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Items: 1 to 50 of 206

1.

Characteristics of early Paget's disease in SQSTM1 mutation carriers: Baseline analysis of the ZiPP study cohort.

Cronin O, Subedi D, Forsyth L, Goodman K, Lewis SC, Keerie C, Walker A, Porteous M, Cetnarskyj R, Lakshminarayan R, Selby P, Hampson G, Chandra R, Ho S, Tobias J, Min SY, McKenna M, Crowley R, Fraser WD, Tang J, Gennari L, Nuti R, Brandi ML, Del Pino-Montes J, Devogelaer JP, Durnez A, Isaia GC, Di Stefano M, Rubio JB, Guanabens N, Seibel M, Walsh JP, Kotowicz MA, Nicholson GC, Duncan EL, Major G, Horne A, Gilchrist N, Ralston SH.

J Bone Miner Res. 2020 Mar 16. doi: 10.1002/jbmr.4007. [Epub ahead of print]

PMID:
32176830
2.

Relationship between neuropsychiatric disorders and cognitive and behavioural change in MND.

McHutchison CA, Leighton DJ, McIntosh A, Cleary E, Warner J, Porteous M, Chandran S, Pal S, Abrahams S.

J Neurol Neurosurg Psychiatry. 2020 Mar;91(3):245-253. doi: 10.1136/jnnp-2019-321737. Epub 2019 Dec 23.

PMID:
31871139
3.

Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium.

Li H, Terry MB, Antoniou AC, Phillips KA, Kast K, Mooij TM, Engel C, Noguès C, Stoppa-Lyonnet D, Lasset C, Berthet P, Mari V, Caron O; GENEPSO study, Barrowdale D, Frost D, Brewer C, Evans DG, Izatt L, Side L, Walker L, Tischkowitz M, Rogers MT, Porteous ME, Snape K; EMBRACE study, Meijers-Heijboer HEJ, Gille JJP, Blok MJ, Hoogerbrugge N; HEBON Investigators, Daly MB, Andrulis IL, Buys SS, John EM, McLachlan SA, Friedlander M; kConFab Investigators, Tan YY, Osorio A, Caldes T, Jakubowska A, Simard J, Singer CF, Olah E, Navratilova M, Foretova L, Gerdes AM, Roos-Blom MJ, Arver B, Olsson H, Schmutzler RK, Hopper JL, Milne RL, Easton DF, Van Leeuwen FE, Rookus MA, Andrieu N, Goldgar DE.

Cancer Epidemiol Biomarkers Prev. 2020 Feb;29(2):368-378. doi: 10.1158/1055-9965.EPI-19-0546. Epub 2019 Dec 2.

PMID:
31792088
4.

Virtual arthroplasty follow-up: five-year data from a district general hospital.

Fisher R, Hamilton V, Reader S, Khatun F, Porteous M.

Ann R Coll Surg Engl. 2020 Mar;102(3):220-224. doi: 10.1308/rcsann.2019.0139. Epub 2019 Nov 22.

PMID:
31755733
5.

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.

Patel VL, Busch EL, Friebel TM, Cronin A, Leslie G, McGuffog L, Adlard J, Agata S, Agnarsson BA, Ahmed M, Aittomäki K, Alducci E, Andrulis IL, Arason A, Arnold N, Artioli G, Arver B, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barnes DR, Barroso A, Barrowdale D, Belotti M, Benitez J, Bertelsen B, Blok MJ, Bodrogi I, Bonadona V, Bonanni B, Bondavalli D, Boonen SE, Borde J, Borg A, Bradbury AR, Brady A, Brewer C, Brunet J, Buecher B, Buys SS, Cabezas-Camarero S, Caldés T, Caliebe A, Caligo MA, Calvello M, Campbell IG, Carnevali I, Carrasco E, Chan TL, Chu ATW, Chung WK, Claes KBM, Collaborators GS, Collaborators E, Cook J, Cortesi L, Couch FJ, Daly MB, Damante G, Darder E, Davidson R, de la Hoya M, Puppa LD, Dennis J, Díez O, Ding YC, Ditsch N, Domchek SM, Donaldson A, Dworniczak B, Easton DF, Eccles DM, Eeles RA, Ehrencrona H, Ejlertsen B, Engel C, Evans DG, Faivre L, Faust U, Feliubadaló L, Foretova L, Fostira F, Fountzilas G, Frost D, García-Barberán V, Garre P, Gauthier-Villars M, Géczi L, Gehrig A, Gerdes AM, Gesta P, Giannini G, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gutierrez-Barrera AM, Hahnen E, Hamann U, Hauke J, Herold N, Hogervorst FBL, Honisch E, Hopper JL, Hulick PJ, Investigators K, Investigators H, Izatt L, Jager A, James P, Janavicius R, Jensen UB, Jensen TD, Johannsson OT, John EM, Joseph V, Kang E, Kast K, Kiiski JI, Kim SW, Kim Z, Ko KP, Konstantopoulou I, Kramer G, Krogh L, Kruse TA, Kwong A, Larsen M, Lasset C, Lautrup C, Lazaro C, Lee J, Lee JW, Lee MH, Lemke J, Lesueur F, Liljegren A, Lindblom A, Llovet P, Lopez-Fernández A, Lopez-Perolio I, Lorca V, Loud JT, Ma ESK, Mai PL, Manoukian S, Mari V, Martin L, Matricardi L, Mebirouk N, Medici V, Meijers-Heijboer HEJ, Meindl A, Mensenkamp AR, Miller C, Gomes DM, Montagna M, Mooij TM, Moserle L, Mouret-Fourme E, Mulligan AM, Nathanson KL, Navratilova M, Nevanlinna H, Niederacher D, Nielsen FCC, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Ong KR, Osorio A, Ott CE, Palli D, Park SK, Parsons MT, Pedersen IS, Peissel B, Peixoto A, Pérez-Segura P, Peterlongo P, Petersen AH, Porteous ME, Pujana MA, Radice P, Ramser J, Rantala J, Rashid MU, Rhiem K, Rizzolo P, Robson ME, Rookus MA, Rossing CM, Ruddy KJ, Santos C, Saule C, Scarpitta R, Schmutzler RK, Schuster H, Senter L, Seynaeve CM, Shah PD, Sharma P, Shin VY, Silvestri V, Simard J, Singer CF, Skytte AB, Snape K, Solano AR, Soucy P, Southey MC, Spurdle AB, Steele L, Steinemann D, Stoppa-Lyonnet D, Stradella A, Sunde L, Sutter C, Tan YY, Teixeira MR, Teo SH, Thomassen M, Tibiletti MG, Tischkowitz M, Tognazzo S, Toland AE, Tommasi S, Torres D, Toss A, Trainer AH, Tung N, van Asperen CJ, van der Baan FH, van der Kolk LE, van der Luijt RB, van Hest LP, Varesco L, Varon-Mateeva R, Viel A, Vierstrate J, Villa R, von Wachenfeldt A, Wagner P, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Wieme G, Yadav S, Yannoukakos D, Yoon SY, Zanzottera C, Zorn KK, D'Amico AV, Freedman ML, Pomerantz MM, Chenevix-Trench G, Antoniou AC, Neuhausen SL, Ottini L, Nielsen HR, Rebbeck TR.

