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Items: 1 to 50 of 325

1.

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 Feb 8. pii: 10.1212/WNL.0000000000007089. doi: 10.1212/WNL.0000000000007089. [Epub ahead of print]

PMID:
30737342
2.

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.

3.

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 Jan 7. pii: S0748-7983(19)30005-8. doi: 10.1016/j.ejso.2019.01.005. [Epub ahead of print]

4.

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
5.

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.

6.

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. 2018 Dec 13:1055665618817669. doi: 10.1177/1055665618817669. [Epub ahead of print]

PMID:
30543122
7.

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
8.

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
9.

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.

10.

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
11.

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.

12.

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
13.

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.

14.

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.

15.

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. 2018 Jul 5. doi: 10.1097/PAI.0000000000000631. [Epub ahead of print]

PMID:
29985199
16.

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
17.

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.

18.

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.

19.

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
20.

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 May 29. doi: 10.1111/bjh.15406. [Epub ahead of print]

PMID:
29808933
21.

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; PAMERA; Consortia.

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

22.

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.

23.

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.

24.

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.

25.

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.

26.

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.

27.

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.

28.

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. Review.

PMID:
29446766
29.

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.

30.

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.

31.

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

Robbe P, Popitsch N, Knight SJL, Antoniou P, Becq J, He M, Kanapin A, Samsonova A, Vavoulis DV, Ross MT, Kingsbury Z, Cabes M, Ramos SDC, Page S, Dreau H, Ridout K, Jones LJ, Tuff-Lacey A, Henderson S, Mason J, Buffa FM, Verrill C, Maldonado-Perez D, Roxanis I, Collantes E, Browning L, Dhar S, Damato S, Davies S, Caulfield M, Bentley DR, Taylor JC, Turnbull C, Schuh A; 100,000 Genomes Project.

Genet Med. 2018 Oct;20(10):1196-1205. doi: 10.1038/gim.2017.241. Epub 2018 Feb 1.

PMID:
29388947
32.

The subresolution DaTSCAN phantom: a cost-effective, flexible alternative to traditional phantom technology.

Taylor JC, Vennart N, Negus I, Holmes R, Bandmann O, Lo C, Fenner J.

Nucl Med Commun. 2018 Mar;39(3):268-275. doi: 10.1097/MNM.0000000000000801.

33.

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.

Conti V, Carabalona A, Pallesi-Pocachard E, Leventer RJ, Schaller F, Parrini E, Deparis AA, Watrin F, Buhler E, Novara F, Lise S, Pagnamenta AT, Kini U, Taylor JC, Zuffardi O, Represa A, Keays DA, Guerrini R, Falace A, Cardoso C.

J Vis Exp. 2017 Dec 1;(130). doi: 10.3791/53570.

PMID:
29286390
34.

"Not pathogenic until proven otherwise": perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project.

Ormondroyd E, Mackley MP, Blair E, Craft J, Knight JC, Taylor JC, Taylor J, Watkins H.

Genet Med. 2018 Mar;20(3):320-328. doi: 10.1038/gim.2017.157. Epub 2017 Oct 26.

35.
36.

Conventional and technical diving surveys reveal elevated biomass and differing fish community composition from shallow and upper mesophotic zones of a remote United States coral reef.

Muñoz RC, Buckel CA, Whitfield PE, Viehman S, Clark R, Taylor JC, Degan BP, Hickerson EL.

PLoS One. 2017 Nov 21;12(11):e0188598. doi: 10.1371/journal.pone.0188598. eCollection 2017.

37.

Characterisation of the changing genomic landscape of metastatic melanoma using cell free DNA.

Cutts A, Venn O, Dilthey A, Gupta A, Vavoulis D, Dreau H, Middleton M, McVean G, Taylor JC, Schuh A.

NPJ Genom Med. 2017 Sep 4;2:25. doi: 10.1038/s41525-017-0030-7.

38.

The Modular Optical Underwater Survey System.

Amin R, Richards BL, Misa WFXE, Taylor JC, Miller DR, Rollo AK, Demarke C, Singh H, Young GC, Childress J, Ossolinski JE, Reardon RT, Koyanagi KH.

Sensors (Basel). 2017 Oct 11;17(10). pii: E2309. doi: 10.3390/s17102309.

