1. Detection of APC germ line mosaicism in patients with de novo familial adenomatous polyposis: a plea for the protein truncation test. Issue 8 (7th June 2011) Authors: Necker, Judith; Kovac, Michal; Attenhofer, Michèle; Reichlin, Bruno; Heinimann, Karl Journal: Journal of medical genetics Issue: Volume 48:Issue 8(2011) Page Start: 526 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Germline RET variants underlie a subset of paediatric osteosarcoma. Issue 1 (16th March 2020) Authors: Kovac, Michal; Woolley, Connor; Ribi, Sebastian; Blattmann, Claudia; Roth, Eva; Morini, Marco; Kovacova, Monika; Ameline, Baptiste; Kulozik, Andreas; Bielack, Stefan; Hartmann, Wolfgang; Ballinger, Mandy L; Thomas, David M; Tomlinson, Ian; Nathrath, Michaela; Heinimann, Karl; Baumhoer, Daniel Journal: Journal of medical genetics Issue: Volume 58:Issue 1(2021) Page Start: 20 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. High‐Resolution Breakpoint Analysis Provides Evidence for the Sequence‐Directed Nature of Genome Rearrangements in Hereditary Disorders. Issue 2 (February 2015) Authors: Kovac, Michal B.; Kovacova, Monika; Bachraty, Hynek; Bachrata, Katarina; Piscuoglio, Salvatore; Hutter, Pierre; Ilencikova, Denisa; Bartosova, Zdena; Tomlinson, Ian; Roethlisberger, Benno; Heinimann, Karl Journal: Human mutation Issue: Volume 36:Issue 2(2015:Feb.) Page Start: 250 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Issue 6 (13th February 2013) Authors: Vasen, Hans F A; Blanco, Ignacio; Aktan-Collan, Katja; Gopie, Jessica P; Alonso, Angel; Aretz, Stefan; Bernstein, Inge; Bertario, Lucio; Burn, John; Capella, Gabriel; Colas, Chrystelle; Engel, Christoph; Frayling, Ian M; Genuardi, Maurizio; Heinimann, Karl; Hes, Frederik J; Hodgson, Shirley V; Ka... Other Names: contributor. Journal: Gut Issue: Volume 62:Issue 6(2013) Page Start: 812 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. Issue 3 (24th February 2016) Authors: Suter, Aude‐Annick; Itin, Peter; Heinimann, Karl; Ahmed, Munaza; Ashraf, Tazeen; Fryssira, Helen; Kini, Usha; Lapunzina, Pablo; Miny, Peter; Sommerlund, Mette; Suri, Mohnish; Vaeth, Signe; Vasudevan, Pradeep; Gallati, Sabina Journal: Molecular genetics & genomic medicine Issue: Volume 4:Issue 3(2016) Page Start: 359 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Somatic alterations in juvenile polyps from BMPR1A and SMAD4 mutation carriers. Issue 9 (14th July 2015) Authors: Blatter, Robert H. E.; Plasilova, Martina; Wenzel, Friedel; Gokaslan, Sefik T.; Terracciano, Luigi; Ashfaq, Raheela; Heinimann, Karl Journal: Genes, chromosomes & cancer Issue: Volume 54:Issue 9(2015:Sep.) Page Start: 575 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives. Issue 9 (15th November 2021) Authors: Salikhanov, Islam; Heinimann, Karl; