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- [21] Pathogenic and Likely Pathogenic Missense Variants in Cardiovascular Disease Genes Cluster Around Functional DomainsCIRCULATION, 2020, 142Ten, Nicholas S.论文数: 0 引用数: 0 h-index: 0Grove, Megan论文数: 0 引用数: 0 h-index: 0Wand, Hannah论文数: 0 引用数: 0 h-index: 0Ison, Hannah论文数: 0 引用数: 0 h-index: 0Pariani, Mitchel论文数: 0 引用数: 0 h-index: 0Wheeler, Matthew T.论文数: 0 引用数: 0 h-index: 0Ashley, Euan A.论文数: 0 引用数: 0 h-index: 0Parikh, Victoria N.论文数: 0 引用数: 0 h-index: 0
- [22] Studying inborn errors of immunity to understand the pathogenic mechanisms underlying highly prevalent immune-mediated diseasesMINERVA PEDIATRICS, 2024,论文数: 引用数: h-index:机构:Cenzato, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Clin Surg Diagnost & Pediat Sci, Unit Pediat, Pavia, Italy Fdn IRCCS Polyclin San Matteo, Clin Pediat, Pavia, Italy Univ Pavia, Dept Clin Surg Diagnost & Pediat Sci, Unit Pediat, Pavia, ItalyTaietti, Ivan论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Clin Surg Diagnost & Pediat Sci, Unit Pediat, Pavia, Italy Fdn IRCCS Polyclin San Matteo, Clin Pediat, Pavia, Italy Univ Pavia, Dept Clin Surg Diagnost & Pediat Sci, Unit Pediat, Pavia, ItalyLicari, Amelia论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Clin Surg Diagnost & Pediat Sci, Unit Pediat, Pavia, Italy Fdn IRCCS Polyclin San Matteo, Clin Pediat, Pavia, Italy Univ Pavia, Dept Clin Surg Diagnost & Pediat Sci, Unit Pediat, Pavia, ItalyMarseglia, Gian L.论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Clin Surg Diagnost & Pediat Sci, Unit Pediat, Pavia, Italy Fdn IRCCS Polyclin San Matteo, Clin Pediat, Pavia, Italy Univ Pavia, Dept Clin Surg Diagnost & Pediat Sci, Unit Pediat, Pavia, Italy
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- [24] Novel, likely pathogenic, sequence variants in hereditary neuropathy genesEUROPEAN JOURNAL OF NEUROLOGY, 2018, 25 : 343 - 343Braathen, G. J.论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp, Med Genet Sect, Dept Laboratoy Med, Skien, Norway Telemark Hosp, Med Genet Sect, Dept Laboratoy Med, Skien, NorwayTveten, K.论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp, Med Genet Sect, Dept Laboratoy Med, Skien, Norway Telemark Hosp, Med Genet Sect, Dept Laboratoy Med, Skien, NorwayStrand, L.论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp, Med Genet Sect, Dept Laboratoy Med, Skien, Norway Telemark Hosp, Med Genet Sect, Dept Laboratoy Med, Skien, NorwayHolla, O. L.论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp, Med Genet Sect, Dept Laboratoy Med, Skien, Norway Telemark Hosp, Med Genet Sect, Dept Laboratoy Med, Skien, NorwayBusk, O. L.论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp, Med Genet Sect, Dept Laboratoy Med, Skien, Norway Telemark Hosp, Med Genet Sect, Dept Laboratoy Med, Skien, NorwayHilmarsen, H. T.论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp, Med Genet Sect, Dept Laboratoy Med, Skien, Norway Telemark Hosp, Med Genet Sect, Dept Laboratoy Med, Skien, NorwaySvendsen, M.论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp, Med Genet Sect, Dept Laboratoy Med, Skien, Norway Telemark Hosp, Med Genet Sect, Dept Laboratoy Med, Skien, NorwayHoyer, H.论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp, Med Genet Sect, Dept Laboratoy Med, Skien, Norway Telemark Hosp, Med Genet Sect, Dept Laboratoy Med, Skien, Norway
