Works matching AU Evans, D. Gareth


Results: 281
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    Screening of potential novel candidate genes in schwannomatosis patients.

    Published in:
    Human Mutation, 2022, v. 43, n. 10, p. 1368, doi. 10.1002/humu.24424
    By:
    • Perez‐Becerril, Cristina;
    • Wallace, Andrew J.;
    • Schlecht, Helene;
    • Bowers, Naomi L.;
    • Smith, Philip T.;
    • Gokhale, Carolyn;
    • Eaton, Helen;
    • Charlton, Chris;
    • Robinson, Rachel;
    • Charlton, Ruth S.;
    • Evans, D. Gareth;
    • Smith, Miriam J.
    Publication type:
    Article
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    Re‐evaluation of missense variant classifications in NF2.

    Published in:
    Human Mutation, 2022, v. 43, n. 5, p. 643, doi. 10.1002/humu.24370
    By:
    • Sadler, Katherine V.;
    • Rowlands, Charlie F.;
    • Smith, Philip T.;
    • Hartley, Claire L.;
    • Bowers, Naomi L.;
    • Roberts, Nicola Y.;
    • Harris, Jade L.;
    • Wallace, Andrew J.;
    • Evans, D. Gareth;
    • Messiaen, Ludwine M.;
    • Smith, Miriam J.
    Publication type:
    Article
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    Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.

    Published in:
    Human Mutation, 2021, v. 42, n. 3, p. 223, doi. 10.1002/humu.24152
    By:
    • Fortuno, Cristina;
    • Lee, Kristy;
    • Olivier, Magali;
    • Pesaran, Tina;
    • Mai, Phuong L.;
    • Andrade, Kelvin C.;
    • Attardi, Laura D.;
    • Crowley, Stephanie;
    • Evans, D. Gareth;
    • Feng, Bing‐Jian;
    • Foreman, Ann K. M.;
    • Frone, Megan N.;
    • Huether, Robert;
    • James, Paul A.;
    • McGoldrick, Kelly;
    • Mester, Jessica;
    • Seifert, Bryce A.;
    • Slavin, Thomas P.;
    • Witkowski, Leora;
    • Zhang, Liying
    Publication type:
    Article
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    Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.

    Published in:
    Human Mutation, 2020, v. 41, n. 9, p. 1555, doi. 10.1002/humu.24060
    By:
    • Fortuno, Cristina;
    • Mester, Jessica;
    • Pesaran, Tina;
    • Weitzel, Jeffrey N.;
    • Dolinsky, Jill;
    • Yussuf, Amal;
    • McGoldrick, Kelly;
    • Garber, Judy E.;
    • Savage, Sharon A.;
    • Khincha, Payal P.;
    • Gareth Evans, D.;
    • Achatz, Maria Isabel;
    • Nichols, Kim E.;
    • Maxwell, Kara N.;
    • Schiffman, Joshua D.;
    • Sandoval, Renata;
    • James, Paul A.;
    • Spurdle, Amanda B.
    Publication type:
    Article
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    Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

    Published in:
    Human Mutation, 2010, v. 31, n. 1, p. 41, doi. 10.1002/humu.21136
    By:
    • Ricketts, Christopher J.;
    • Forman, Julia R.;
    • Rattenberry, Eleanor;
    • Bradshaw, Nicola;
    • Lalloo, Fiona;
    • Izatt, Louise;
    • Cole, Trevor R.;
    • Armstrong, Ruth;
    • Kumar, V.K. Ajith;
    • Morrison, Patrick J.;
    • Atkinson, A. Brew;
    • Douglas, Fiona;
    • Ball, Steve G.;
    • Cook, Jackie;
    • Srirangalingam, Umasuthan;
    • Killick, Pip;
    • Kirby, Gail;
    • Aylwin, Simon;
    • Woodward, Emma R.;
    • Evans, D. Gareth R.
    Publication type:
    Article
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    Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2.

    Published in:
    Human Mutation, 2005, v. 26, n. 6, p. 540, doi. 10.1002/humu.20255
    By:
    • Buckley, Patrick G.;
    • Mantripragada, Kiran K.;
    • Díaz de Ståhl, Teresita;
    • Piotrowski, Arkadiusz;
    • Hansson, Caisa M.;
    • Kiss, Hajnalka;
    • Vetrie, David;
    • Ernberg, Ingemar T.;
    • Nordenskjöld, Magnus;
    • Bolund, Lars;
    • Sainio, Markku;
    • Rouleau, Guy A.;
    • Niimura, Michihito;
    • Wallace, Andrew J.;
    • Evans, D. Gareth R.;
    • Grigelionis, Gintautas;
    • Menzel, Uwe;
    • Dumanski, Jan P.
    Publication type:
    Article
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    Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations.

