanes-Velarde DE, Goldsmith D, Gouws P, Moore JE, Nesbit MA, Moore CBT.

Exp Eye Res. 2019 Feb;179:75-92. doi: 10.1016/j.exer.2018.10.012. Epub 2018 Oct 24.

PMID:
30365943
31.

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Taylor J, Pagnamenta A, Taylor JC, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel MA, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C; DDD Study, Kini U, Philippe C.

Genet Med. 2019 Jun;21(6):1308-1318. doi: 10.1038/s41436-018-0339-3. Epub 2018 Oct 25. Erratum in: Genet Med. 2019 Feb 20;:.

32.

Prediction of treatment response in rheumatoid arthritis patients using genome-wide SNP data.

Cherlin S, Plant D, Taylor JC, Colombo M, Spiliopoulou A, Tzanis E, Morgan AW, Barnes MR, McKeigue P, Barrett JH, Pitzalis C, Barton A, Consortium M, Cordell HJ.

Genet Epidemiol. 2018 Dec;42(8):754-771. doi: 10.1002/gepi.22159. Epub 2018 Oct 12.

33.

Mutation burden and other molecular markers of prognosis in colorectal cancer treated with curative intent: results from the QUASAR 2 clinical trial and an Australian community-based series.

Domingo E, Camps C, Kaisaki PJ, Parsons MJ, Mouradov D, Pentony MM, Makino S, Palmieri M, Ward RL, Hawkins NJ, Gibbs P, Askautrud H, Oukrif D, Wang H, Wood J, Tomlinson E, Bark Y, Kaur K, Johnstone EC, Palles C, Church DN, Novelli M, Danielsen HE, Sherlock J, Kerr D, Kerr R, Sieber O, Taylor JC, Tomlinson I.

Lancet Gastroenterol Hepatol. 2018 Sep;3(9):635-643. doi: 10.1016/S2468-1253(18)30117-1. Epub 2018 Jul 2.

34.

Colorectal Cancer Stratification in the Routine Clinical Pathway: A District General Hospital Experience.

Wedden S, Miller K, Frayling IM, Thomas T, Chefani A, Miller K, Hamblin A, Taylor JC, D'Arrigo C.

Appl Immunohistochem Mol Morphol. 2019 Jul;27(6):e54-e62. doi: 10.1097/PAI.0000000000000631.

PMID:
29985199
35.

An evolution during a century of leadership, scholarship, mentorship, and fellowship.

Taylor JC, Lefebvre CA, Weber HP, Masri R, Wu BM.

J Prosthet Dent. 2018 Jun;119(6):865-866. doi: 10.1016/j.prosdent.2018.04.004. No abstract available.

PMID:
29980271
36.

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.

Lenglet M, Robriquet F, Schwarz K, Camps C, Couturier A, Hoogewijs D, Buffet A, Knight SJL, Gad S, Couvé S, Chesnel F, Pacault M, Lindenbaum P, Job S, Dumont S, Besnard T, Cornec M, Dreau H, Pentony M, Kvikstad E, Deveaux S, Burnichon N, Ferlicot S, Vilaine M, Mazzella JM, Airaud F, Garrec C, Heidet L, Irtan S, Mantadakis E, Bouchireb K, Debatin KM, Redon R, Bezieau S, Bressac-de Paillerets B, Teh BT, Girodon F, Randi ML, Putti MC, Bours V, Van Wijk R, Göthert JR, Kattamis A, Janin N, Bento C, Taylor JC, Arlot-Bonnemains Y, Richard S, Gimenez-Roqueplo AP, Cario H, Gardie B.

Blood. 2018 Aug 2;132(5):469-483. doi: 10.1182/blood-2018-03-838235. Epub 2018 Jun 11.

37.

Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies.

Cust AE, Drummond M, Kanetsky PA; Australian Melanoma Family Study Investigators; Leeds Case-Control Study Investigators, Goldstein AM, Barrett JH, MacGregor S, Law MH, Iles MM, Bui M, Hopper JL, Brossard M, Demenais F, Taylor JC, Hoggart C, Brown KM, Landi MT, Newton-Bishop JA, Mann GJ, Bishop DT.

J Invest Dermatol. 2018 Dec;138(12):2617-2624. doi: 10.1016/j.jid.2018.05.023. Epub 2018 Jun 8.

38.

Removal of selenate from brine using anaerobic bacteria and zero valent iron.

Liu J, Taylor JC, Baldwin SA.

