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Items: 1 to 20 of 25

1.

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 Mar 22. doi: 10.1038/gim.2018.44. [Epub ahead of print]

PMID:
29565421
2.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, Horton R, Kerr B, Kumar D, Lehman A, McKee S, Morton J, Parker MJ, Rankin J, Robertson L, Temple IK; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study; Deciphering Developmental Disorders (DDD) Study, Banka S.

Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21.

PMID:
29276005
3.

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.

Sadleir LG, Mountier EI, Gill D, Davis S, Joshi C, DeVile C, Kurian MA; DDD Study, Mandelstam S, Wirrell E, Nickels KC, Murali HR, Carvill G, Myers CT, Mefford HC, Scheffer IE.

Neurology. 2017 Sep 5;89(10):1035-1042. doi: 10.1212/WNL.0000000000004331. Epub 2017 Aug 9.

4.

Prevalence and architecture of de novo mutations in developmental disorders.

Deciphering Developmental Disorders Study.

Nature. 2017 Feb 23;542(7642):433-438. doi: 10.1038/nature21062. Epub 2017 Jan 25.

PMID:
28135719
5.

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration, Rahman N.

Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13.

6.

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium, Rahman N.

Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8.

7.

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen L, van der Wielen MJ, Vollebregt MJ; Coffin-Siris consortium, Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB, Hennekam RC, van Belzen MJ.

Hum Mutat. 2013 Nov;34(11):1519-28. doi: 10.1002/humu.22394. Epub 2013 Aug 30.

PMID:
23929686
8.

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.

Ruark E, Snape K, Humburg P, Loveday C, Bajrami I, Brough R, Rodrigues DN, Renwick A, Seal S, Ramsay E, Duarte Sdel V, Rivas MA, Warren-Perry M, Zachariou A, Campion-Flora A, Hanks S, Murray A, Ansari Pour N, Douglas J, Gregory L, Rimmer A, Walker NM, Yang TP, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Eccles D, Evans DG, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Gore M, Houlston R, Brown MA, Caufield MJ, Deloukas P, McCarthy MI, Todd JA; Breast and Ovarian Cancer Susceptibility Collaboration; Wellcome Trust Case Control Consortium, Turnbull C, Reis-Filho JS, Ashworth A, Antoniou AC, Lord CJ, Donnelly P, Rahman N.

Nature. 2013 Jan 17;493(7432):406-10. doi: 10.1038/nature11725. Epub 2012 Dec 16.

9.

BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years.

Robertson L, Hanson H, Seal S, Warren-Perry M, Hughes D, Howell I, Turnbull C, Houlston R, Shanley S, Butler S, Evans DG, Ross G, Eccles D, Tutt A, Rahman N; TNT Trial TMG; BCSC (UK).

Br J Cancer. 2012 Mar 13;106(6):1234-8. doi: 10.1038/bjc.2012.31. Epub 2012 Feb 14.

10.

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Tatton-Brown K, Hanks S, Ruark E, Zachariou A, Duarte Sdel V, Ramsay E, Snape K, Murray A, Perdeaux ER, Seal S, Loveday C, Banka S, Clericuzio C, Flinter F, Magee A, McConnell V, Patton M, Raith W, Rankin J, Splitt M, Strenger V, Taylor C, Wheeler P, Temple KI, Cole T; Childhood Overgrowth Collaboration, Douglas J, Rahman N.

Oncotarget. 2011 Dec;2(12):1127-33.

11.

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).

Logan CV, Lucke B, Pottinger C, Abdelhamed ZA, Parry DA, Szymanska K, Diggle CP, van Riesen A, Morgan JE, Markham G, Ellis I, Manzur AY, Markham AF, Shires M, Helliwell T, Scoto M, Hübner C, Bonthron DT, Taylor GR, Sheridan E, Muntoni F, Carr IM, Schuelke M, Johnson CA.

Nat Genet. 2011 Nov 20;43(12):1189-92. doi: 10.1038/ng.995.

PMID:
22101682
12.

Gene-gene interactions in breast cancer susceptibility.

Turnbull C, Seal S, Renwick A, Warren-Perry M, Hughes D, Elliott A, Pernet D, Peock S, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L; Breast Cancer Susceptibility Collaboration (UK), EMBRACE, Ahmed M, Eccles D, Evans DG, Donnelly P, Easton DF, Stratton MR, Rahman N.

Hum Mol Genet. 2012 Feb 15;21(4):958-62. doi: 10.1093/hmg/ddr525. Epub 2011 Nov 9.

13.

Germline mutations in RAD51D confer susceptibility to ovarian cancer.

Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, Bowden G, Kalmyrzaev B, Warren-Perry M, Snape K, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L; Breast Cancer Susceptibility Collaboration (UK), Eccles D, Evans DG, Renwick A, Seal S, Lord CJ, Ashworth A, Reis-Filho JS, Antoniou AC, Rahman N.

Nat Genet. 2011 Aug 7;43(9):879-882. doi: 10.1038/ng.893.

14.

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafé L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovée JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, Zhu M, Kozakewich HP, Kasser JR, Seidman JG, Kurek KC, Warman ML.

PLoS Genet. 2011 Apr;7(4):e1002050. doi: 10.1371/journal.pgen.1002050. Epub 2011 Apr 14.

15.

Mutation and association analysis of GEN1 in breast cancer susceptibility.

Turnbull C, Hines S, Renwick A, Hughes D, Pernet D, Elliott A, Seal S, Warren-Perry M, Gareth Evans D, Eccles D; Breast Cancer Susceptibility Collaboration UK, Stratton MR, Rahman N.

Breast Cancer Res Treat. 2010 Nov;124(1):283-8. doi: 10.1007/s10549-010-0949-1. Epub 2010 May 30.

16.

Further evidence of dominant inheritance of Kabuki syndrome.

Pottinger CC, Stiff RE, Holroyd JM, Davies SJ.

Clin Dysmorphol. 2009 Oct;18(4):215-7. doi: 10.1097/MCD.0b013e32832c012e. No abstract available.

PMID:
19625956
17.

Septo-optic dysplasia, limb anomalies and cutis aplasia: further evidence for overlap between Pagon and Adams-Oliver syndromes.

Pottinger CC, Joshi H, Rowe SA, Fryer AE.

Clin Dysmorphol. 2009 Oct;18(4):228-31. doi: 10.1097/MCD.0b013e32832dc33a. No abstract available.

PMID:
19623038
18.

Electrochemotherapy for the treatment of human sarcoma in athymic rats.

Jaroszeski MJ, Coppola D, Pottinger C, Gilbert RA, Heller R.

Technol Cancer Res Treat. 2002 Oct;1(5):393-9.

PMID:
12625765
19.

Effect of electrochemotherapy on muscle and skin.

Heller R, Coppola D, Pottinger C, Gilbert R, Jaroszeski MJ.

Technol Cancer Res Treat. 2002 Oct;1(5):385-92.

PMID:
12625764
20.

Treatment of hepatocellular carcinoma in a rat model using electrochemotherapy.

Jaroszeski MJ, Coppola D, Pottinger C, Benson K, Gilbert RA, Heller R.

Eur J Cancer. 2001 Feb;37(3):422-30.

PMID:
11239766

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