Cancer Res. 2020 Feb 1;80(3):624-638. doi: 10.1158/0008-5472.CAN-19-1840. Epub 2019 Nov 13.

PMID:
31723001
6.

Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study.

Nyberg T, Frost D, Barrowdale D, Evans DG, Bancroft E, Adlard J, Ahmed M, Barwell J, Brady AF, Brewer C, Cook J, Davidson R, Donaldson A, Eason J, Gregory H, Henderson A, Izatt L, Kennedy MJ, Miller C, Morrison PJ, Murray A, Ong KR, Porteous M, Pottinger C, Rogers MT, Side L, Snape K, Walker L, Tischkowitz M, Eeles R, Easton DF, Antoniou AC.

Eur Urol. 2020 Jan;77(1):24-35. doi: 10.1016/j.eururo.2019.08.025. Epub 2019 Sep 6.

7.

Zoledronate in the prevention of Paget's (ZiPP): protocol for a randomised trial of genetic testing and targeted zoledronic acid therapy to prevent SQSTM1-mediated Paget's disease of bone.

Cronin O, Forsyth L, Goodman K, Lewis SC, Keerie C, Walker A, Porteous M, Cetnarskyj R, Ranganath LR, Selby PL, Hampson G, Chandra R, Ho S, Tobias JH, Young-Min S, McKenna MJ, Crowley RK, Fraser WD, Gennari L, Nuti R, Brandi ML, Del Pino-Montes J, Devogelaer JP, Durnez A, Isaia G, Di Stefano M, Guañabens N, Blanch J, Seibel MJ, Walsh JP, Kotowicz MA, Nicholson GC, Duncan EL, Major G, Horne A, Gilchrist NL, Boers M, Murray GD, Charnock K, Wilkinson D, Russell RGG, Ralston SH.

BMJ Open. 2019 Sep 4;9(9):e030689. doi: 10.1136/bmjopen-2019-030689.

8.

RNA sequencing of transplant-stage idiopathic pulmonary fibrosis lung reveals unique pathway regulation.

Sivakumar P, Thompson JR, Ammar R, Porteous M, McCoubrey C, Cantu E 3rd, Ravi K, Zhang Y, Luo Y, Streltsov D, Beers MF, Jarai G, Christie JD.

ERJ Open Res. 2019 Aug 12;5(3). pii: 00117-2019. doi: 10.1183/23120541.00117-2019. eCollection 2019 Jul.

9.

Lung Innate Lymphoid Cell Composition Is Altered in Primary Graft Dysfunction.

Monticelli LA, Diamond JM, Saenz SA, Tait Wojno ED, Porteous MK, Cantu E, Artis D, Christie JD.

Am J Respir Crit Care Med. 2020 Jan 1;201(1):63-72. doi: 10.1164/rccm.201906-1113OC.

PMID:
31394048
10.

Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study.

Schrijver LH, Olsson H, Phillips KA, Terry MB, Goldgar DE, Kast K, Engel C, Mooij TM, Adlard J, Barrowdale D, Davidson R, Eeles R, Ellis S, Evans DG, Frost D, Izatt L, Porteous ME, Side LE, Walker L, Berthet P, Bonadona V, Leroux D, Mouret-Fourme E, Venat-Bouvet L, Buys SS, Southey MC, John EM, Chung WK, Daly MB, Bane A, van Asperen CJ, Gómez Garcia EB, Mourits MJE, van Os TAM, Roos-Blom MJ, Friedlander ML, McLachlan SA, Singer CF, Tan YY, Foretova L, Navratilova M, Gerdes AM, Caldes T, Simard J, Olah E, Jakubowska A, Arver B, Osorio A, Noguès C, Andrieu N, Easton DF, van Leeuwen FE, Hopper JL, Milne RL, Antoniou AC, Rookus MA; EMBRACE, GENEPSO, BCFR, HEBON, kConFab, and IBCCS.

JNCI Cancer Spectr. 2018 Jun 28;2(2):pky023. doi: 10.1093/jncics/pky023. eCollection 2018 Apr. Erratum in: JNCI Cancer Spectr. 2018 Aug 17;2(3):pky041.

11.

The association of post-lung transplant acute kidney injury with mortality is independent of primary graft dysfunction: A cohort study.

Shashaty MGS, Forker CM, Miano TA, Wu Q, Yang W, Oyster ML, Porteous MK, Cantu EE 3rd, Diamond JM, Christie JD.

Clin Transplant. 2019 Oct;33(10):e13678. doi: 10.1111/ctr.13678. Epub 2019 Aug 28.

PMID:
31355953
12.

Orthopaedic registries - the UK view (National Joint Registry): impact on practice.

Porter M, Armstrong R, Howard P, Porteous M, Wilkinson JM.

EFORT Open Rev. 2019 Jun 3;4(6):377-390. doi: 10.1302/2058-5241.4.180084. eCollection 2019 Jun. Review.

13.

