Browsing by Author Tops, Carli M.
Showing results 1 to 4 of 4
| Issue Date | Title | Author(s) |
|---|---|---|
| 20-Dec-2013 | Application of a 5-tiered scheme for standardized classification of 2,360 Unique mismatch repair gene variants in the InSiGHT locus-specific database | Thompson, Bryony A.; Spurdle, Amanda B.; Plazzer, John-Paul; Greenblatt, Marc S.; Akagi, Kiwamu; Al-Mulla, Fahd; Bapat, Bharati; Bernstein, Inge; Capellá, G. (Gabriel); Dunnen, Johan T. den; Sart, Desiree du; Fabre, Aurelie; Farrell, Michael P.; Farrington, Susan M.; Frayling, Ian M.; Frebourg, Thierry; Goldgar, David E.; Heinen, Christopher D.; Holinski-Feder, Elke; Kohonen-Corish, Maija; Lagerstedt Robinson, Kristina; Leung, Suet Yi; Martins, Alexandra; Møller, Pål; Morak, Monika; Nystrom, Minna; Peltomäki, Päivi; Pineda Riu, Marta; Qi, Ming; Ramesar, Rajkumar; Rasmussen, Lene Juel; Royer-Pokora, Brigitte; Scott, Rodney J.; Sijmons, Rolf; Tavtigian, Sean V.; Tops, Carli M.; Weber, Thomas; Wijnen, Juul; Woods, Michael O.; Macrae, Finlay; Genuardi, Maurizio; InSiGHT |
| 18-Jul-2025 | Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9 | Helderman, Noah C.; Yang, Ting; Palles, Claire; Terlouw, Diantha; Mei, Hailiang; Vorderman, Ruben H.P.; Cats, Davy; Díaz Gay, Marcos; Jongmans, Marjolijn C.J.; Ramdien, Ashwin; Beek, Irma van de; Eleveld, Thomas F.; Green, Andrew; Hes, Frederik J.; Heuvel Eibrink, Marry M. van den; Kelen, Annelore van der; Kliesch, Sabine; Kuiper, Roland P.; Lakeman, Inge M. M.; Lashley, Lisa E. E. L. O.; Looijenga, Leendert H. J.; Oud, Manon S.; Steingröver, Johanna; Tenenbaum Rakover, Yardena; Tops, Carli M.; Tüttelmann, Frank; Voer, Richarda M. de; Westra, Dineke; J Wyrwoll, Margot; Golubicki, Mariano; Antelo, Marina; Bonjoch, Laia; Terradas, Mariona; Valle, Laura; Alexandrov, Ludmil B.; Morreau, Hans; Van Wezel, Tom; Castellví Bel, Sergi; Goldberg, Yael; Nielsen, Maartje |
| 1-Feb-2024 | Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel | 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 |
| 1-Nov-2024 | Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS | 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 |