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1.

Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2.

Evans, D Gareth; Burghel, George J; Howell, Sacha J; Pugh, Sarah; Forde, Claire; Howell, Anthony; Lalloo, Fiona; Woodward, Emma Roisin.

J Med Genet ; 2024 Apr 12.

Artículo en Inglés | MEDLINE | ID: mdl-38609177

2.

Germline testing of BRCA1, BRCA2, PALB2 and CHEK2 c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of ATM, RAD51C and RAD51D in over 400.

Woodward, Emma R; Lalloo, Fiona; Forde, Claire; Pugh, Sarah; Burghel, George J; Schlecht, Helene; Harkness, Elaine F; Howell, Anthony; Howell, Sacha J; Gandhi, Ashu; Evans, D Gareth.

J Med Genet ; 61(4): 385-391, 2024 Mar 21.

Artículo en Inglés | MEDLINE | ID: mdl-38123987

3.

Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer.

Evans, D Gareth; Burghel, George J; Schlecht, Helene; Harkness, Elaine F; Gandhi, Ashu; Howell, Sacha J; Howell, Anthony; Forde, Claire; Lalloo, Fiona; Newman, William G; Smith, Miriam Jane; Woodward, Emma Roisin.

J Med Genet ; 60(10): 974-979, 2023 10.

Artículo en Inglés | MEDLINE | ID: mdl-37055167

4.

Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers.

Evans, D Gareth; Sithambaram, Siva; van Veen, Elke Maria; Burghel, George J; Schlecht, Helene; Harkness, Elaine F; Byers, Helen; Ellingford, Jamie M; Gandhi, Ashu; Howell, Sacha J; Howell, Anthony; Forde, Claire; Lalloo, Fiona; Newman, William G; Smith, Miriam Jane; Woodward, Emma Roisin.

J Med Genet ; 60(8): 740-746, 2023 08.

Artículo en Inglés | MEDLINE | ID: mdl-36442995

5.

Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service.

Maher, Eamonn R; Adlard, Julian; Barwell, Julian; Brady, Angela F; Brennan, Paul; Cook, Jackie; Crawford, Gillian S; Dabir, Tabib; Davidson, Rosemarie; Dyer, Rebecca; Harrison, Rachel; Forde, Claire; Halliday, Dorothy; Hanson, Helen; Hay, Eleanor; Higgs, Jenny; Jones, Mari; Lalloo, Fiona; Miedzybrodzka, Zosia; Ong, Kai Ren; Pelz, Frauke; Ruddy, Deborah; Snape, Katie; Whitworth, James; Sandford, Richard N.

Br J Cancer ; 126(9): 1339-1345, 2022 05.

Artículo en Inglés | MEDLINE | ID: mdl-35184155

6.

An evaluation of plasma vitamin C concentrations in individuals requiring home parenteral nutrition.

Barrett, Maria Patricia; Farrer, Kirstine; Forde, Claire; Deutsch, Liat; Lal, Simon.

J Hum Nutr Diet ; 35(5): 895-900, 2022 10.

Artículo en Inglés | MEDLINE | ID: mdl-35147258

7.

Survival from breast cancer in women with a BRCA2 mutation by treatment.

Evans, D Gareth; Phillips, Kelly-Anne; Milne, Roger L; Fruscio, Robert; Cybulski, Cezary; Gronwald, Jacek; Lubinski, Jan; Huzarski, Tomasz; Hyder, Zerin; Forde, Claire; Metcalfe, Kelly; Senter, Leigha; Weitzel, Jeffrey; Tung, Nadine; Zakalik, Dana; Ekholm, Maria; Sun, Ping; Narod, Steven A.

Br J Cancer ; 124(9): 1524-1532, 2021 04.

Artículo en Inglés | MEDLINE | ID: mdl-33597716

8.

Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.

Woodward, Emma R; van Veen, Elke M; Forde, Claire; Harkness, Elaine F; Byers, Helen J; Ellingford, Jamie M; Burghel, George J; Schlech, Helene; Bowers, Naomi L; Wallace, Andrew J; Howell, Sacha J; Howell, Anthony; Lalloo, Fiona; Newman, William G; Smith, Miriam J; Gareth Evans, D.

Genet Med ; 23(10): 1969-1976, 2021 10.

Artículo en Inglés | MEDLINE | ID: mdl-34113003

9.

Uptake of pre-symptomatic testing for BRCA1 and BRCA2 is age, gender, offspring and time-dependent.

Forde, Claire; Brunstrom, Kate; Woodward, Emma; Bowers, Naomi; Pereira, Marta; Wallace, Andrew J; Lalloo, Fiona; Harkness, Elaine F; Evans, D Gareth.

J Med Genet ; 2020 Apr 30.

Artículo en Inglés | MEDLINE | ID: mdl-32354797

10.

Correction to: Survival from breast cancer in women with a BRCA2 mutation by treatment.

Evans, D Gareth; Phillips, Kelly-Anne; Milne, Roger L; Fruscio, Robert; Cybulski, Cezary; Gronwald, Jacek; Lubinski, Jan; Huzarski, Tomasz; Hyder, Zerin; Forde, Claire; Metcalfe, Kelly; Senter, Leigha; Weitzel, Jeffrey; Tung, Nadine; Zakalik, Dana; Ekholm, Maria; Sun, Ping; Narod, Steven A.

Br J Cancer ; 128(4): 703, 2023 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-36639528

11.

Virtual consultations: Providing alternative ways of supporting patients with inherited bleeding disorders.

Sayers, Fionnuala; Manson, Helen; Brennan, Bernadette; Brown, Alastair; Chmielowiec, Karolina; Dodds-Patterson, Jacqueline; Forde, Claire; Kearney, Annmarie; Lynn, Christine; Matthews, Carolyn; Neill, Charlene; McGrath, Patricia; McKee, Katy; McKeown, Raymond; McMurray, Kirsty; Radcliffe, Karen; Sands, Andrea; Waddell, David; Benson, Gary.

Haemophilia ; 27(4): e498-e501, 2021 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-33245838

12.

The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single-institution experience.

Molina-Ramírez, Leslie P; Burkitt-Wright, Emma Mm; Saeed, Haroon; McDermott, John H; Kyle, Claire; Wright, Ronnie; Campbell, Christopher; Bhaskar, Sanjeev S; Taylor, Algy; Dutton, Laura; Forde, Claire; Metcalfe, Kay; Smith, Audrey; Clayton-Smith, Jill; Douzgou, Sofia; Chandler, Kate; Briggs, Tracy A; Banka, Siddharth; Newman, William G; Gokhale, David; Bruce, Iain A; Black, Graeme C.

Clin Otolaryngol ; 46(6): 1257-1262, 2021 11.

Artículo en Inglés | MEDLINE | ID: mdl-34171171

13.

Cascade screening in HBOC and Lynch syndrome: guidelines and procedures in a UK centre.

Evans, D Gareth; Green, Kate; Burghel, George J; Forde, Claire; Lalloo, Fiona; Schlecht, Helene; Woodward, Emma R.

Fam Cancer ; 2024 Mar 13.

Artículo en Inglés | MEDLINE | ID: mdl-38478259

14.

Oxygen utilisation in patients on prolonged parenteral nutrition; a case-controlled study.

Ahmed, Babur; Shaw, Simon; Pratt, Oliver; Forde, Claire; Lal, Simon; Carlson Cbe, Gordon.

Clin Nutr ESPEN ; 56: 152-157, 2023 08.

Artículo en Inglés | MEDLINE | ID: mdl-37344066

15.

Radiation treatment of benign tumors in NF2-related-schwannomatosis: A national study of 266 irradiated patients showing a significant increase in malignancy/malignant progression.