Resequencing Study Confirms That Host Defense and Cell Senescence Gene Variants Contribute to the Risk of Idiopathic Pulmonary Fibrosis.

Moore C, Blumhagen RZ, Yang IV, Walts A, Powers J, Walker T, Bishop M, Russell P, Vestal B, Cardwell J, Markin CR, Mathai SK, Schwarz MI, Steele MP, Lee J, Brown KK, Loyd JE, Crapo JD, Silverman EK, Cho MH, James JA, Guthridge JM, Cogan JD, Kropski JA, Swigris JJ, Bair C, Kim DS, Ji W, Kim H, Song JW, Maier LA, Pacheco KA, Hirani N, Poon AS, Li F, Jenkins RG, Braybrooke R, Saini G, Maher TM, Molyneaux PL, Saunders P, Zhang Y, Gibson KF, Kass DJ, Rojas M, Sembrat J, Wolters PJ, Collard HR, Sundy JS, O'Riordan T, Strek ME, Noth I, Ma SF, Porteous MK, Kreider ME, Patel NB, Inoue Y, Hirose M, Arai T, Akagawa S, Eickelberg O, Fernandez IE, Behr J, Mogulkoc N, Corte TJ, Glaspole I, Tomassetti S, Ravaglia C, Poletti V, Crestani B, Borie R, Kannengiesser C, Parfrey H, Fiddler C, Rassl D, Molina-Molina M, Machahua C, Worboys AM, Gudmundsson G, Isaksson HJ, Lederer DJ, Podolanczuk AJ, Montesi SB, Bendstrup E, Danchel V, Selman M, Pardo A, Henry MT, Keane MP, Doran P, Vašáková M, Sterclova M, Ryerson CJ, Wilcox PG, Okamoto T, Furusawa H, Miyazaki Y, Laurent G, Baltic S, Prele C, Moodley Y, Shea BS, Ohta K, Suzukawa M, Narumoto O, Nathan SD, Venuto DC, Woldehanna ML, Kokturk N, de Andrade JA, Luckhardt T, Kulkarni T, Bonella F, Donnelly SC, McElroy A, Armstong ME, Aranda A, Carbone RG, Puppo F, Beckman KB, Nickerson DA, Fingerlin TE, Schwartz DA.

Am J Respir Crit Care Med. 2019 Jul 15;200(2):199-208. doi: 10.1164/rccm.201810-1891OC.

14.

Postreperfusion plasma endothelial activation markers are associated with acute kidney injury after lung transplantation.

Forker CM, Miano TA, Reilly JP, Oyster ML, Porteous MK, Cantu EE 3rd, Ware LB, Diamond JM, Christie JD, Shashaty MGS.

Am J Transplant. 2019 Aug;19(8):2366-2373. doi: 10.1111/ajt.15402. Epub 2019 May 23.

PMID:
31017370
15.

Negotiating jurisdictional boundaries in response to new genetic possibilities in breast cancer care: The creation of an 'oncogenetic taskscape'.

Wright S, Porteous M, Stirling D, Young O, Gourley C, Hallowell N.

Soc Sci Med. 2019 Mar;225:26-33. doi: 10.1016/j.socscimed.2019.02.020. Epub 2019 Feb 13.

PMID:
30784848
16.

Moving into the mainstream: healthcare professionals' views of implementing treatment focussed genetic testing in breast cancer care.

Hallowell N, Wright S, Stirling D, Gourley C, Young O, Porteous M.

Fam Cancer. 2019 Jul;18(3):293-301. doi: 10.1007/s10689-019-00122-y.

17.

Towards establishing consistency in triage in a tertiary specialty.

McVeigh TP, Donnelly D, Al Shehhi M, Jones EA, Murray A, Wedderburn S, Porteous M, Lynch SA.

Eur J Hum Genet. 2019 Apr;27(4):547-555. doi: 10.1038/s41431-018-0322-0. Epub 2019 Jan 8.

18.

Patients' Views of Treatment-Focused Genetic Testing (TFGT): Some Lessons for the Mainstreaming of BRCA1 and BRCA2 Testing.

Wright S, Porteous M, Stirling D, Lawton J, Young O, Gourley C, Hallowell N.

J Genet Couns. 2018 May 11. doi: 10.1007/s10897-018-0261-5. [Epub ahead of print]

19.

Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study.

Girardi F, Barnes DR, Barrowdale D, Frost D, Brady AF, Miller C, Henderson A, Donaldson A, Murray A, Brewer C, Pottinger C, Evans DG, Eccles D; EMBRACE, Lalloo F, Gregory H, Cook J, Eason J, Adlard J, Barwell J, Ong KR, Walker L, Izatt L, Side LE, Kennedy MJ, Tischkowitz M, Rogers MT, Porteous ME, Morrison PJ, Eeles R, Davidson R, Snape K, Easton DF, Antoniou AC.

Genet Med. 2018 Dec;20(12):1575-1582. doi: 10.1038/gim.2018.44. Epub 2018 Mar 22.

20.

Incidence, risk factors, and clinical implications of post-operative delirium in lung transplant recipients.

Anderson BJ, Chesley CF, Theodore M, Christie C, Tino R, Wysoczanski A, Ramphal K, Oyster M, Kalman L, Porteous MK, Bermudez CA, Cantu E, Kolson DL, Christie JD, Diamond JM.

J Heart Lung Transplant. 2018 Jun;37(6):755-762. doi: 10.1016/j.healun.2018.01.1295. Epub 2018 Feb 2.

21.

Routine germline BRCA1 and BRCA2 testing in patients with ovarian carcinoma: analysis of the Scottish real-life experience.

Rust K, Spiliopoulou P, Tang CY, Bell C, Stirling D, Phang T, Davidson R, Mackean M, Nussey F, Glasspool RM, Reed NS, Sadozye A, Porteous M, McGoldrick T, Ferguson M, Miedzybrodzka Z, McNeish IA, Gourley C.

BJOG. 2018 Oct;125(11):1451-1458. doi: 10.1111/1471-0528.15171. Epub 2018 May 10.

22.

