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- [1] The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participantsBLOOD, 2023, 142 (24) : 2055 - 2068论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Sims, Matthew C.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 Sheffield Teaching Hosp NHS Fdn Trust, Royal Hallamshire Hosp, Dept Haematol, Sheffield, England Univ Sheffield, Dept Oncol & Metab, Sheffield, England Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, EnglandBarrio-Hernandez, Inigo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, EnglandSun, Luanluan论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Publ Hlth & Primary Care, BHF Cardiovasc Epidemiol Unit, Cambridge, 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
- [2] Cognitive performance and functional outcomes of carriers of pathogenic copy number variants: analysis of the UK BiobankBRITISH JOURNAL OF PSYCHIATRY, 2019, 214 (05) : 297 - 304Kendall, Kimberley M.论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, WalesBracher-Smith, Matthew论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, WalesFitzpatrick, Harry论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Sch Med, Cardiff, S Glam, Wales Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, WalesLynham, Amy论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, WalesRees, Elliott论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, WalesEscott-Price, Valentina论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Dementia Res Inst, Cardiff, S Glam, Wales Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, WalesOwen, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales Cardiff Univ, Div Psychol Med & Clin Neurosci, Cardiff, S Glam, Wales Cardiff Univ, Neurosci & Mental Hlth Res Inst, Cardiff, S Glam, Wales Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, WalesO'Donovan, Michael C.论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Div Psychol Med & Clin Neurosci, Cardiff, S Glam, Wales Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, WalesWalters, James T. R.论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Div Psychol Med & Clin Neurosci, Cardiff, S Glam, Wales Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, WalesKirov, George论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Div Psychol Med & Clin Neurosci, Cardiff, S Glam, Wales Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales
- [3] 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
- [4] Cognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank SubjectsBIOLOGICAL PSYCHIATRY, 2017, 82 (02) : 103 - 110Kendall, Kimberley M.论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Sch Med, Div Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales Cardiff Univ, Sch Med, Div Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, WalesRees, Elliott论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Sch Med, Div Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales Cardiff Univ, Sch Med, Div Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, WalesEscott-Price, Valentina论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Sch Med, Div Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales Cardiff Univ, Sch Med, Div Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, WalesEinon, Mark论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Sch Med, Div Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales Cardiff Univ, Sch Med, Div Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, WalesThomas, Rhys论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Sch Med, Div Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales Cardiff Univ, Sch Med, Div Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, WalesHewitt, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Llandough Hosp, Div Populat Med, Dept Geriatr Med, Penarth, S Glam, Wales Cardiff Univ, Sch Med, Div Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, WalesO'Donovan, Michael C.