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Adam M. BournazosLisa G. RileyShobhana BommireddipalliLesley AdesLauren S. AkessonMohammad Al-ShinnagStephen I. AlexanderAlison D. ArchibaldShanti BalasubramaniamYemima BermanVictoria BeshayKirsten BoggsJasmina BojadzievaNatasha J. BrownSamantha J. BryenMichael F. BuckleyBelinda ChongMark R. DavisRuebena DawesMartin DelatyckiLiz DonaldsonLilian DownieCaitlin EdwardsMatthew EdwardsAmanda EngelLisa J. EwansFathimath FaizAndrew FennellMichael FieldMary-Louise FreckmannLyndon GallacherRussell GearHimanshu GoelShuxiang GohLinda GoodwinBernadette HannaJames HarrawayMegan HigginsGladys HoBruce K. HopperAri E. HortonMatthew F. HunterAamira J. HuqSarah Josephi-TaylorHimanshu JoshiEdwin KirkEmma KrzesinskiKishore R. KumarFrances LemckertRichard J. LeventerSuzanna E. Lindsey-TempleSebastian LunkeAlan MaSteven MacaskillAmali MallawaarachchiMelanie MartyJustine E. MarumHugh J. McCarthyManoj P. MenezesAlison McLeanDi MilnesShekeeb MohammadDavid MowatAram NiazElizabeth E. PalmerChirag PatelShilpan G. PatelDean PhelanJason R. PinnerSulekha RajagopalanMatthew ReganJonathan RodgersMiriam RodriguesRichard H. RoxburghRani SachdevTony RoscioliRuvishani SamarasekeraSarah A. SandaraduraElena SavvaTim SchindlerMargit ShahIngrid B. SinnerbrinkJanine M. SmithRichard J. SmithAmanda SpringerZornitza StarkSamuel P. StromCarolyn M. SueKenneth TanTiong Y. TanEsther TantsisMichel C. TchanBryony A. ThompsonAlison H. TrainerKarin van Spaendonck-ZwartsRebecca WalshLinda WarwickStephanie WhiteSusan M. WhiteMark G. WilliamsMeredith J. WilsonWui Kwan WongDale C. WrightPatrick YapAlison YeungHelen YoungKristi J. JonesBruce BennettsSandra T. CooperGhusoon AbdulrasoolGhamdan Al EryaniPeer ArtsRichard BagnallNaomi L. BakerChristopher BarnettSarah BeecroftMarina BerbicMichael BlackJim BlackburnPiers BlomberySusan BranfordJimmy BreenLeslie BurnettDaffodil CansonPak CheongEdward ChewJohn ChristodoulouSeo-Kyung ChungMike ClarkCorrina CliffeMelissa ColeFelicity CollinsAlison ComptonAntony CooperMark CorbettMark CowleyTracy DuddingStefanie EggersEduardo EyrasMiriam Fanjul FernandezAndrew FellowesRon FleischerChiara FollandLucy FoxClara GaffMelanie GaleaRoula GhaouiIlias GornanitisThuong HaRippei HayashiIan HayesAlex HendersonLuke HessonErin HeyerMichael HildebrandMichael HipwellCass HoskinsMatilda JacksonPaul JamesJustin Jong-Leong WongKarin KassahnPeter KaubLucy KevinSmitha KumbleSarah KummerfeldNigel LaingChiyan LauEric LeeSarah LeightonBen LundieChelsea MayohJulie McGaughranMary McPhillipsCliff MeldrumEdwina MiddletonKym MinaAmy NisselleEmily OatesAlicia OshlackGayathri ParasivamMichael ParsonsMichael QuinnJohn RaskoGina RavenscroftAnja RavineKrista RecseiJacqueline RehnStephen RobertsonAnne RonanGeorgina RylandSimon SadedinAndreas SchreiberHamish ScottRodney ScottChristopher SemsarianCas SimonsEmma SingerRenee SmythAmanda SpurdlePatricia SullivanSamantha SundercombeDavid ThorburnJohn ToubiaRonald TrentEmma TudiniIrina VoneagueLeigh WaddellLogan WalkerMathew WallisNick WarnockRobert WeatherittDeborah WhiteIngrid WinshipLisa WorganKathy WuAndrew Ziolowski
Genetics in Medicine. 24:130-145
Academic Journal