Association of long pentraxin-3 with pulmonary hypertension and primary graft dysfunction in lung transplant recipients.

Diamond JM, Ramphal K, Porteous MK, Cantu E 3rd, Christie JD, Kawut SM; Lung Transplant Outcomes Group.

J Heart Lung Transplant. 2018 Jun;37(6):792-794. doi: 10.1016/j.healun.2017.12.012. Epub 2017 Dec 20. No abstract available.

23.

Cell-free hemoglobin promotes primary graft dysfunction through oxidative lung endothelial injury.

Shaver CM, Wickersham N, McNeil JB, Nagata H, Miller A, Landstreet SR, Kuck JL, Diamond JM, Lederer DJ, Kawut SM, Palmer SM, Wille KM, Weinacker A, Lama VN, Crespo MM, Orens JB, Shah PD, Hage CA, Cantu E 3rd, Porteous MK, Dhillon G, McDyer J, Bastarache JA, Christie JD, Ware LB; Lung Transplant Outcomes Group (LTOG).

JCI Insight. 2018 Jan 25;3(2). pii: 98546. doi: 10.1172/jci.insight.98546. eCollection 2018 Jan 25.

24.

Causes, Preventability, and Cost of Unplanned Rehospitalizations Within 30 Days of Discharge After Lung Transplantation.

Courtwright AM, Zaleski D, Gardo L, Ahya VN, Christie JD, Crespo M, Hadjiliadis D, Lee J, Molina M, Patel N, Porteous M, Cantu EE, Bermudez C, Diamond JM.

Transplantation. 2018 May;102(5):838-844. doi: 10.1097/TP.0000000000002101.

25.

11-Year Mean Follow-Up of Acetabular Impaction Grafting With a Mixture of Bone Graft and Hydroxyapatite Porous Synthetic Bone Substitute.

Abdullah KM, Hussain N, Parsons SJ, Porteous MJL, Atrey A.

J Arthroplasty. 2018 May;33(5):1481-1486. doi: 10.1016/j.arth.2017.11.065. Epub 2017 Dec 6.

PMID:
29291910
26.

Primary Graft Dysfunction After Lung Transplantation.

Porteous MK, Lee JC.

Clin Chest Med. 2017 Dec;38(4):641-654. doi: 10.1016/j.ccm.2017.07.005. Epub 2017 Sep 20. Review.

PMID:
29128015
27.

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.