论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Sch Med, Div Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales Cardiff Univ, Sch Med, Div Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, WalesOwen, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Sch Med, Div Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales Cardiff Univ, Sch Med, Div Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, WalesWalters, James T. R.论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Sch Med, Div Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales Cardiff Univ, Sch Med, Div Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, WalesKirov, George论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Sch Med, Div Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales Cardiff Univ, Sch Med, Div Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales
- [5] Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation SequencingINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (23)Razman, Aimi Zafira论文数: 0 引用数: 0 h-index: 0机构: Univ Teknol MARA, Inst Pathol, Lab & Forens Med I PPerForM, Sungai Buloh 47000, Selangor, Malaysia Univ Teknol MARA, Inst Pathol, Lab & Forens Med I PPerForM, Sungai Buloh 47000, Selangor, MalaysiaChua, Yung-An论文数: 0 引用数: 0 h-index: 0机构: Univ Teknol MARA, Inst Pathol, Lab & Forens Med I PPerForM, Sungai Buloh 47000, Selangor, Malaysia Univ Teknol MARA, Dept Biochem & Mol Med, Sungai Buloh 47000, Selangor, Malaysia Univ Teknol MARA, Inst Pathol, Lab & Forens Med I PPerForM, Sungai Buloh 47000, Selangor, MalaysiaMohd Kasim, Noor Alicezah论文数: 0 引用数: 0 h-index: 0机构: Univ Teknol MARA, Inst Pathol, Lab & Forens Med I PPerForM, Sungai Buloh 47000, Selangor, Malaysia Univ Teknol MARA, Dept Pathol, Sungai Buloh 47000, Selangor, Malaysia Univ Teknol MARA, Inst Pathol, Lab & Forens Med I PPerForM, Sungai Buloh 47000, Selangor, MalaysiaAl-Khateeb, Alyaa论文数: 0 引用数: 0 h-index: 0机构: Univ Teknol MARA, Inst Pathol, Lab & Forens Med I PPerForM, Sungai Buloh 47000, Selangor, Malaysia Univ Teknol MARA, Dept Biochem & Mol Med, Sungai Buloh 47000, Selangor, Malaysia Univ Teknol MARA, Inst Pathol, Lab & Forens Med I PPerForM, Sungai Buloh 47000, Selangor, MalaysiaKadir, Siti Hamimah Sheikh Abdul论文数: 0 引用数: 0 h-index: 0机构: Univ Teknol MARA, Inst Pathol, Lab & Forens Med I PPerForM, Sungai Buloh 47000, Selangor, Malaysia Univ Teknol MARA, Dept Biochem & Mol Med, Sungai Buloh 47000, Selangor, Malaysia Univ Teknol MARA, Inst Pathol, Lab & Forens Med I PPerForM, Sungai Buloh 47000, Selangor, MalaysiaJusoh, Siti Azma论文数: 0 引用数: 0 h-index: 0机构: Univ Teknol MARA, Inst Pathol, Lab & Forens Med I PPerForM, Sungai Buloh 47000, Selangor, Malaysia Univ Teknol MARA, Fac Pharm, Puncak Alam Campus, Bandar Puncak Alam 42300, Selangor, Malaysia Univ Teknol MARA, Inst Pathol, Lab & Forens Med I PPerForM, Sungai Buloh 47000, Selangor, MalaysiaNawawi, Hapizah论文数: 0 引用数: 0 h-index: 0机构: Univ Teknol MARA, Inst Pathol, Lab & Forens Med I PPerForM, Sungai Buloh 47000, Selangor, Malaysia Univ Teknol MARA, Dept Pathol, Sungai Buloh 47000, Selangor, Malaysia Univ Teknol MARA, Inst Pathol, Lab & Forens Med I PPerForM, Sungai Buloh 47000, Selangor, Malaysia
- [6] A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect predictionFRONTIERS IN MOLECULAR BIOSCIENCES, 2023, 10Bohn, Emma论文数: 0 引用数: 0 h-index: 0机构: Deep Genom Inc, Toronto, ON, Canada Deep Genom Inc, Toronto, ON, CanadaLau, Tammy T. Y.论文数: 0 引用数: 0 h-index: 0机构: Deep Genom Inc, Toronto, ON, Canada Deep Genom Inc, Toronto, ON, CanadaWagih, Omar论文数: 0 引用数: 0 h-index: 0机构: Deep Genom Inc, Toronto, ON, Canada Deep Genom Inc, Toronto, ON, CanadaMasud, Tehmina论文数: 0 引用数: 0 h-index: 0机构: Deep Genom Inc, Toronto, ON, Canada Deep Genom Inc, Toronto, ON, CanadaMerico, Daniele论文数: 0 引用数: 0 h-index: 0机构: Deep Genom Inc, Toronto, ON, Canada Hosp Sick Children, Ctr Appl Genom, Toronto, ON, Canada Vevo Therapeut, San Francisco, CA 94107 USA Deep Genom Inc, Toronto, ON, Canada
