The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016–2021

por Roht, Laura, Tooming, Mikk, Rekker, Kadri, Roomere, Hanno, Toome, Kadri, Murumets, Ülle, Šamarina, Ustina, Õunap, Katrin, Kahre, Tiina
Publicado 2022

AXIN2‐related oligodontia‐colorectal cancer syndrome with cleft palate as a possible new feature

por Roht, Laura, Hyldebrandt, Hanne K., Stormorken, Astrid T., Nordgarden, Hilde, Sijmons, Rolf H., Bos, Dennis K., Riegert‐Johnson, Douglas, Mantia‐Macklin, Sarah, Ilves, Pilvi, Muru, Kai, Wojcik, Monica H., Kahre, Tiina, Õunap, Katrin
Publicado 2023

The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population

por Roht, Laura, Laidre, Piret, Tooming, Mikk, Tõnisson, Neeme, Nõukas, Margit, Nurm, Miriam, Roomere, Hanno, Rekker, Kadri, Toome, Kadri, Fjodorova, Olga, Murumets, Ülle, Šamarina, Ustina, Pajusalu, Sander, Aaspõllu, Anu, Salumäe, Liis, Muhu, Kristina, Soplepmann, Jaan, Õunap, Katrin, Kahre, Tiina
Publicado 2023

Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting

por Jürgens, Hannes, Roht, Laura, Leitsalu, Liis, Nõukas, Margit, Palover, Marili, Nikopensius, Tiit, Reigo, Anu, Kals, Mart, Kallak, Kersti, Kütner, Riina, Budrikas, Kai, Kuusk, Saskia, Valvere, Vahur, Laidre, Piret, Toome, Kadri, Rekker, Kadri, Tooming, Mikk, Ülle Murumets, Kahre, Tiina, Kruuv-Käo, Krista, Õunap, Katrin, Padrik, Peeter, Metspalu, Andres, Esko, Tõnu, Fischer, Krista, Tõnisson, Neeme
Publicado 2022

De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder

por Janssen, Beau D. E., van den Boogaard, Marie‐Jose H., Lichtenbelt, Klaske, Seaby, Eleanor G., Stals, Karen, Ellard, Sian, Newbury‐Ecob, Ruth, Dixit, Abhijit, Roht, Laura, Pajusalu, Sander, Õunap, Katrin, Firth, Helen V., Buckley, Michael, Wilson, Meredith, Roscioli, Tony, Tidwell, Timothy, Mao, Rong, Ennis, Sarah, Holwerda, Sjoerd J., van Gassen, Koen, van Jaarsveld, Richard H.
Publicado 2022

Natural history of KBG syndrome in a large European cohort

por Loberti, Lorenzo, Bruno, Lucia Pia, Granata, Stefania, Doddato, Gabriella, Resciniti, Sara, Fava, Francesca, Carullo, Michele, Rahikkala, Elisa, Jouret, Guillaume, Menke, Leonie A, Lederer, Damien, Vrielynck, Pascal, Ryba, Lukáš, Brunetti-Pierri, Nicola, Lasa-Aranzasti, Amaia, Cueto-González, Anna Maria, Trujillano, Laura, Valenzuela, Irene, Tizzano, Eduardo F, Spinelli, Alessandro Mauro, Bruno, Irene, Currò, Aurora, Stanzial, Franco, Benedicenti, Francesco, Lopergolo, Diego, Santorelli, Filippo Maria, Aristidou, Constantia, Tanteles, George A, Maystadt, Isabelle, Tkemaladze, Tinatin, Reimand, Tiia, Lokke, Helen, Õunap, Katrin, Haanpää, Maria K, Holubová, Andrea, Zoubková, Veronika, Schwarz, Martin, Žordania, Riina, Muru, Kai, Roht, Laura, Tihveräinen, Annika, Teek, Rita, Thomson, Ulvi, Atallah, Isis, Superti-Furga, Andrea, Buoni, Sabrina, Canitano, Roberto, Scandurra, Valeria, Rossetti, Annalisa, Grosso, Salvatore, Battini, Roberta, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Bruttini, Mirella, Mari, Francesca, Ariani, Francesca, Renieri, Alessandra, Pinto, Anna Maria
Publicado 2022