    Published in:
    JNCI Cancer Spectrum, 2018, v. 2, n. 4, p. N.PAG, doi. 10.1093/jncics/pky078
    By:
    • Terry, Mary Beth;
    • Liao, Yuyan;
    • Kast, Karin;
    • Antoniou, Antonis C;
    • McDonald, Jasmine A;
    • Mooij, Thea M;
    • Engel, Christoph;
    • Nogues, Catherine;
    • Buecher, Bruno;
    • Mari, Véronique;
    • Moretta-Serra, Jessica;
    • Gladieff, Laurence;
    • Luporsi, Elisabeth;
    • Barrowdale, Daniel;
    • Frost, Debra;
    • Henderson, Alex;
    • Brewer, Carole;
    • Evans, D Gareth;
    • Eccles, Diana;
    • Cook, Jackie
    Publication type:
    Article
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    Advances in Neurofibromatosis 2 (NF2): A Workshop Report.

    Published in:
    Journal of Neurogenetics, 2000, v. 14, n. 2, p. 63, doi. 10.3109/01677060009083477
    By:
    • Lim, David J.;
    • Rubenstein, Allan E.;
    • Evans, D. Gareth;
    • Jacks, Tyler;
    • Seizinger, Bernd G.;
    • Baser, Michael E.;
    • Beebe, David;
    • Brackmann, Derald E.;
    • Chiocca, E. Antonio;
    • Fehon, Richard G.;
    • Giovannini, Marco;
    • Glazer, Robert;
    • Gusella, James F.;
    • Gutmann, David H.;
    • Korf, Bruce;
    • Lieberman, Frank;
    • Martuza, Robert;
    • McClatchey, Andrea I.;
    • Parry, Dilys M.;
    • Pulst, Stefan M.
    Publication type:
    Article
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    Deciphering the genetics of hereditary non-syndromic colorectal cancer.

    Published in:
    European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1477, doi. 10.1038/ejhg.2008.129
    By:
    • Papaemmanuil, Eli;
    • Carvajal-Carmona, Luis;
    • Sellick, Gabrielle S.;
    • Kemp, Zoe;
    • Webb, Emily;
    • Spain, Sarah;
    • Sullivan, Kate;
    • Barclay, Ella;
    • Lubbe, Steven;
    • Jaeger, Emma;
    • Vijayakrishnan, Jayaram;
    • Broderick, Peter;
    • Gorman, Maggie;
    • Martin, Lynn;
    • Lucassen, Anneke;
    • Bishop, D. Timothy;
    • Evans, D. Gareth;
    • Maher, Eamonn R.;
    • Steinke, Verena;
    • Rahner, Nils
    Publication type:
    Article
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    BRCA1/2 predictive testing: a study of uptake in two centres.

    Published in:
    European Journal of Human Genetics, 2004, v. 12, n. 8, p. 654, doi. 10.1038/sj.ejhg.5201206
    By:
    • Lucy Brooks;
    • Fiona Lennard;
    • Andrew Shenton;
    • Fiona Lalloo;
    • Ingrid Ambus;
    • Audrey Ardern-Jones;
    • Rachel Belk;
    • Bronwyn Kerr;
    • David Craufurd;
    • Rosalind Eeles;
    • D Gareth Evans
    Publication type:
    Article
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    The microenvironment in sporadic and neurofibromatosis type II--related vestibular schwannoma: the same tumor or different? A comparative imaging and neuropathology study.

    Published in:
    Journal of Neurosurgery, 2021, v. 134, n. 5, p. 1419, doi. 10.3171/2020.3.JNS193230
    By:
    • Lewis, Daniel;
    • Donofrio, Carmine A.;
    • O'Leary, Claire;
    • Ka-loh Li;
    • Xiaoping Zhu;
    • Williams, Ricky;
    • Djoukhadar, Ibrahim;
    • Agushi, Erjon;
    • Hannan, Cathal J.;
    • Stapleton, Emma;
    • Lloyd, Simon K.;
    • Freeman, Simon R.;
    • Wadeson, Andrea;
    • Rutherford, Scott A.;
    • Hammerbeck-Ward, Charlotte;
    • Evans, D. Gareth;
    • Jackson, Alan;
    • Pathmanaban, Omar N.;
    • Roncaroli, Federico;
    • King, Andrew T.
    Publication type:
    Article
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    Germline RAD51C mutations confer susceptibility to ovarian cancer.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 475, doi. 10.1038/ng.2224
    By:
    • Loveday, Chey;
    • Turnbull, Clare;
    • Ruark, Elise;
    • Xicola, Rosa Maria Munoz;
    • Ramsay, Emma;
    • Hughes, Deborah;
    • Warren-Perry, Margaret;
    • Snape, Katie;
    • Eccles, Diana;
    • Evans, D Gareth;
    • Gore, Martin;
    • Renwick, Anthony;
    • Seal, Sheila;
    • Antoniou, Antonis C;
    • Rahman, Nazneen
    Publication type:
    Article
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    A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