39.

A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.

Davies B, Brown LA, Cais O, Watson J, Clayton AJ, Chang VT, Biggs D, Preece C, Hernandez-Pliego P, Krohn J, Bhomra A, Twigg SRF, Rimmer A, Kanapin A; WGS500 Consortium, Sen A, Zaiwalla Z, McVean G, Foster R, Donnelly P, Taylor JC, Blair E, Nutt D, Aricescu AR, Greger IH, Peirson SN, Flint J, Martin HC.

Hum Mol Genet. 2017 Oct 15;26(20):3869-3882. doi: 10.1093/hmg/ddx270.

40.

Exploring the potential duty of care in clinical genomics under UK law.

Mitchell C, Ploem C, Chico V, Ormondroyd E, Hall A, Wallace S, Fay M, Goodwin D, Bell J, Phillips S, Taylor JC, Hennekam R, Kaye J.

Med Law Int. 2017 Sep;17(3):158-182. doi: 10.1177/0968533217721966. Epub 2017 Aug 14.

41.

Flat and complex temperate reefs provide similar support for fish: Evidence for a unimodal species-habitat relationship.

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

PLoS One. 2017 Sep 5;12(9):e0183906. doi: 10.1371/journal.pone.0183906. eCollection 2017.

42.

Feasibility and reliability of digital imaging for estimating food selection and consumption from students' packed lunches.

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

Appetite. 2018 Jan 1;120:196-204. doi: 10.1016/j.appet.2017.08.037. Epub 2017 Sep 9.

PMID:
28870835
43.

Using Genomic Information to Guide Ibrutinib Treatment Decisions in Chronic Lymphocytic Leukaemia: A Cost-Effectiveness Analysis.

Buchanan J, Wordsworth S, Clifford R, Robbe P, Taylor JC, Schuh A, Knight SJL.

Pharmacoeconomics. 2017 Aug;35(8):845-858. doi: 10.1007/s40273-017-0519-z.

44.

Effects of deployment on diet quality and nutritional status markers of elite U.S. Army special operations forces soldiers.

Farina EK, Taylor JC, Means GE, Murphy NE, Pasiakos SM, Lieberman HR, McClung JP.

Nutr J. 2017 Jul 3;16(1):41. doi: 10.1186/s12937-017-0262-5.

45.

Hierarchical probabilistic models for multiple gene/variant associations based on next-generation sequencing data.

Vavoulis DV, Taylor JC, Schuh A.

Bioinformatics. 2017 Oct 1;33(19):3058-3064. doi: 10.1093/bioinformatics/btx355.

46.

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.

Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001362. doi: 10.1101/mcs.a001362.

47.

UK audit of quantitative thyroid uptake imaging.

Taylor JC, Murray AW, Hall DO, Barnfield MC, O'Shaugnessy ER, Carson KJ, Cullis J, Towey DJ, Kenny B.

Nucl Med Commun. 2017 Jul;38(7):608-616. doi: 10.1097/MNM.0000000000000681.

PMID:
28452796
48.

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; PanScan Consortium; TRICL Consortium; GenoMEL Consortium, 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, Bishop DT, Andresson T, Petersen GM, Amos CI, Iles MM, Nathanson KL, Landi MT, Vermeulen M, Brown KM, Amundadottir LT.

Nat Commun. 2017 May 2;8:15034. doi: 10.1038/ncomms15034. Erratum in: Nat Commun. 2018 Mar 05;9:16159.

49.

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.

Pagnamenta AT, Murakami Y, Taylor JM, Anzilotti C, Howard MF, Miller V, Johnson DS, Tadros S, Mansour S, Temple IK, Firth R, Rosser E, Harrison RE, Kerr B, Popitsch N; DDD Study, Kinoshita T, Taylor JC, Kini U.

Eur J Hum Genet. 2017 Jun;25(6):669-679. doi: 10.1038/ejhg.2017.32. Epub 2017 Mar 22.

50.

Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study.

Ormondroyd E, Mackley MP, Blair E, Craft J, Knight JC, Taylor J, Taylor JC, Wilkie AO, Watkins H.

Eur J Hum Genet. 2017 Jun;25(6):680-686. doi: 10.1038/ejhg.2017.37. Epub 2017 Mar 22.

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