Evans, D Gareth; Halliday, Dorothy; Obholzer, Rupert; Afridi, Shazia; Forde, Claire; Rutherford, Scott A; Hammerbeck-Ward, Charlotte; Lloyd, Simon K; Freeman, Simon M; Pathmanaban, Omar N; Thomas, Owen M; Laitt, Roger D; Stivaros, Stavros; Kilday, John-Paul; Vassallo, Grace; McBain, Catherine; Lavin, Timothy; Paterson, Chay; Whitfield, Gillian; McCabe, Martin G; Axon, Patrick R; Halliday, Jane; Mackeith, Samuel; Parry, Allyson; Harkness, Elaine F; Buttimore, Juliette; King, Andrew T.

Neurooncol Adv ; 5(1): vdad025, 2023.

Artículo en Inglés | MEDLINE | ID: mdl-37051330

16.

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.

Forde, Claire; Burkitt-Wright, Emma; Turnpenny, Peter D; Haan, Eric; Ealing, John; Mansour, Sahar; Holder, Muriel; Lahiri, Nayana; Dixit, Abhijit; Procter, Annie; Pacot, Laurence; Vidaud, Dominique; Capri, Yline; Gerard, Marion; Dollfus, Hélène; Schaefer, Elise; Quelin, Chloé; Sigaudy, Sabine; Busa, Tiffany; Vera, Gabriella; Damaj, Lena; Messiaen, Ludwine; Stevenson, David A; Davies, Peter; Palmer-Smith, Sheila; Callaway, Alison; Wolkenstein, Pierre; Pasmant, Eric; Upadhyaya, Meena.

Eur J Hum Genet ; 30(3): 291-297, 2022 03.

Artículo en Inglés | MEDLINE | ID: mdl-34897289

17.

Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a single institution.

Forde, Claire; King, Andrew T; Rutherford, Scott A; Hammerbeck-Ward, Charlotte; Lloyd, Simon K; Freeman, Simon R; Pathmanaban, Omar N; Stapleton, Emma; Thomas, Owen M; Laitt, Roger D; Stivaros, Stavros; Kilday, John-Paul; Vassallo, Grace; McBain, Catherine; Kerrigan, Simon; Smith, Miriam J; McCabe, Martin G; Harkness, Elaine F; Evans, D Gareth.

Neuro Oncol ; 23(7): 1113-1124, 2021 07 01.

Artículo en Inglés | MEDLINE | ID: mdl-33336705

18.

Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals.

Forde, Claire; Lim, Derek H K; Alwan, Yousef; Burghel, George; Butland, Laura; Cleaver, Ruth; Dixit, Abhijit; Evans, D Gareth; Hanson, Helen; Lalloo, Fiona; Oliveira, Pedro; Vialard, Lindsey; Wallis, Yvonne; Maher, Eamonn R; Woodward, Emma R.

Eur Urol Oncol ; 3(6): 764-772, 2020 12.

Artículo en Inglés | MEDLINE | ID: mdl-31831373

19.

Efficiency: Prescription for challenging times.

Forde, Claire.

Health Serv J ; 122(6291): 30-1, 2012 Jan 26.

Artículo en Inglés | MEDLINE | ID: mdl-22468432

20.

Quantification of HER2 heterogeneity in breast cancer-implications for identification of sub-dominant clones for personalised treatment.

Buckley, Niamh E; Forde, Claire; McArt, Darragh G; Boyle, David P; Mullan, Paul B; James, Jacqueline A; Maxwell, Perry; McQuaid, Stephen; Salto-Tellez, Manuel.

Sci Rep ; 6: 23383, 2016 Mar 21.

Artículo en Inglés | MEDLINE | ID: mdl-26996207

BVS CLAP/SMR-OPS/OMS

Centro Latinoamericano de Perinatología, Salud de la Mujer y Reproductiva

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