- [25] Unveiling the differential disease spectrum in carriers of Pathogenic and Likely Pathogenic germline CTNNA1 variantsEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 11 - 12Lobo, Silvana论文数: 0 引用数: 0 h-index: 0机构: i3S Inst Invest & Inovacao Saude, Porto, Portugal Univ Porto, PATIMUP Inst Mol Pathol & Immunol, Porto, Portugal Univ Porto, Int Doctoral Programme Mol & Cellular Biotechnol, Inst Biomed Sci Abel Salazar ICBAS, Porto, Portugal i3S Inst Invest & Inovacao Saude, Porto, PortugalBenusiglio, Patrick论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Unite Fonct Oncogenet Clin, Dept Genet, Grp Hosp Pitie Salpetriere,AP HP, Paris, France Sorbonne Univ, Chirurg Gen & Digest, Hop St Antoine, AP HP, Paris, France i3S Inst Invest & Inovacao Saude, Porto, PortugalCoulet, Florence论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Dept Genet Med, Unite Fonct Onco Angiogenet & Genom Tumeurs Solid, Hop Pitie Salpetriere,AP HP, Paris, France i3S Inst Invest & Inovacao Saude, Porto, PortugalBoussemart, Lise论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, INSERM, Immunol & New Concepts ImmunoTherapy, INCIT, Nantes, France i3S Inst Invest & Inovacao Saude, Porto, PortugalLisa, Golmard论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Sci Lettres, Inst Curie, Dept Genet, Paris, France i3S Inst Invest & Inovacao Saude, Porto, PortugalSpier, Isabel论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Med Fac, Bonn, Germany Univ Hosp Bonn, Natl Ctr Hereditary Tumor Syndromes, Bonn, Germany i3S Inst Invest & Inovacao Saude, Porto, PortugalHueneburg, Robert论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bonn, Natl Ctr Hereditary Tumor Syndromes, Bonn, Germany Univ Hosp Bonn, Dept Internal Med, Bonn, Germany i3S Inst Invest & Inovacao Saude, Porto, PortugalAretz, Stefan论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bonn, Natl Ctr Hereditary Tumor Syndromes, Bonn, Germany i3S Inst Invest & Inovacao Saude, Porto, Portugalvan Hest, Liselotte P.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Dept Clin Genet, Amsterdam UMC, Amsterdam, Netherlands i3S Inst Invest & Inovacao Saude, Porto, PortugalBalmana, Judith论文数: 0 引用数: 0 h-index: 0机构: Hosp Valle De Hebron, Med Oncol Dept, Hereditary Canc Grp, Barcelona, Spain Vall dHebron Inst Oncol, Barcelona, Spain i3S Inst Invest & Inovacao Saude, Porto, PortugalTinschert, Sigrid论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Div Human Genet, Innsbruck, Austria i3S Inst Invest & Inovacao Saude, Porto, PortugalKatona, Bryson论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Div Gastroenterol & Hepatol, Perelman Sch Med, Philadelphia, PA USA i3S Inst Invest & Inovacao Saude, Porto, PortugalColas, Chrystelle论文数: 0 引用数: 0 h-index: 0机构: i3S Inst Invest & Inovacao Saude, Porto, PortugalPereira, Paulo论文数: 0 引用数: 0 h-index: 0机构: i3S Inst Invest & Inovacao Saude, Porto, Portugal IBMC Inst Biol Mol & Celular, Porto, Portugal i3S Inst Invest & Inovacao Saude, Porto, PortugalOliveira, Carla论文数: 0 引用数: 0 h-index: 0机构: i3S Inst Invest & Inovacao Saude, Porto, Portugal Univ Porto, PATIMUP Inst Mol Pathol & Immunol, Porto, Portugal Univ Porto, FMUP Fac Med, Porto, Portugal i3S Inst Invest & Inovacao Saude, Porto, Portugal
- [26] Describing the cancer spectrum in families with CHEK2 pathogenic and likely pathogenic variants by mutation typeCANCER RESEARCH, 2021, 81 (04)Moroney, Julia G.论文数: 0 引用数: 0 h-index: 0机构: Progenity Inc, Ann Arbor, MI USA Progenity Inc, Ann Arbor, MI USABasiliere, Michele S.论文数: 0 引用数: 0 h-index: 0机构: Progenity Inc, Ann Arbor, MI USA Progenity Inc, Ann Arbor, MI USA