Milne RL, Kuchenbaecker KB, Michailidou K, Beesley J, Kar S, Lindström S, Hui S, Lemaçon A, Soucy P, Dennis J, Jiang X, Rostamianfar A, Finucane H, Bolla MK, McGuffog L, Wang Q, Aalfs CM; ABCTB Investigators, Adams M, Adlard J, Agata S, Ahmed S, Ahsan H, Aittomäki K, Al-Ejeh F, Allen J, Ambrosone CB, Amos CI, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Auber B, Auer PL, Ausems MGEM, Azzollini J, Bacot F, Balmaña J, Barile M, Barjhoux L, Barkardottir RB, Barrdahl M, Barnes D, Barrowdale D, Baynes C, Beckmann MW, Benitez J, Bermisheva M, Bernstein L, Bignon YJ, Blazer KR, Blok MJ, Blomqvist C, Blot W, Bobolis K, Boeckx B, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Børresen-Dale AL, Bozsik A, Bradbury AR, Brand JS, Brauch H, Brenner H, Bressac-de Paillerets B, Brewer C, Brinton L, Broberg P, Brooks-Wilson A, Brunet J, Brüning T, Burwinkel B, Buys SS, Byun J, Cai Q, Caldés T, Caligo MA, Campbell I, Canzian F, Caron O, Carracedo A, Carter BD, Castelao JE, Castera L, Caux-Moncoutier V, Chan SB, Chang-Claude J, Chanock SJ, Chen X, Cheng TD, Chiquette J, Christiansen H, Claes KBM, Clarke CL, Conner T, Conroy DM, Cook J, Cordina-Duverger E, Cornelissen S, Coupier I, Cox A, Cox DG, Cross SS, Cuk K, Cunningham JM, Czene K, Daly MB, Damiola F, Darabi H, Davidson R, De Leeneer K, Devilee P, Dicks E, Diez O, Ding YC, Ditsch N, Doheny KF, Domchek SM, Dorfling CM, Dörk T, Dos-Santos-Silva I, Dubois S, Dugué PA, Dumont M, Dunning AM, Durcan L, Dwek M, Dworniczak B, Eccles D, Eeles R, Ehrencrona H, Eilber U, Ejlertsen B, Ekici AB, Eliassen AH; EMBRACE, Engel C, Eriksson M, Fachal L, Faivre L, Fasching PA, Faust U, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Foulkes WD, Friedman E, Fritschi L, Frost D, Gabrielson M, Gaddam P, Gammon MD, Ganz PA, Gapstur SM, Garber J, Garcia-Barberan V, García-Sáenz JA, Gaudet MM, Gauthier-Villars M, Gehrig A; GEMO Study Collaborators, Georgoulias V, Gerdes AM, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Goodfellow P, Greene MH, Alnæs GIG, Grip M, Gronwald J, Grundy A, Gschwantler-Kaulich D, Guénel P, Guo Q, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hallberg E, Hamann U, Hamel N, Hankinson S, Hansen TVO, Harrington P, Hart SN, Hartikainen JM, Healey CS; HEBON, Hein A, Helbig S, Henderson A, Heyworth J, Hicks B, Hillemanns P, Hodgson S, Hogervorst FB, Hollestelle A, Hooning MJ, Hoover B, Hopper JL, Hu C, Huang G, Hulick PJ, Humphreys K, Hunter DJ, Imyanitov EN, Isaacs C, Iwasaki M, Izatt L, Jakubowska A, James P, Janavicius R, Janni W, Jensen UB, John EM, Johnson N, Jones K, Jones M, Jukkola-Vuorinen A, Kaaks R, Kabisch M, Kaczmarek K, Kang D, Kast K; kConFab/AOCS Investigators, Keeman R, Kerin MJ, Kets CM, Keupers M, Khan S, Khusnutdinova E, Kiiski JI, Kim SW, Knight JA, Konstantopoulou I, Kosma VM, Kristensen VN, Kruse TA, Kwong A, Lænkholm AV, Laitman Y, Lalloo F, Lambrechts D, Landsman K, Lasset C, Lazaro C, Le Marchand L, Lecarpentier J, Lee A, Lee E, Lee JW, Lee MH, Lejbkowicz F, Lesueur F, Li J, Lilyquist J, Lincoln A, Lindblom A, Lissowska J, Lo WY, Loibl S, Long J, Loud JT, Lubinski J, Luccarini C, Lush M, MacInnis RJ, Maishman T, Makalic E, Kostovska IM, Malone KE, Manoukian S, Manson JE, Margolin S, Martens JWM, Martinez ME, Matsuo K, Mavroudis D, Mazoyer S, McLean C, Meijers-Heijboer H, Menéndez P, Meyer J, Miao H, Miller A, Miller N, Mitchell G, Montagna M, Muir K, Mulligan AM, Mulot C, Nadesan S, Nathanson KL; NBSC Collaborators, Neuhausen SL, Nevanlinna H, Nevelsteen I, Niederacher D, Nielsen SF, Nordestgaard BG, Norman A, Nussbaum RL, Olah E, Olopade OI, Olson JE, Olswold C, Ong KR, Oosterwijk JC, Orr N, Osorio A, Pankratz VS, Papi L, Park-Simon TW, Paulsson-Karlsson Y, Lloyd R, Pedersen IS, Peissel B, Peixoto A, Perez JIA, Peterlongo P, Peto J, Pfeiler G, Phelan CM, Pinchev M, Plaseska-Karanfilska D, Poppe B, Porteous ME, Prentice R, Presneau N, Prokofieva D, Pugh E, Pujana MA, Pylkäs K, Rack B, Radice P, Rahman N, Rantala J, Rappaport-Fuerhauser C, Rennert G, Rennert HS, Rhenius V, Rhiem K, Richardson A, Rodriguez GC, Romero A, Romm J, Rookus MA, Rudolph A, Ruediger T, Saloustros E, Sanders J, Sandler DP, Sangrajrang S, Sawyer EJ, Schmidt DF, Schoemaker MJ, Schumacher F, Schürmann P, Schwentner L, Scott C, Scott RJ, Seal S, Senter L, Seynaeve C, Shah M, Sharma P, Shen CY, Sheng X, Shimelis H, Shrubsole MJ, Shu XO, Side LE, Singer CF, Sohn C, Southey MC, Spinelli JJ, Spurdle AB, Stegmaier C, Stoppa-Lyonnet D, Sukiennicki G, Surowy H, Sutter C, Swerdlow A, Szabo CI, Tamimi RM, Tan YY, Taylor JA, Tejada MI, Tengström M, Teo SH, Terry MB, Tessier DC, Teulé A, Thöne K, Thull DL, Tibiletti MG, Tihomirova L, Tischkowitz M, Toland AE, Tollenaar RAEM, Tomlinson I, Tong L, Torres D, Tranchant M, Truong T, Tucker K, Tung N, Tyrer J, Ulmer HU, Vachon C, van Asperen CJ, Van Den Berg D, van den Ouweland AMW, van Rensburg EJ, Varesco L, Varon-Mateeva R, Vega A, Viel A, Vijai J, Vincent D, Vollenweider J, Walker L, Wang Z, Wang-Gohrke S, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wesseling J, Whittemore AS, Wijnen JT, Willett W, Winqvist R, Wolk A, Wu AH, Xia L, Yang XR, Yannoukakos D, Zaffaroni D, Zheng W, Zhu B, Ziogas A, Ziv E, Zorn KK, Gago-Dominguez M, Mannermaa A, Olsson H, Teixeira MR, Stone J, Offit K, Ottini L, Park SK, Thomassen M, Hall P, Meindl A, Schmutzler RK, Droit A, Bader GD, Pharoah PDP, Couch FJ, Easton DF, Kraft P, Chenevix-Trench G, García-Closas M, Schmidt MK, Antoniou AC, Simard J.

Nat Genet. 2017 Dec;49(12):1767-1778. doi: 10.1038/ng.3785. Epub 2017 Oct 23.

28.

In a Genomic Era, Placental Pathology Still Holds the Key in the Nondysmorphic Stillbirth.

Campbell J, Armstrong K, Palaniappan N, Maher E, Glancy M, Porteous M, Mckenzie KJ, Evans MJ.

Pediatr Dev Pathol. 2018 May-Jun;21(3):308-318. doi: 10.1177/1093526617733373. Epub 2017 Oct 9.

PMID:
28990860
29.

Quantitative Evidence for Revising the Definition of Primary Graft Dysfunction after Lung Transplant.

Cantu E, Diamond JM, Suzuki Y, Lasky J, Schaufler C, Lim B, Shah R, Porteous M, Lederer DJ, Kawut SM, Palmer SM, Snyder LD, Hartwig MG, Lama VN, Bhorade S, Bermudez C, Crespo M, McDyer J, Wille K, Orens J, Shah PD, Weinacker A, Weill D, Wilkes D, Roe D, Hage C, Ware LB, Bellamy SL, Christie JD; Lung Transplant Outcomes Group.

Am J Respir Crit Care Med. 2018 Jan 15;197(2):235-243. doi: 10.1164/rccm.201706-1140OC.

30.

Fetal Dysmorphology-Still an Essential Art. Analysis of the Limitations of Microarray in a Fetal Population and a Look Toward the Genome Sequencing Era.

Fletcher E, Porteous M, McKenzie KJ, Maher EJ, Evans MJ.

Pediatr Dev Pathol. 2017 Jul-Aug;20(4):288-297. doi: 10.1177/1093526617693104. Epub 2017 Jan 1.

PMID:
28727969
31.

Clinical Risk Factors and Prognostic Model for Primary Graft Dysfunction after Lung Transplantation in Patients with Pulmonary Hypertension.

