共 50 条
- [21] Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disordersJOURNAL OF MEDICAL GENETICS, 2023, 60 (07) : 685 - 691Carrasco, Estela论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain Autonomous Univ Barcelona, Dept Pediat Obstet & Gynecol Preventat Med & Publ, Barcelona, Spain Vall dHebron Inst Oncol VHIO, Hereditary Canc Genet Grp, Med Oncol, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, SpainLopez-Fernandez, Adria论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain Vall dHebron Inst Oncol VHIO, Hereditary Canc Genet Grp, Med Oncol, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, SpainCodina-Sola, Marta论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Hosp Univ, Dept Clin & Mol Genet, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain Vall dHebron Hosp Univ, Vall dHebron Inst Recerca VHIR, Med Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain ERN ITHACA, European Reference Network Rare Congenital Malfor, Barcelona, Spain Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, SpainValenzuela, Irene论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Hosp Univ, Dept Clin & Mol Genet, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain Vall dHebron Hosp Univ, Vall dHebron Inst Recerca VHIR, Med Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain ERN ITHACA, European Reference Network Rare Congenital Malfor, Barcelona, Spain Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, SpainCueto-Gonzalez, Am论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Hosp Univ, Dept Clin & Mol Genet, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain Vall dHebron Hosp Univ, Vall dHebron Inst Recerca VHIR, Med Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain ERN ITHACA, European Reference Network Rare Congenital Malfor, Barcelona, Spain Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, SpainVillacampa, Guillermo论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Inst Oncol VHIO, Oncol Data Sci ODysSey Grp, Vail dHebron Barcelona Hosp Campus, Barcelona 08035, Spain Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, SpainNavarro, Victor论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Inst Oncol VHIO, Oncol Data Sci ODysSey Grp, Vail dHebron Barcelona Hosp Campus, Barcelona 08035, Spain Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, SpainTorres-Esquius, Sara论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Inst Oncol VHIO, Hereditary Canc Genet Grp, Med Oncol, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, SpainPalau, Dolors论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Hosp Univ, Dept Clin & Mol Genet, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain ERN ITHACA, European Reference Network Rare Congenital Malfor, Barcelona, Spain Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, SpainCruellas, Mara论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain Vall dHebron Inst Oncol VHIO, Hereditary Canc Genet Grp, Med Oncol, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, SpainTorres, Maite论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, SpainPerez-Duenas, Belen论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Vall dHebron Hosp Univ, Paediat Neurol Dept, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, SpainAbuli, Anna论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Hosp Univ, Dept Clin & Mol Genet, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain Vall dHebron Hosp Univ, Vall dHebron Inst Recerca VHIR, Med Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain ERN ITHACA, European Reference Network Rare Congenital Malfor, Barcelona, Spain Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, SpainDiez, Orland论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Inst Oncol VHIO, Hereditary Canc Genet Grp, Med Oncol, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain Vall dHebron Hosp Univ, Dept Clin & Mol Genet, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain ERN ITHACA, European Reference Network Rare Congenital Malfor, Barcelona, Spain Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, SpainSabado-Alvarez, Constantino论文数: 0 引用数: 0 h-index: 0机构: Dept Pediat Oncol & Hematol, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, SpainGarcia-Arumi, Elena论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Hosp Univ, Dept Clin & Mol Genet, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain Vall dHebron Hosp Univ, Vall dHebron Inst Recerca VHIR, Med Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain ERN ITHACA, European Reference Network Rare Congenital Malfor, Barcelona, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain Vall dHebron Hosp Univ, Vall dHebron Inst Recerca VHIR, Res Grp Neuromuscular & Mitochondria Disorders, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, SpainTizzano, Eduardo F.论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Hosp Univ, Dept Clin & Mol Genet, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain Vall dHebron Hosp Univ, Vall dHebron Inst Recerca VHIR, Med Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain ERN ITHACA, European Reference Network Rare Congenital Malfor, Barcelona, Spain Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, SpainMoreno, Lucas论文数: 0 引用数: 0 h-index: 0机构: Dept Pediat Oncol & Hematol, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain Vall dHebron Hosp Univ, Vall dHebron Inst Recerca VHIR, Childhood Canc & Blood Disorders Grp, Vall dHebron Barcelona Hosp Campus, Barcelona, Spain Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, SpainBalmana, Judith论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain Vall dHebron Inst Oncol VHIO, Hereditary Canc Genet Grp, Med Oncol, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain GENTURIS, European Reference Network GENTURIS, Barcelona, Spain Vall dHebron Hosp Univ, Med Oncol Dept, Hereditary Canc Genet Grp, Vall dHebron Barcelona Hosp Campus, Barcelona 08035, Spain