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- [28] Prevalence of Pathogenic or Likely Pathogenic Germline Variants in Cancer Predisposition Genes in Selected Lung Adenocarcinoma PatientsJOURNAL OF THORACIC ONCOLOGY, 2024, 19 (10) : S110 - S110Arrieta, O.论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Cancerol, Mexico City, DF, Mexico Inst Nacl Cancerol, Mexico City, DF, MexicoCaballe-Perez, E.论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Cancerol, Mexico City, DF, Mexico Inst Nacl Cancerol, Mexico City, DF, MexicoHernandez-Pedro, N.论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Cancerol, Mexico City, DF, Mexico Inst Nacl Cancerol, Mexico City, DF, MexicoRomero-Nunez, E.论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Cancerol, Mexico City, DF, Mexico Inst Nacl Cancerol, Mexico City, DF, MexicoLucio-Lozada, J.论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Cancerol, Mexico City, DF, Mexico Inst Nacl Cancerol, Mexico City, DF, MexicoCastillo-Ruiz, C.论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Cancerol, Mexico City, DF, Mexico Inst Nacl Cancerol, Mexico City, DF, MexicoAcevedo-Castillo, K.论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Med Genom, Mexico City, DF, Mexico Inst Nacl Cancerol, Mexico City, DF, MexicoAlvarez-Gomez, R. M.论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Cancerol, Mexico City, DF, Mexico Inst Nacl Cancerol, Mexico City, DF, MexicoMolina-Garay, C.论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Med Genom, Mexico City, DF, Mexico Inst Nacl Cancerol, Mexico City, DF, MexicoJimenez-Olivares, M.论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Med Genom, Mexico City, DF, Mexico Inst Nacl Cancerol, Mexico City, DF, MexicoCarrillo-Sanchez, K.论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Med Genom, Mexico City, DF, Mexico Inst Nacl Cancerol, Mexico City, DF, MexicoMendoza-Caamal, E. C.论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Med Genom, Mexico City, DF, Mexico Inst Nacl Cancerol, Mexico City, DF, MexicoCardona, A. F.论文数: 0 引用数: 0 h-index: 0机构: Canc Treatment & Res Ctr, Bogota, Colombia Inst Nacl Cancerol, Mexico City, DF, MexicoRemon, J.论文数: 0 引用数: 0 h-index: 0机构: Gustave Roussy Canc Campus, Villejuif, France Inst Nacl Cancerol, Mexico City, DF, MexicoAlaez-Verson, C.论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Med Genom, Mexico City, DF, Mexico Inst Nacl Cancerol, Mexico City, DF, Mexico
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England Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, EnglandBurren, Oliver S.论文数: 0 引用数: 0 h-index: 0机构: AstraZeneca, BioPharmaceut R&D, Ctr Genom Res, Discovery Sci, Cambridge, England Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, England论文数: 引用数: h-index:机构:Bender, Isobel论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Dept Biochem, Oxford, England Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, EnglandCallahan, Tiffany J.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Irving Med Ctr, Dept Biomed Informat, New York, NY USA Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, EnglandFleming, Kathryn论文数: 0 引用数: 0 h-index: 0机构: Univ Bristol, Sch Cellular & Mol Med, Bristol, England Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, EnglandGuerrero, Jose A.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Natl Hlth Serv Blood & Transplant, Cambridge Biomed Campus, Cambridge, England Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, England论文数: 引用数: h-index:机构:Martin, Maria J.论文数: 0 引用数: 0 h-index: 0机构: European Mol Biol Lab, European Bioinformat Inst, Wellcome Genome Campus, Cambridge, England Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, England论文数: 引用数: h-index:机构:Paneerselvam, Kalpana论文数: 0 引用数: 0 h-index: 0机构: European Mol Biol Lab, European Bioinformat Inst, Wellcome Genome Campus, Cambridge, England Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, EnglandPetrovski, Slave论文数: 0 引用数: 0 h-index: 0机构: AstraZeneca, Ctr Genom Res, Discovery Sci, Cambridge, England Univ Melbourne, Dept Med, Austin Hlth, Melbourne, Australia Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, EnglandPorras, Pablo论文数: 0 引用数: 0 h-index: 0机构: European Mol Biol Lab, European Bioinformat Inst, Wellcome Genome Campus, Cambridge, England Swiss Fed Inst Technol, Inst Mol Syst Biol, Zurich, Switzerland AstraZeneca, R&D Data Off, BioPharmaceut R&D, Data Sci & Artificial Intelligence, Cambridge, England Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, EnglandRobinson, Peter N.