1. A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes. Issue 5 (6th March 2019) Authors: Gallon, Richard; Mühlegger, Barbara; Wenzel, Sören‐Sebastian; Sheth, Harsh; Hayes, Christine; Aretz, Stefan; Dahan, Karin; Foulkes, William; Kratz, Christian P.; Ripperger, Tim; Azizi, Amedeo A.; Baris Feldman, Hagit; Chong, Anne‐Laure; Demirsoy, Ugur; Florkin, Benoît; Imschweiler, Thomas; Janusz... Journal: Human mutation Issue: Volume 40:Issue 5(2019) Page Start: 649 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Adenoma and colorectal cancer risks in Lynch syndrome, Lynch‐like syndrome and familial colorectal cancer type X. Issue 1 (14th September 2021) Authors: Bucksch, Karolin; Zachariae, Silke; Ahadova, Aysel; Aretz, Stefan; Büttner, Reinhard; Görgens, Heike; Holinski‐Feder, Elke; Hüneburg, Robert; Kloor, Matthias; von Knebel Doeberitz, Magnus; Ladigan‐Badura, Swetlana; Moeslein, Gabriela; Morak, Monika; Nattermann, Jacob; Nguyen, Huu Phuc; Perne, Cla... Journal: International journal of cancer Issue: Volume 150:Issue 1(2022) Page Start: 56 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Age‐dependent performance of BRAF mutation testing in Lynch syndrome diagnostics. Issue 10 (14th September 2020) Authors: Bläker, Hendrik; Haupt, Saskia; Morak, Monika; Holinski‐Feder, Elke; Arnold, Alexander; Horst, David; Sieber‐Frank, Julia; Seidler, Florian; von Winterfeld, Moritz; Alwers, Elizabeth; Chang‐Claude, Jenny; Brenner, Hermann; Roth, Wilfried; Engel, Christoph; Löffler, Markus; Möslein, Gabriela; Scha... Journal: International journal of cancer Issue: Volume 147:Issue 10(2020) Page Start: 2801 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Early detection of duodenal cancer by upper gastrointestinal‐endoscopy in Lynch syndrome. Issue 12 (7th August 2021) Authors: Vangala, Deepak B.; Ladigan‐Badura, Swetlana; Engel, Christoph; Hüneburg, Robert; Perne, Claudia; Bucksch, Karolin; Nattermann, Jacob; Steinke‐Lange, Verena; Rahner, Nils; Weitz, Jürgen; Kloor, Matthias; Tomann, Judith; Canbay, Ali; Nguyen, Huu‐Phuc; Strassburg, Christian; Möslein, Gabriele; Mora... Journal: International journal of cancer Issue: Volume 149:Issue 12(2021) Page Start: 2052 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database. (April 2023) Authors: Dominguez-Valentin, Mev; Haupt, Saskia; Seppälä, Toni T.; Sampson, Julian R.; Sunde, Lone; Bernstein, Inge; Jenkins, Mark A.; Engel, Christoph; Aretz, Stefan; Nielsen, Maartje; Capella, Gabriel; Balaguer, Francesc; Evans, Dafydd Gareth; Burn, John; Holinski-Feder, Elke; Bertario, Lucio; Bonanni, ... Journal: EClinicalMedicine Issue: Volume 58(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome. Issue 11 (2nd October 2022) Authors: Brand, Fabian; Vijayananth, Aswinkumar; Hsieh, Tzung‐Chien; Schmidt, Axel; Peters, Sophia; Mangold, Elisabeth; Cremer, Kirsten; Bender, Tim; Sivalingam, Sugirthan; Hundertmark, Hela; Knaus, Alexej; Engels, Hartmut; Krawitz, Peter M.; Perne, Claudia Other Names: Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor. Journal: Human mutation Issue: Volume 43:Issue 11(2022) Page Start: 1659 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report. (May 2021) Authors: Seppälä, Toni T.; Dominguez-Valentin, Mev; Crosbie, Emma J.; Engel, Christoph; Aretz, Stefan; Macrae, Finlay; Winship, Ingrid; Capella, Gabriel; Thomas, Huw; Hovig, Eivind; Nielsen, Maartje; Sijmons, Rolf H.; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria G.; Cavestro, Giulia M.; Mints, Mir... Journal: European journal of cancer Issue: Volume 148(2021) Page Start: 124 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Value of upper gastrointestinal endoscopy for gastric cancer surveillance in patients with Lynch syndrome. Issue 1 (13th October 2020) Authors: Ladigan‐Badura, Swetlana; Vangala, Deepak B.; Engel, Christoph; Bucksch, Karolin; Hueneburg, Robert; Perne, Claudia; Nattermann, Jacob; Steinke‐Lange, Verena; Rahner, Nils; Schackert, Hans K.; Weitz, Jürgen; Kloor, Matthias; Kuhlkamp, Judith; Nguyen, Huu Phuc; Moeslein, Gabriela; Strassburg, Chri... Journal: International journal of cancer Issue: Volume 148:Issue 1(2021) Page Start: 106 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study. Issue 7 (July 2021) Authors: Win, Aung Ko; Dowty, James G.; Reece, Jeanette C.; Lee, Grant; Templeton, Allyson S.; Plazzer, John-Paul; Buchanan, Daniel D.; Akagi, Kiwamu; Aksoy, Seçil; Alonso, Angel; Alvarez, Karin; Amor, David J.; Ankathil, Ravindran; Aretz, Stefan; Arnold, Julie L.; Aronson, Melyssa; Austin, Rachel; Backma... Journal: Lancet oncology Issue: Volume 22:Issue 7(2021) Page Start: 1014 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