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  1. 1

    Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome

    Artigo | por Dueñas, Nuria; Klinkhammer, Hannah; Bonifaci Cano, Núria; Spier, Isabel; Mayr, Andreas; Hassanin, Emadeldin; Díez Villanueva, Anna; Moreno Aguado, Víctor; Pineda, Marta; Maj, Carlo; Capellà, Gabriel; Aretz, Stefan; Brunet, Joan | Publicado em 2023 |
    Outros Autores: “…Spier, Isabel…”
  2. 2

    Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome

    Artigo | por Dueñas, Nuria; Klinkhammer, Hannah; Bonifaci Cano, Núria; Spier, Isabel; Mayr, Andreas; Hassanin, Emadeldin; Díez Villanueva, Anna; Moreno Aguado, Víctor; Pineda, Marta; Maj, Carlo; Capellà, Gabriel; Aretz, Stefan; Brunet, Joan | Publicado em 2023 |
    Outros Autores: “…Spier, Isabel…”
  3. 3

    Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence

    Artigo | por Hassanin, Emadeldin; Spier, Isabel; Bobbili, Dheeraj R.; Aldisi, Rana; Klinkhammer, Hannah; David, Friederike; Dueñas, Nuria; Hüneburg, Robert; Perne, Claudia; Brunet, Joan; Capella, Gabriel; Nöthen, Markus M.; Forstner, Andreas J.; Mayr, Andreas; Krawitz, Peter; May, Patrick; Aretz, Stefan; Maj, Carlo | Publicado em 2023 |
    Outros Autores: “…Spier, Isabel…”
  4. 4

    Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence

    Artigo | por Hassanin, Emadeldin; Spier, Isabel; Bobbili, Dheeraj R.; Aldisi, Rana; Klinkhammer, Hannah; David, Friederike; Dueñas, Nuria; Hüneburg, Robert; Perne, Claudia; Brunet, Joan; Capella, Gabriel; Nöthen, Markus M.; Forstner, Andreas J.; Mayr, Andreas; Krawitz, Peter; May, Patrick; Aretz, Stefan; Maj, Carlo | Publicado em 2023 |
    Outros Autores: “…Spier, Isabel…”
  5. 5

    Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Pa...

    Artigo | por Spier, Isabel; Yin, Xiaoyu; Richardson, Marcy; Pineda, Marta; Laner, Andreas; Ritter, Deborah; Boyle, Julie; Mur, Pilar; Hansen, Thomas V O.; Shi, Xuemei; Mahmood, Khalid; Plazzer, John-Paul; Ognedal, Elisabet; Nordling, Margareta; Farrington, Susan M.; Yamamoto, Gou; Baert-Desurmont, Stéphanie; Martins, Alexandra; Borras, Ester; Tops, Carli M.; Webb, Erica; Beshay, Victoria; Genuardi, Maurizio; Pesaran, Tina; Capellá, Gabriel; Tavtigian, Sean V.; Latchford, Andrew; Frayling, Ian M.; Plon, Sharon E.; Greenblatt, Marc; Macrae, Finlay A.; Aretz, Stefan | Publicado em 2024 |
  6. 6

    Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Pa...

    Artigo | por Spier, Isabel; Yin, Xiaoyu; Richardson, Marcy; Pineda, Marta; Laner, Andreas; Ritter, Deborah; Boyle, Julie; Mur, Pilar; Hansen, Thomas V O.; Shi, Xuemei; Mahmood, Khalid; Plazzer, John-Paul; Ognedal, Elisabet; Nordling, Margareta; Farrington, Susan M.; Yamamoto, Gou; Baert-Desurmont, Stéphanie; Martins, Alexandra; Borras, Ester; Tops, Carli M.; Webb, Erica; Beshay, Victoria; Genuardi, Maurizio; Pesaran, Tina; Capellá, Gabriel; Tavtigian, Sean V.; Latchford, Andrew; Frayling, Ian M.; Plon, Sharon E.; Greenblatt, Marc; Macrae, Finlay A.; Aretz, Stefan | Publicado em 2024 |
  7. 7

    Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD

    Artigo | por Sommer, Anna K.; Te Paske, Iris B.A.W.; Garcia-Pelaez, José; Laner, Andreas; Holinski-Feder, Elke; Steinke-Lange, Verena; Peters, Sophia; Valle, Laura; Spier, Isabel; Huntsman, David; Solve-RD-GENTURIS group; Oliveira, Carla; de Voer, Richarda M.; Hoogerbrugge, Nicoline; Aretz, Stefan | Publicado em 2022 |
    Outros Autores: “…Spier, Isabel…”
  8. 8

    Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS

    Artigo | por Yin, Xiaoyu; Richardson, Marcy; Laner, Andreas; Shi, Xuemei; Ognedal, Elisabet; Vasta, Valeria; Hansen, Thomas V.o.; Pineda, Marta; Ritter, Deborah; De Dunnen, Johan; Hassanin, Emadeldin; Lin, Wencong Lyman; Borras, Ester; Krahn, Karl; Nordling, Margareta; Martins, Alexandra; Mahmood, Khalid; Nadeau, Emily; Beshay, Victoria; Tops, Carli M.; Genuardi, Maurizio; Pesaran, Tina; Frayling, Ian M.; Capellá, Gabriel; Latchford, Andrew; Tavtigian, Sean V.; Maj, Carlo; Plon, Sharon E.; Greenblatt, Marc S.; Macrae, Finlay A.; Spier, Isabel; Aretz, Stefan | Publicado em 2024 |
    Outros Autores: “…Spier, Isabel…”
  9. 9

    mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion

    Artigo | por Taylor, Henry; Yerlioglu, Dilay; Phen, Claudia; Ballauff, Antje; Nedelkopoulou, Natalia; Spier, Isabel; Loverdos, Inés|||0000-0002-5496-8717; Busoni, Veronica B.; Heise, Jürgen; Dale, Peter; de Meij, Tim; Sweet, Kevin; Cohen, Marta C.; Fox, Victor L.; Mas, Emmanuel; Aretz, Stefan|||0000-0002-5228-1890; Eng, Charis; Buderus, Stephan; Thomson, Mike; Rojas, Isabel; Uhlig, Holm H. | Publicado em 2021 |
    Outros Autores: “…Spier, Isabel…”
  10. 10

    Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS

    Artigo | por Yin, Xiaoyu; Richardson, Marcy; Laner, Andreas; Shi, Xuemei; Ognedal, Elisabet; Vasta, Valeria; Hansen, Thomas V.o.; Pineda, Marta; Ritter, Deborah; De Dunnen, Johan; Hassanin, Emadeldin; Lin, Wencong Lyman; Borras, Ester; Krahn, Karl; Nordling, Margareta; Martins, Alexandra; Mahmood, Khalid; Nadeau, Emily; Beshay, Victoria; Tops, Carli M.; Genuardi, Maurizio; Pesaran, Tina; Frayling, Ian M.; Capellá, Gabriel; Latchford, Andrew; Tavtigian, Sean V.; Maj, Carlo; Plon, Sharon E.; Greenblatt, Marc S.; Macrae, Finlay A.; Spier, Isabel; Aretz, Stefan | Publicado em 2024 |
    Outros Autores: “…Spier, Isabel…”

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