Michael T. ParsonsEmma TudiniHongyan LiEric HahnenBarbara WappenschmidtLidia FeliubadalóCora M. AalfsSimona AgataKristiina AittomäkiElisa AlducciMaría Concepción Alonso‐CerezoNorbert ArnoldBernd AuberRachel AustinJacopo AzzolliniJudith BalmañaElena BarbieriClaus R. BartramAna BlancoBritta BlümckeSandra BonacheBernardo BonanniÅke BorgBeatrice BortesiJoan BrunetCarla BruzzoneKarolin BuckschGiulia CagnoliTrinidad CaldésAlmuth CaliebeMaria A. CaligoMariarosaria CalvelloGabriele L. CaponeSandrine M. CaputoIleana CarnevaliEstela CarrascoVirginie Caux‐MoncoutierPietro CavalliGiulia CiniEdward M. ClarkePaola ConcolinoElisa J. CopsLaura CortesiFergus J. CouchEsther DarderMiguel HoyaMichael DeanIrmgard DebatinJesús Del ValleCapucine DelnatteNicolas DeriveOrland DiezNina DitschSusan M. DomchekVéronique DutrannoyDiana M. EcclesHans EhrencronaUte EndersD. Gareth EvansChantal FarraUlrike FaustUte FelborIrene FeroceMiriam FineWilliam D. FoulkesHenrique C.R. GalvaoGaetana GambinoAndrea GehrigFrancesca GensiniAnne‐Marie GerdesAldo GermaniJutta GieseckeViviana GismondiCarolina GómezEncarna B. GarciaSara GonzálezElia GrauSabine GrillEva GrossAliana Guerrieri‐GonzagaMarine Guillaud‐BatailleSara Gutiérrez‐EnríquezThomas HaafKarl HackmannThomas V.O. HansenMarion HarrisJan HaukeTilman HeinrichHeide HellebrandKaren N. HeroldEllen HonischJudit HorvathClaude HoudayerVerena HübbelSilvia IglesiasAngel IzquierdoPaul A. JamesLinda A.M. JanssenUdo JeschkeSilke KaulfußKatharina KeuppMarion KiechleAlexandra KölblSophie KriegerTorben A. KruseAnders KvistFiona LallooMirjam LarsenVanessa L. LattimoreCharlotte LautrupSusanne LedigElena LeinertAlexandra L. LewisJoanna LimMarkus LoefflerAdrià López‐FernándezEmanuela Lucci‐CordiscoNicolai MaassSiranoush ManoukianMonica MarabelliLaura MatricardiAlfons MeindlRodrigo D. MichelliSetareh MoghadasiAlejandro Moles‐FernándezMarco MontagnaGemma MontalbanAlvaro N. MonteiroEva MontesLuigi MoriLidia MoserleClemens R. MüllerChristoph MundhenkeNadia NaldiKatherine L. NathansonMatilde NavarroHeli NevanlinnaCassandra B. NicholsDieter NiederacherHenriette R. NielsenKai‐ren OngNicholas PachterEdenir I. PalmeroLaura PapiInge Sokilde PedersenBernard PeisselPedro Perez‐SeguraKatharina PfeiferMarta PinedaEsther Pohl‐RescignoNicola K. PoplawskiBerardino PorfirioAnne S. QuanteJuliane RamserRui M. ReisFrançoise RevillionKerstin RhiemBarbara RiboliJulia RitterDaniela RiveraPaula RofesAndreas RumpMonica SalinasAna María Sánchez de AbajoGunnar SchmidtUlrike SchoenwieseJochen SeggewißAres SolanesDoris SteinemannMathias StillerDominique Stoppa‐LyonnetKelly J. SullivanRachel SusmanChristian SutterSean V. TavtigianSoo H. TeoAlex TeuléMads ThomassenMaria Grazia TibilettiMarc TischkowitzSilvia TognazzoAmanda E. TolandEva TorneroTherese TörngrenSara Torres‐EsquiusAngela TossAlison H. TrainerKatherine M. TuckerChristi J. AsperenMarion T. MackelenberghLiliana VarescoGardenia Vargas‐ParraRaymonda VaronAna VegaÁngela VelascoAnne‐Sophie VesperAlessandra VielMaaike P. G. VreeswijkSebastian A. WagnerAnke WahaLogan C. WalkerRhiannon J. WaltersShan Wang‐GohrkeBernhard H. F. WeberWilko WeichertKerstin WielandLisa WiesmüllerIsabell WitzelAchim WöckelEmma R. WoodwardSilke ZachariaeValentina ZampigaChristine Zeder‐GößKConFab InvestigatorsConxi LázaroArcangela NicoloPaolo RadiceChristoph EngelRita K. SchmutzlerDavid E. GoldgarAmanda B. Spurdle
Hum Mutat
Human Mutation
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Dipòsit Digital de la UB
Universidad de Barcelona
instname