    Published in:
    Nature Genetics, 2010, v. 42, n. 10, p. 885, doi. 10.1038/ng.669
    By:
    • Antoniou, Antonis C.;
    • Xianshu Wang;
    • Fredericksen, Zachary S.;
    • McGuffog, Lesley;
    • Tarre, Robert;
    • Sinilnikova, Olga M.;
    • Healey, Sue;
    • Morrison, Jonathan;
    • Kartsonaki, Christiana;
    • Lesnick, Timothy;
    • Ghoussaini, Maya;
    • Barrowdale, Daniel;
    • Brace, Em;
    • Peock, Susan;
    • Cook, Margaret;
    • Oliver, Clare;
    • Frost, Debra;
    • Eccles, Diana;
    • Evans, D. Gareth;
    • Eeles, Ros
    Publication type:
    Article
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    Genome-wide association study identifies five new breast cancer susceptibility loci.

    Published in:
    Nature Genetics, 2010, v. 42, n. 6, p. 504, doi. 10.1038/ng.586
    By:
    • Turnbull, Clare;
    • Ahmed, Shahana;
    • Morrison, Jonathan;
    • Pernet, David;
    • Renwick, Anthony;
    • Maranian, Mel;
    • Seal, Sheila;
    • Ghoussaini, Maya;
    • Hines, Sarah;
    • Healey, Catherine S.;
    • Hughes, Deborah;
    • Warren-Perry, Margaret;
    • Tapper, William;
    • Eccles, Diana;
    • Evans, D. Gareth;
    • Hooning, Maartje;
    • Schutte, Mieke;
    • van den Ouweland, Ans;
    • Houlston, Richard;
    • Ross, Gillian
    Publication type:
    Article
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    PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.

    Published in:
    Nature Genetics, 2007, v. 39, n. 2, p. 165, doi. 10.1038/ng1959
    By:
    • Rahman, Nazneen;
    • Seal, Sheila;
    • Thompson, Deborah;
    • Kelly, Patrick;
    • Renwick, Anthony;
    • Elliott, Anna;
    • Reid, Sarah;
    • Spanova, Katarina;
    • Barfoot, Rita;
    • Chagtai, Tasnim;
    • Jayatilake, Hiran;
    • McGuffog, Lesley;
    • Hanks, Sandra;
    • Evans, D. Gareth;
    • Eccles, Diana;
    • Easton, Douglas F.;
    • Stratton, Michael R.
    Publication type:
    Article
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    ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.

    Published in:
    Nature Genetics, 2006, v. 38, n. 8, p. 873, doi. 10.1038/ng1837
    By:
    • Renwick, Anthony;
    • Thompson, Deborah;
    • Seal, Sheila;
    • Kelly, Patrick;
    • Chagtai, Tasnim;
    • Ahmed, Munaza;
    • North, Bernard;
    • Jayatilake, Hiran;
    • Barfoot, Rita;
    • Spanova, Katarina;
    • McGuffog, Lesley;
    • Evans, D. Gareth;
    • Eccles, Diana;
    • Easton, Douglas F.;
    • Stratton, Michael R.;
    • Rahman, Nazneen
    Publication type:
    Article
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    Identification of the familial cylindromatosis tumour-suppressor gene.

    Published in:
    Nature Genetics, 2000, v. 25, n. 2, p. 160, doi. 10.1038/76006
    By:
    • Bignell, Graham R.;
    • Warren, William;
    • Seal, Sheila;
    • Takahashi, Meiko;
    • Rapley, Elizabeth;
    • Barfoot, Rita;
    • Green, Helen;
    • Brown, Carolanne;
    • Biggs, Patrick J.;
    • Lakhani, Sunil R.;
    • Jones, Christopher;
    • Hansen, Juliana;
    • Blair, Edward;
    • Hofmann, Benedikt;
    • Siebert, Reiner;
    • Turner, Gwen;
    • Evans, D. Gareth;
    • Schrander-Stumpel, Connie;
    • Beemer, Frits A.
    Publication type:
    Article
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    Neurofibromatosis 2011: a report of the Children's Tumor Foundation Annual Meeting.