Porteous MK, Lee JC, Lederer DJ, Palmer SM, Cantu E, Shah RJ, Bellamy SL, Lama VN, Bhorade SM, Crespo MM, McDyer JF, Wille KM, Localio AR, Orens JB, Shah PD, Weinacker AB, Arcasoy S, Wilkes DS, Ware LB, Christie JD, Kawut SM, Diamond JM; Lung Transplant Outcomes Group.

Ann Am Thorac Soc. 2017 Oct;14(10):1514-1522. doi: 10.1513/AnnalsATS.201610-810OC.

32.

Corrigendum to "Genetic epidemiology of motor neuron disease-associated variants in the Scottish population." [Neurobiol. Aging 51 (2017) 178.e11-178.e20].

Black HA, Leighton DJ, Cleary EM, Rose E, Stephenson L, Colville S, Ross D, Warner J, Porteous M, Gorrie GH, Swingler R, Goldstein D, Harms MB, Connick P, Pal S, Aitman TJ, Chandran S.

Neurobiol Aging. 2017 Aug;56:214. doi: 10.1016/j.neurobiolaging.2017.04.019. No abstract available.

33.

Genetic testing and reproductive choice in neurological disorders.

Lee O, Porteous M.

Pract Neurol. 2017 Aug;17(4):275-281. doi: 10.1136/practneurol-2017-001619. Epub 2017 May 16. Review.

PMID:
28512206
34.

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.

Lecarpentier J, Silvestri V, Kuchenbaecker KB, Barrowdale D, Dennis J, McGuffog L, Soucy P, Leslie G, Rizzolo P, Navazio AS, Valentini V, Zelli V, Lee A, Amin Al Olama A, Tyrer JP, Southey M, John EM, Conner TA, Goldgar DE, Buys SS, Janavicius R, Steele L, Ding YC, Neuhausen SL, Hansen TVO, Osorio A, Weitzel JN, Toss A, Medici V, Cortesi L, Zanna I, Palli D, Radice P, Manoukian S, Peissel B, Azzollini J, Viel A, Cini G, Damante G, Tommasi S, Peterlongo P, Fostira F, Hamann U, Evans DG, Henderson A, Brewer C, Eccles D, Cook J, Ong KR, Walker L, Side LE, Porteous ME, Davidson R, Hodgson S, Frost D, Adlard J, Izatt L, Eeles R, Ellis S, Tischkowitz M; EMBRACE, Godwin AK, Meindl A, Gehrig A, Dworniczak B, Sutter C, Engel C, Niederacher D, Steinemann D, Hahnen E, Hauke J, Rhiem K, Kast K, Arnold N, Ditsch N, Wang-Gohrke S, Wappenschmidt B, Wand D, Lasset C, Stoppa-Lyonnet D, Belotti M, Damiola F, Barjhoux L, Mazoyer S; GEMO Study Collaborators, Van Heetvelde M, Poppe B, De Leeneer K, Claes KBM, de la Hoya M, Garcia-Barberan V, Caldes T, Perez Segura P, Kiiski JI, Aittomäki K, Khan S, Nevanlinna H, van Asperen CJ; HEBON, Vaszko T, Kasler M, Olah E, Balmaña J, Gutiérrez-Enríquez S, Diez O, Teulé A, Izquierdo A, Darder E, Brunet J, Del Valle J, Feliubadalo L, Pujana MA, Lazaro C, Arason A, Agnarsson BA, Johannsson OT, Barkardottir RB, Alducci E, Tognazzo S, Montagna M, Teixeira MR, Pinto P, Spurdle AB, Holland H; KConFab Investigators, Lee JW, Lee MH, Lee J, Kim SW, Kang E, Kim Z, Sharma P, Rebbeck TR, Vijai J, Robson M, Lincoln A, Musinsky J, Gaddam P, Tan YY, Berger A, Singer CF, Loud JT, Greene MH, Mulligan AM, Glendon G, Andrulis IL, Toland AE, Senter L, Bojesen A, Nielsen HR, Skytte AB, Sunde L, Jensen UB, Pedersen IS, Krogh L, Kruse TA, Caligo MA, Yoon SY, Teo SH, von Wachenfeldt A, Huo D, Nielsen SM, Olopade OI, Nathanson KL, Domchek SM, Lorenchick C, Jankowitz RC, Campbell I, James P, Mitchell G, Orr N, Park SK, Thomassen M, Offit K, Couch FJ, Simard J, Easton DF, Chenevix-Trench G, Schmutzler RK, Antoniou AC, Ottini L.

J Clin Oncol. 2017 Jul 10;35(20):2240-2250. doi: 10.1200/JCO.2016.69.4935. Epub 2017 Apr 27.

35.