- [22] The additional clinical benefit of exome sequencing: the return of ACMG/AMP recommended incidental findings and data re-analysisEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1450 - 1450Wayhelova, Marketa论文数: 0 引用数: 0 h-index: 0机构: Inst Expt Biol, Dept Mol Genet, Brno, Czech Republic Inst Expt Biol, Dept Mol Genet, Brno, Czech RepublicSmetana, Jan论文数: 0 引用数: 0 h-index: 0机构: Inst Expt Biol, Dept Mol Genet, Brno, Czech Republic Inst Expt Biol, Dept Mol Genet, Brno, Czech RepublicVallova, Vladimira论文数: 0 引用数: 0 h-index: 0机构: Inst Expt Biol, Dept Mol Genet, Brno, Czech Republic Inst Expt Biol, Dept Mol Genet, Brno, Czech RepublicBroz, Petr论文数: 0 引用数: 0 h-index: 0机构: Inst Expt Biol, Dept Mol Genet, Brno, Czech Republic Inst Expt Biol, Dept Mol Genet, Brno, Czech RepublicGaillyova, Renata论文数: 0 引用数: 0 h-index: 0机构: Inst Med Genet & Genom, Brno, Czech Republic Inst Expt Biol, Dept Mol Genet, Brno, Czech RepublicKuglik, Petr论文数: 0 引用数: 0 h-index: 0机构: Inst Expt Biol, Dept Mol Genet, Brno, Czech Republic Inst Expt Biol, Dept Mol Genet, Brno, Czech Republic
- [23] Secondary findings in 622 Turkish clinical exome sequencing dataJournal of Human Genetics, 2021, 66 : 1113 - 1119Esra Arslan Ateş论文数: 0 引用数: 0 h-index: 0机构: Marmara University Pendik Training and Research Hospital,Ayberk Türkyilmaz论文数: 0 引用数: 0 h-index: 0机构: Marmara University Pendik Training and Research Hospital,Özlem Yıldırım论文数: 0 引用数: 0 h-index: 0机构: Marmara University Pendik Training and Research Hospital,Ceren Alavanda论文数: 0 引用数: 0 h-index: 0机构: Marmara University Pendik Training and Research Hospital,Hamza Polat论文数: 0 引用数: 0 h-index: 0机构: Marmara University Pendik Training and Research Hospital,Şenol Demir论文数: 0 引用数: 0 h-index: 0机构: Marmara University Pendik Training and Research Hospital,Alper Han Çebi论文数: 0 引用数: 0 h-index: 0机构: Marmara University Pendik Training and Research Hospital,Bilgen Bilge Geçkinli论文数: 0 引用数: 0 h-index: 0机构: Marmara University Pendik Training and Research Hospital,Ahmet İlter Güney论文数: 0 引用数: 0 h-index: 0机构: Marmara University Pendik Training and Research Hospital,Pınar Ata论文数: 0 引用数: 0 h-index: 0机构: Marmara University Pendik Training and Research Hospital,Ahmet Arman论文数: 0 引用数: 0 h-index: 0机构: Marmara University Pendik Training and Research Hospital,
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- [25] Criteria for reporting incidental findings in clinical exome sequencing - a focus group study on professional practices and perspectives in Belgian genetic centresBMC MEDICAL GENOMICS, 2019, 12 (01)Saelaert, Marlies论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Dept Publ Hlth & Primary Care, Philosophy Med & Eth Res Grp, Campus Heymans UZ Gent,Corneel Heymanslaan 10, B-9000 Ghent, Belgium Univ Ghent, Dept Publ Hlth & Primary Care, Philosophy Med & Eth Res Grp, Campus Heymans UZ Gent,Corneel Heymanslaan 10, B-9000 Ghent, BelgiumMertes, Heidi论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Bioeth Inst Ghent, Dept Philosophy & Moral Sci, Ghent, Belgium Univ Ghent, Dept Publ Hlth & Primary Care, Philosophy Med & Eth Res Grp, Campus Heymans UZ Gent,Corneel Heymanslaan 10, B-9000 Ghent, BelgiumMoerenhout, Tania论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Dept Publ Hlth & Primary Care, Philosophy Med & Eth Res Grp, Campus Heymans UZ Gent,Corneel Heymanslaan 10, B-9000 Ghent, Belgium Univ Ghent, Dept Philosophy & Moral Sci, Ghent, Belgium Univ Ghent, Dept Publ Hlth & Primary Care, Philosophy Med & Eth Res Grp, Campus Heymans UZ Gent,Corneel Heymanslaan 10, B-9000 Ghent, Belgium论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
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- [27] Informed Consent for Exome Sequencing Research in Families with Genetic Disease: The Emerging Issue of Incidental FindingsAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (11) : 2745 - 2752Bergner, Amanda L.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USA Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USABollinger, Juli论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Berman Inst Bioeth, Genet & Publ Policy Ctr, Washington, DC USA Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USARaraigh, Karen S.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USA Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USATichnell, Crystal论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Med, Div Cardiol, Baltimore, MD USA Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USAMurray, Brittney论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Med, Div Cardiol, Baltimore, MD USA Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USABlout, Carrie Lynn论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USA Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USATelegrafi, Aida Bytyci论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USA Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USAJames, Cynthia A.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Med, Div Cardiol, Baltimore, MD USA Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USA
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