- [7] Investigating the impact of rare pathogenic variants linked to Intellectual Disability genes on cognitive ability in adults: exome analysis of the UK Biobank cohortEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 679 - 679论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Vachon, Keely论文数: 0 引用数: 0 h-index: 0机构: Univ Alberta, Dept Pediat Neurol, Edmonton, AB, Canada European Mol Biol Lab, European Bioinformat Inst, Cambridge, EnglandLeclercq, Mickael论文数: 0 引用数: 0 h-index: 0机构: Laval Univ, Dept Med Mol, Quebec City, PQ, Canada European Mol Biol Lab, European Bioinformat Inst, Cambridge, EnglandDroit, Arnaud论文数: 0 引用数: 0 h-index: 0机构: Laval Univ, Dept Med Mol, Quebec City, PQ, Canada European Mol Biol Lab, European Bioinformat Inst, Cambridge, EnglandDunham, Ian论文数: 0 引用数: 0 h-index: 0机构: European Mol Biol Lab, European Bioinformat Inst, Cambridge, EnglandBolduc, Francois论文数: 0 引用数: 0 h-index: 0机构: Univ Alberta, Dept Pediat Neurol, Edmonton, AB, Canada Univ Alberta, Sch Publ Policy, Edmonton, AB, Canada Univ Alberta, Dept Med Genet, Edmonton, AB, Canada Univ Alberta, Neurosci & Mental Hlth Inst, Edmonton, AB, Canada European Mol Biol Lab, European Bioinformat Inst, Cambridge, England
- [8] Differences among a Portuguese cohort of BRCA pathogenic/likely pathogenic variants carriers choosing risk-reducing mastectomy or intensive breast surveillanceJournal of Cancer Research and Clinical Oncology, 2023, 149 : 7529 - 7538Sandra Torres论文数: 0 引用数: 0 h-index: 0机构: Faculdade de Medicina da Universidade do Porto,Breast CenterBárbara Peleteiro论文数: 0 引用数: 0 h-index: 0机构: Faculdade de Medicina da Universidade do Porto,Breast CenterAndré Magalhães论文数: 0 引用数: 0 h-index: 0机构: Faculdade de Medicina da Universidade do Porto,Breast CenterLuzia Garrido论文数: 0 引用数: 0 h-index: 0机构: Faculdade de Medicina da Universidade do Porto,Breast CenterSusy Costa论文数: 0 引用数: 0 h-index: 0机构: Faculdade de Medicina da Universidade do Porto,Breast CenterJosé Luís Fougo论文数: 0 引用数: 0 h-index: 0机构: Faculdade de Medicina da Universidade do Porto,Breast Center
- [9] Differences among a Portuguese cohort of BRCA pathogenic/likely pathogenic variants carriers choosing risk-reducing mastectomy or intensive breast surveillanceJOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY, 2023, 149 (10) : 7529 - 7538Torres, Sandra论文数: 0 引用数: 0 h-index: 0机构: Univ Porto, Fac Med, P-4200319 Porto, Portugal Univ Porto, Fac Med, P-4200319 Porto, PortugalPeleteiro, Barbara论文数: 0 引用数: 0 h-index: 0机构: Univ Porto, Fac Med, P-4200319 Porto, Portugal Ctr Hosp Univ Sao Joao, Breast Ctr, P-4200319 Porto, Portugal Univ Porto, Inst Publ Hlth, EPI Unit, P-4050600 Porto, Portugal Univ Porto, Lab Integrat & Translat Res Populat Hlth, P-4050600 Porto, Portugal Univ Porto, Fac Med, P-4200319 Porto, PortugalMagalhaes, Andre论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Sao Joao, Breast Ctr, P-4200319 Porto, Portugal Univ Porto, Fac Med, P-4200319 Porto, PortugalGarrido, Luzia论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Sao Joao, Breast Ctr, P-4200319 Porto, Portugal Ctr Hosp & Univ Sao Joao, Med Genet Serv, P-4200319 Porto, Portugal Univ Porto, Fac Med, P-4200319 Porto, PortugalCosta, Susy论文数: 0 引用数: 0 h-index: 0机构: Univ Porto, Fac Med, P-4200319 Porto, Portugal Ctr Hosp Univ Sao Joao, Breast Ctr, P-4200319 Porto, Portugal Univ Porto, Fac Med, P-4200319 Porto, PortugalFougo, Jose Luis论文数: 0 引用数: 0 h-index: 0机构: Univ Porto, Fac Med, P-4200319 Porto, Portugal Ctr Hosp Univ Sao Joao, Breast Ctr, P-4200319 Porto, Portugal Univ Porto, Fac Med, P-4200319 Porto, Portugal
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