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

Phelan CM, Kuchenbaecker KB, Tyrer JP, Kar SP, Lawrenson K, Winham SJ, Dennis J, Pirie A, Riggan MJ, Chornokur G, Earp MA, Lyra PC Jr, Lee JM, Coetzee S, Beesley J, McGuffog L, Soucy P, Dicks E, Lee A, Barrowdale D, Lecarpentier J, Leslie G, Aalfs CM, Aben KKH, Adams M, Adlard J, Andrulis IL, Anton-Culver H, Antonenkova N; AOCS study group, Aravantinos G, Arnold N, Arun BK, Arver B, Azzollini J, Balmaña J, Banerjee SN, Barjhoux L, Barkardottir RB, Bean Y, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Birrer MJ, Bjorge L, Black A, Blankstein K, Blok MJ, Bodelon C, Bogdanova N, Bojesen A, Bonanni B, Borg Å, Bradbury AR, Brenton JD, Brewer C, Brinton L, Broberg P, Brooks-Wilson A, Bruinsma F, Brunet J, Buecher B, Butzow R, Buys SS, Caldes T, Caligo MA, Campbell I, Cannioto R, Carney ME, Cescon T, Chan SB, Chang-Claude J, Chanock S, Chen XQ, Chiew YE, Chiquette J, Chung WK, Claes KBM, Conner T, Cook LS, Cook J, Cramer DW, Cunningham JM, D'Aloisio AA, Daly MB, Damiola F, Damirovna SD, Dansonka-Mieszkowska A, Dao F, Davidson R, DeFazio A, Delnatte C, Doheny KF, Diez O, Ding YC, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Dossus L, Duran M, Dürst M, Dworniczak B, Eccles D, Edwards T, Eeles R, Eilber U, Ejlertsen B, Ekici AB, Ellis S, Elvira M; EMBRACE Study, Eng KH, Engel C, Evans DG, Fasching PA, Ferguson S, Ferrer SF, Flanagan JM, Fogarty ZC, Fortner RT, Fostira F, Foulkes WD, Fountzilas G, Fridley BL, Friebel TM, Friedman E, Frost D, Ganz PA, Garber J, García MJ, Garcia-Barberan V, Gehrig A; GEMO Study Collaborators, Gentry-Maharaj A, Gerdes AM, Giles GG, Glasspool R, Glendon G, Godwin AK, Goldgar DE, Goranova T, Gore M, Greene MH, Gronwald J, Gruber S, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO, Harrington PA, Harris HR, Hauke J; HEBON Study, Hein A, Henderson A, Hildebrandt MAT, Hillemanns P, Hodgson S, Høgdall CK, Høgdall E, Hogervorst FBL, Holland H, Hooning MJ, Hosking K, Huang RY, Hulick PJ, Hung J, Hunter DJ, Huntsman DG, Huzarski T, Imyanitov EN, Isaacs C, Iversen ES, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, Jernetz M, Jensen A, Jensen UB, John EM, Johnatty S, Jones ME, Kannisto P, Karlan BY, Karnezis A, Kast K; KConFab Investigators, Kennedy CJ, Khusnutdinova E, Kiemeney LA, Kiiski JI, Kim SW, Kjaer SK, Köbel M, Kopperud RK, Kruse TA, Kupryjanczyk J, Kwong A, Laitman Y, Lambrechts D, Larrañaga N, Larson MC, Lazaro C, Le ND, Le Marchand L, Lee JW, Lele SB, Leminen A, Leroux D, Lester J, Lesueur F, Levine DA, Liang D, Liebrich C, Lilyquist J, Lipworth L, Lissowska J, Lu KH, Lubinński J, Luccarini C, Lundvall L, Mai PL, Mendoza-Fandiño G, Manoukian S, Massuger LFAG, May T, Mazoyer S, McAlpine JN, McGuire V, McLaughlin JR, McNeish I, Meijers-Heijboer H, Meindl A, Menon U, Mensenkamp AR, Merritt MA, Milne RL, Mitchell G, Modugno F, Moes-Sosnowska J, Moffitt M, Montagna M, Moysich KB, Mulligan AM, Musinsky J, Nathanson KL, Nedergaard L, Ness RB, Neuhausen SL, Nevanlinna H, Niederacher D, Nussbaum RL, Odunsi K, Olah E, Olopade OI, Olsson H, Olswold C, O'Malley DM, Ong KR, Onland-Moret NC; OPAL study group, Orr N, Orsulic S, Osorio A, Palli D, Papi L, Park-Simon TW, Paul J, Pearce CL, Pedersen IS, Peeters PHM, Peissel B, Peixoto A, Pejovic T, Pelttari LM, Permuth JB, Peterlongo P, Pezzani L, Pfeiler G, Phillips KA, Piedmonte M, Pike MC, Piskorz AM, Poblete SR, Pocza T, Poole EM, Poppe B, Porteous ME, Prieur F, Prokofyeva D, Pugh E, Pujana MA, Pujol P, Radice P, Rantala J, Rappaport-Fuerhauser C, Rennert G, Rhiem K, Rice P, Richardson A, Robson M, Rodriguez GC, Rodríguez-Antona C, Romm J, Rookus MA, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Salvesen HB, Sandler DP, Schoemaker MJ, Senter L, Setiawan VW, Severi G, Sharma P, Shelford T, Siddiqui N, Side LE, Sieh W, Singer CF, Sobol H, Song H, Southey MC, Spurdle AB, Stadler Z, Steinemann D, Stoppa-Lyonnet D, Sucheston-Campbell LE, Sukiennicki G, Sutphen R, Sutter C, Swerdlow AJ, Szabo CI, Szafron L, Tan YY, Taylor JA, Tea MK, Teixeira MR, Teo SH, Terry KL, Thompson PJ, Thomsen LCV, Thull DL, Tihomirova L, Tinker AV, Tischkowitz M, Tognazzo S, Toland AE, Tone A, Trabert B, Travis RC, Trichopoulou A, Tung N, Tworoger SS, van Altena AM, Van Den Berg D, van der Hout AH, van der Luijt RB, Van Heetvelde M, Van Nieuwenhuysen E, van Rensburg EJ, Vanderstichele A, Varon-Mateeva R, Vega A, Edwards DV, Vergote I, Vierkant RA, Vijai J, Vratimos A, Walker L, Walsh C, Wand D, Wang-Gohrke S, Wappenschmidt B, Webb PM, Weinberg CR, Weitzel JN, Wentzensen N, Whittemore AS, Wijnen JT, Wilkens LR, Wolk A, Woo M, Wu X, Wu AH, Yang H, Yannoukakos D, Ziogas A, Zorn KK, Narod SA, Easton DF, Amos CI, Schildkraut JM, Ramus SJ, Ottini L, Goodman MT, Park SK, Kelemen LE, Risch HA, Thomassen M, Offit K, Simard J, Schmutzler RK, Hazelett D, Monteiro AN, Couch FJ, Berchuck A, Chenevix-Trench G, Goode EL, Sellers TA, Gayther SA, Antoniou AC, Pharoah PDP.

Nat Genet. 2017 May;49(5):680-691. doi: 10.1038/ng.3826. Epub 2017 Mar 27.

36.

Peripheral Blood Gene Expression Changes Associated With Primary Graft Dysfunction After Lung Transplantation.