J Environ Manage. 2018 Sep 15;222:348-358. doi: 10.1016/j.jenvman.2018.05.095. Epub 2018 Jun 2.

PMID:
29870963
39.

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.

Br J Haematol. 2018 Aug;182(3):412-417. doi: 10.1111/bjh.15406. Epub 2018 May 29.

PMID:
29808933
40.

Genome-wide association study of response to methotrexate in early rheumatoid arthritis patients.

Taylor JC, Bongartz T, Massey J, Mifsud B, Spiliopoulou A, Scott IC, Wang J, Morgan M, Plant D, Colombo M, Orchard P, Twigg S, McInnes IB, Porter D, Freeston JE, Nam JL, Cordell HJ, Isaacs JD, Strathdee JL, Arnett D, de Hair MJH, Tak PP, Aslibekyan S, van Vollenhoven RF, Padyukov L, Bridges SL, Pitzalis C, Cope AP, Verstappen SMM, Emery P, Barnes MR, Agakov F, McKeigue P, Mushiroda T, Kubo M, Weinshilboum R, Barton A, Morgan AW, Barrett JH; MATURA; and PAMERA; Consortia.

Pharmacogenomics J. 2018 Jul;18(4):528-538. doi: 10.1038/s41397-018-0025-5. Epub 2018 May 25. Review.

41.

Computer-aided diagnosis for (123I)FP-CIT imaging: impact on clinical reporting.

Taylor JC, Romanowski C, Lorenz E, Lo C, Bandmann O, Fenner J.

EJNMMI Res. 2018 May 8;8(1):36. doi: 10.1186/s13550-018-0393-5.

42.

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.

Cold Spring Harb Mol Case Stud. 2018 Apr 2;4(2). pii: a002279. doi: 10.1101/mcs.a002279. Print 2018 Apr.

43.

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D, Van Gool IC, Rayner E, Glaire M, Makino S, Brown M, Chegwidden L, Palles C, Depreeuw J, Beggs A, Stathopoulou C, Mason J, Baker AM, Williams M, Cerundolo V, Rei M, Taylor JC, Schuh A, Ahmed A, Amant F, Lambrechts D, Smit VT, Bosse T, Graham TA, Church DN, Tomlinson I.

J Pathol. 2018 Jul;245(3):283-296. doi: 10.1002/path.5081. Epub 2018 Apr 30.

44.

Publisher correction: Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148.

Fang J, Jia J, Makowski M, Xu M, Wang Z, Zhang T, Hoskins JW, Choi J, Han Y, Zhang M, Thomas J, Kovacs M, Collins I, Dzyadyk M, Thompson A, O'Neill M, Das S, Lan Q, Koster R, Stolzenberg-Solomon RS, Kraft P, Wolpin BM, Jansen PWTC, Olson S, McGlynn KA, Kanetsky PA, Chatterjee N, Barrett JH, Dunning AM, Taylor JC, Newton-Bishop JA, Timothy Bishop D, Andresson T, Petersen GM, Amos CI, Iles MM, Nathanson KL, Teresa Landi M, Vermeulen M, Brown KM, Amundadottir LT.

Nat Commun. 2018 Mar 5;9:16159. doi: 10.1038/ncomms16159.

45.

A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.

Pagnamenta AT, Murakami Y, Anzilotti C, Titheradge H, Oates AJ, Morton J; DDD Study, Kinoshita T, Kini U, Taylor JC.

Hum Mutat. 2018 Jun;39(6):822-826. doi: 10.1002/humu.23420. Epub 2018 Mar 30.

46.

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network, Zenker M, Lee B, Biesecker LG.

Genet Med. 2018 Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22.

47.

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.

Schwarze K, Buchanan J, Taylor JC, Wordsworth S.

Genet Med. 2018 Oct;20(10):1122-1130. doi: 10.1038/gim.2017.247. Epub 2018 Feb 15.

PMID:
29446766
48.

Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study.

Mackley MP, Blair E, Parker M, Taylor JC, Watkins H, Ormondroyd E.

Eur J Hum Genet. 2018 May;26(5):652-659. doi: 10.1038/s41431-018-0106-6. Epub 2018 Feb 13.

49.

A high throughput screen for active human transposable elements.

Kvikstad EM, Piazza P, Taylor JC, Lunter G.

BMC Genomics. 2018 Feb 1;19(1):115. doi: 10.1186/s12864-018-4485-4.

50.

Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project.

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