    Published in:
    2012
    By:
    • Kalamarides, Michel;
    • Acosta, Maria;
    • Babovic-Vuksanovic, Dusica;
    • Carpen, Olli;
    • Cichowski, Karen;
    • Gareth Evans, D.;
    • Giancotti, Filippo;
    • Oliver Hanemann, C.;
    • Ingram, David;
    • Lloyd, Alison;
    • Mayes, Debra;
    • Messiaen, Ludwine;
    • Morrison, Helen;
    • North, Kathryn;
    • Packer, Roger;
    • Pan, Duojia;
    • Stemmer-Rachamimov, Anat;
    • Upadhyaya, Meena;
    • Viskochil, David;
    • Wallace, Margret
    Publication type:
    Report
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    Care after premenopausal risk‐reducing salpingo‐oophorectomy in high‐risk women: Scoping review and international consensus recommendations.

    Published in:
    BJOG: An International Journal of Obstetrics & Gynaecology, 2023, v. 130, n. 12, p. 1437, doi. 10.1111/1471-0528.17511
    By:
    • Nebgen, Denise R.;
    • Domchek, Susan M.;
    • Kotsopoulos, Joanne;
    • de Hullu, Joanne A.;
    • Crosbie, Emma J.;
    • Paramanandam, Vincent Singh;
    • Brood ‐ van Zanten, Monique M.A.;
    • Norquist, Barbara M.;
    • Guise, Theresa;
    • Rozenberg, Serge;
    • Kurian, Allison W.;
    • Pederson, Holly J.;
    • Yuksel, Nese;
    • Michaelson‐Cohen, Rachel;
    • Bober, Sharon L.;
    • da Silva Filho, Agnaldo Lopes;
    • Johansen, Nora;
    • Guidozzi, F.;
    • Evans, D. Gareth;
    • Menon, Usha
    Publication type:
    Article
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    Platform trial design for neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis: A potential model for rare diseases.

    Published in:
    Neuro-Oncology Practice, 2024, v. 11, n. 4, p. 395, doi. 10.1093/nop/npae001
    By:
    • Dhaenens, Britt A E;
    • Heimann, Günter;
    • Bakker, Annette;
    • Nievo, Marco;
    • Ferner, Rosalie E;
    • Evans, D Gareth;
    • Wolkenstein, Pierre;
    • Leubner, Jonas;
    • Potratz, Cornelia;
    • Carton, Charlotte;
    • Iloeje, Uchenna;
    • Kirk, George;
    • Blakeley, Jaishri O;
    • Plotkin, Scott;
    • Fisher, Michael J;
    • Kim, AeRang;
    • Driever, Pablo Hernáiz;
    • Azizi, Amedeo A;
    • Widemann, Brigitte C;
    • Gross, Andrea
    Publication type:
    Article
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    Lynch syndrome for the gynaecologist.

    Published in:
    Obstetrician & Gynaecologist, 2021, v. 23, n. 1, p. 9, doi. 10.1111/tog.12706
    By:
    • Ryan, Neil AJ;
    • McMahon, Raymond FT;
    • Ramchander, Neal C;
    • Seif, Mourad W;
    • Evans, D Gareth;
    • Crosbie, Emma J
    Publication type:
    Article
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    Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium.

    Published in:
    Breast Cancer Research, 2023, v. 25, n. 1, p. 1, doi. 10.1186/s13058-023-01673-w
    By:
    • Kast, Karin;
    • John, Esther M.;
    • Hopper, John L.;
    • Andrieu, Nadine;
    • Noguès, Catherine;
    • Mouret-Fourme, Emmanuelle;
    • Lasset, Christine;
    • Fricker, Jean-Pierre;
    • Berthet, Pascaline;
    • Mari, Véronique;
    • Salle, Lucie;
    • Schmidt, Marjanka K.;
    • Ausems, Margreet G. E. M.;
    • Garcia, Encarnacion B. Gomez;
    • van de Beek, Irma;
    • Wevers, Marijke R.;
    • Evans, D. Gareth;
    • Tischkowitz, Marc;
    • Lalloo, Fiona;
    • Cook, Jackie
    Publication type:
    Article
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    The rs10993994 Risk Allele for Prostate Cancer Results in Clinically Relevant Changes in Microseminoprotein-Beta Expression in Tissue and Urine.

    Published in:
    PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0013363
    By:
    • Whitaker, Hayley C.;
    • Kote-Jarai, Zsofia;
    • Ross-Adams, Helen;
    • Warren, Anne Y.;
    • Burge, Johanna;
    • George, Anne;
    • Bancroft, Elizabeth;
    • Jhavar, Sameer;
    • Leongamornlert, Daniel;
    • Tymrakiewicz, Malgorzata;
    • Saunders, Edward;
    • Page, Elizabeth;
    • Mitra, Anita;
    • Mitchell, Gillian;
    • Lindeman, Geoffrey J.;
    • Evans, D. Gareth;
    • Blanco, Ignacio;
    • Mercer, Catherine;
    • Rubinstein, Wendy S.;
    • Clowes, Virginia
    Publication type:
    Article
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