论文数: 0 引用数: 0 h-index: 0机构: Jackson Lab, Genom Med, Farmington, CT USA Univ Connecticut, Inst Syst Genom, Farmington, CT USA Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, EnglandWang, Quanli论文数: 0 引用数: 0 h-index: 0机构: AstraZeneca, BioPharmaceut R&D, Ctr Genom Res, Discovery Sci, Cambridge, England Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, England论文数: 引用数: h-index:机构:Frontini, Mattia论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, England Univ Cambridge, Natl Hlth Serv Blood & Transplant, Cambridge Biomed Campus, Cambridge, England Univ Cambridge, British Heart Fdn, BHF Ctr Res Excellence, Cambridge Biomed Campus, Cambridge, England Univ Exeter, Fac Hlth & Life Sci, Med Sch, Dept Clin & Biomed Sci, RILD Bldg, Exeter, Devon, England Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, EnglandLaskowski, Roman A.论文数: 0 引用数: 0 h-index: 0机构: European Mol Biol Lab, European Bioinformat Inst, Wellcome Genome Campus, Cambridge, England Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, EnglandBeltrao, Pedro论文数: 0 引用数: 0 h-index: 0机构: Swiss Fed Inst Technol, Inst Mol Syst Biol, Zurich, Switzerland Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, England论文数: 引用数: h-index:机构:Gomez, Keith论文数: 0 引用数: 0 h-index: 0机构: Royal Free London NHS Fdn Trust, Haemophilia Ctr, London, England Royal Free London NHS Fdn Trust, Thrombosis Unit, London, England Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, EnglandLaffan, Mike论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll Healthcare NHS Trust, Dept Haematol, London, England Imperial Coll London, Ctr Haematol, Dept Immunol & Inflammat, London, England Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, EnglandOuwehand, Willem H.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, England Univ Cambridge, Natl Hlth Serv Blood & Transplant, Cambridge Biomed Campus, Cambridge, England Univ Coll London Hosp NHS trust, Dept Haematol, London, England Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, EnglandMumford, Andrew D.论文数: 0 引用数: 0 h-index: 0机构: Univ Bristol, Sch Cellular & Mol Med, Bristol, England Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, EnglandFreson, Kathleen论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Ctr Mol & Vasc Biol, Dept Cardiovasc Sci, Leuven, Belgium Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, EnglandCarss, Keren论文数: 0 引用数: 0 h-index: 0机构: AstraZeneca, BioPharmaceut R&D, Ctr Genom Res, Discovery Sci, Cambridge, England Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, England论文数: 引用数: h-index:机构:Gleadall, Nick论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, England Univ Cambridge, Natl Hlth Serv Blood & Transplant, Cambridge Biomed Campus, Cambridge, England Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, England论文数: 引用数: h-index:机构:Bruford, Elspeth论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, England European Mol Biol Lab, European Bioinformat Inst, Wellcome Genome Campus, Cambridge, England Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, EnglandVuckovic, Dragana论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, Dept Epidemiol & Biostat, London, England Imperial Coll London, Dept Epidemiol & Biostat, Praed St, London W2 1NY, England Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, England
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