Diamond JM, Cantu E, Porteous MK, Suzuki Y, Meyer KC, Lederer DJ, Milewski RK, Arcasoy S, D'Ovidio F, Bacchetta M, Sonett JR, Singh G, Costa J, Tobias JW, Rodriguez H, Van Deerlin VM, Olthoff KM, Shaked A, Chang BL, Christie JD; Clinical Trials in Organ Transplantation (CTOT)-03 Investigators.

Am J Transplant. 2017 Jul;17(7):1770-1777. doi: 10.1111/ajt.14209. Epub 2017 Feb 17.

37.

Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.

Black HA, Leighton DJ, Cleary EM, Rose E, Stephenson L, Colville S, Ross D, Warner J, Porteous M, Gorrie GH, Swingler R, Goldstein D, Harms MB, Connick P, Pal S, Aitman TJ, Chandran S.

Neurobiol Aging. 2017 Mar;51:178.e11-178.e20. doi: 10.1016/j.neurobiolaging.2016.12.013. Epub 2016 Dec 21. Erratum in: Neurobiol Aging. 2017 Aug;56:214.

38.

Chest Fat Quantification via CT Based on Standardized Anatomy Space in Adult Lung Transplant Candidates.

Tong Y, Udupa JK, Torigian DA, Odhner D, Wu C, Pednekar G, Palmer S, Rozenshtein A, Shirk MA, Newell JD, Porteous M, Diamond JM, Christie JD, Lederer DJ.

PLoS One. 2017 Jan 3;12(1):e0168932. doi: 10.1371/journal.pone.0168932. eCollection 2017.

39.

Principles of managing Vancouver type B periprosthetic fractures around cemented polished tapered femoral stems.

Quah C, Porteous M, Stephen A.

Eur J Orthop Surg Traumatol. 2017 May;27(4):477-482. doi: 10.1007/s00590-016-1883-7. Epub 2016 Nov 26. Review.

PMID:
27889849
40.

A qualitative study of patients' perceptions of the value of molecular diagnosis for familial hypercholesterolemia (FH).

Hallowell N, Jenkins N, Douglas M, Walker S, Finnie R, Porteous M, Lawton J.

J Community Genet. 2017 Jan;8(1):45-52. doi: 10.1007/s12687-016-0286-0. Epub 2016 Nov 19.

41.

Interstitial Lung Disease in the Elderly.

Patterson KC, Shah RJ, Porteous MK, Christie JD, D'Errico CA, Chadwick M, Triano MJ, Deshpande C, Rossman MD, Litzky LA, Kreider M, Miller WT Jr.

Chest. 2017 Apr;151(4):838-844. doi: 10.1016/j.chest.2016.11.003. Epub 2016 Nov 16.

PMID:
27865876
42.

When deep vein thrombosis occurs in the upper limb.

Porteous M, Thachil J.

Br J Hosp Med (Lond). 2016 Aug 2;77(8):448-53. doi: 10.12968/hmed.2016.77.8.448. Review.

PMID:
27487054
43.

Total hip replacement for hip fracture: Surgical techniques and concepts.

Coomber R, Porteous M, Hubble MJW, Parker MJ.

Injury. 2016 Oct;47(10):2060-2064. doi: 10.1016/j.injury.2016.06.034. Epub 2016 Jul 16. Review.

PMID:
27451289
44.

The manufacture of generic replicas of implants for arthroplasty of the hip and knee: is it regulated and will it save money?

Atrey A, Heylen S, Gosling O, Porteous MJ, Haddad FS.

Bone Joint J. 2016 Jul;98-B(7):892-900. doi: 10.1302/0301-620X.98B7.37016.

PMID:
27365466
45.

Improved PCR based methods for detecting C9orf72 hexanucleotide repeat expansions.

Cleary EM, Pal S, Azam T, Moore DJ, Swingler R, Gorrie G, Stephenson L, Colville S, Chandran S, Porteous M, Warner JP.

Mol Cell Probes. 2016 Aug;30(4):218-224. doi: 10.1016/j.mcp.2016.06.001. Epub 2016 Jun 7.

46.

De novo mutations in autosomal recessive congenital malformations.

Black HA, Parry D, Atanur SS, Ross D, Rose E, Russell H, Stock S, Warner J, Porteous M, Aitman TJ, Evans MJ.

Genet Med. 2016 Dec;18(12):1325-1326. doi: 10.1038/gim.2016.62. Epub 2016 Jun 9. No abstract available.

PMID:
27280866
47.

Determinants of 6-minute walk distance in patients with idiopathic pulmonary fibrosis undergoing lung transplant evaluation.

Porteous MK, Rivera-Lebron BN, Kreider M, Lee J, Kawut SM.

Pulm Circ. 2016 Mar;6(1):30-6. doi: 10.1086/685022.

48.

Assessing clarity and erasability of commercially available pens for surgical site marking: a comparative study in human volunteers.

Sim FC, Angadi D, Jarvis GE, Porteous M.

Patient Saf Surg. 2016 Mar 18;10:11. doi: 10.1186/s13037-016-0097-6. eCollection 2016.

49.

The relationship between plasma lipid peroxidation products and primary graft dysfunction after lung transplantation is modified by donor smoking and reperfusion hyperoxia.

Diamond JM, Porteous MK, Roberts LJ 2nd, Wickersham N, Rushefski M, Kawut SM, Shah RJ, Cantu E 3rd, Lederer DJ, Chatterjee S, Lama VN, Bhorade S, Crespo M, McDyer J, Wille K, Orens J, Weinacker A, Arcasoy S, Shah PD, Wilkes DS, Hage C, Palmer SM, Snyder L, Calfee CS, Ware LB, Christie JD; Lung Transplant Outcomes Group.

J Heart Lung Transplant. 2016 Apr;35(4):500-507. doi: 10.1016/j.healun.2015.12.012. Epub 2016 Jan 7.

50.

Diastolic Dysfunction Increases the Risk of Primary Graft Dysfunction after Lung Transplant.

Porteous MK, Ky B, Kirkpatrick JN, Shinohara R, Diamond JM, Shah RJ, Lee JC, Christie JD, Kawut SM.

Am J Respir Crit Care Med. 2016 Jun 15;193(12):1392-400. doi: 10.1164/rccm.201508-1522OC.

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