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Darder, E, de la Hoya, M, Dean, M, Debatin, I, del Valle, J, Delnatte, C, Derive, N, Diez, O, Ditsch, N, Domchek, S M, Dutrannoy, V, Eccles, D M, Ehrencrona, H, Enders, U, Evans, D G, Faust, U, Felbor, U, Feroce, I, Fine, M, Galvao, H C R, Gambino, G, Gehrig, A, Gensini, F, Gerdes, A-M, Germani, A, Giesecke, J, Gismondi, V, Gómez, C, Gómez Garcia, E B, González, S, Grau, E, Grill, S, Gross, E, Guerrieri-Gonzaga, A, Guillaud-Bataille, M, Gutiérrez-Enríquez, S, Haaf, T, Hackmann, K, Hansen, T V O, Harris, M, Hauke, J, Heinrich, T, Hellebrand, H, Herold, K N, Honisch, E, Horvath, J, Houdayer, C, Hübbel, V, Iglesias, S, Izquierdo, A, James, P A, Janssen, L A M, Jeschke, U, Kaulfuß, S, Keupp, K, Kiechle, M, Kölbl, A, Krieger, S, Kruse, T A, Kvist, A, Lalloo, F, Larsen, M, Lattimore, V L, Lautrup, C, Ledig, S, Leinert, E, Lewis, A L, Lim, J, Loeffler, M, López-Fernández, A, Lucci-Cordisco, E, Maass, N, Manoukian, S, Marabelli, M, Matricardi, L, Meindl, A, Michelli, R D, Moghadasi, S, Moles-Fernández, A, Montagna, M, Montalban, G, Monteiro, A N, Montes, E, Mori, L, Moserle, L, Müller, C R, Mundhenke, C, Naldi, N, Nathanson, K L, Navarro, M, Nevanlinna, H, Nichols, C B, Niederacher, D, Nielsen, H R, Ong, K, Pachter, N, Palmero, E I, Papi, L, Pedersen, I S, Peissel, B, Pérez-Segura, P, Pfeifer, K, Pineda, M, Pohl-Rescigno, E, Poplawski, N K, Porfirio, B, Quante, A S, Ramser, J, Rei, R M, Revillion, F, Rhiem, K, Riboli, B, Ritter, J, Rivera, D, Rofes, P, Rump, A, Salinas, M, Sánchez de Abajo, A M, Schmidt, G, Schoenwiese, U, Seggewiß, J, Solanes, A, Steinemann, D, Stiller, M, Stoppa-Lyonnet, D, Sullivan, K J, Susman, R, Sutter, C, Tavtigian, S V, Teo, S H, Teulé, A, Thomassen, M, Tibiletti, M G, Tognazzo, S, Toland, A E, Tornero, E, Törngren, T, Torres-Esquius, S, Toss, A, Trainer, A H, van Asperen, C J, van Mackelenbergh, M T, Varesco, L, Vargas-Parra, G, Varon, R, Vega, A, Velasco, Á, Vesper, A-S, Viel, A, Vreeswijk, M P G, Wagner, S A, Waha, A, Walker, L C, Walters, R J, Wang-Gohrke, S, Weber, B H F, Weichert, W, Wieland, K, Wiesmüller, L, Witzel, I, Wöckel, A, Woodward, E R, Zachariae, S, Zampiga, V, Zeder-Göß, C, KConFab Investigators, Lázaro, C, De Nicolo, A, Radice, P, Engel, C, Schmutzler, R K, Goldgar, D E & Spurdle, A B 2019, 'Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification', Human Mutation, vol. 40, no. 9, pp. 1557-1578. https://doi.org/10.1002/humu.23818
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Darder, E, de la Hoya, M, Dean, M, Gerdes, A-M, Hansen, T V O, Wagner, S A & kConFab Investigators 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification ', Human Mutation, vol. 40, no. 9, pp. 1557-1578 . https://doi.org/10.1002/humu.23818
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Gerdes, A-M, Hansen, T V O, Kruse, T A, Nielsen, H R, Pedersen, I S, Lautrup, C K, Thomassen, M & kConFab Investigators 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification ', Human Mutation, vol. 40, no. 9, pp. 1557-1578 . https://doi.org/10.1002/humu.23818
Evans, D G, Lalloo, F, Woodward, E & et al. 2019, 'Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification', Human Mutation. https://doi.org/10.1002/humu.23818
Book
Clinical DNA Variant Interpretation ISBN: 9780128205198
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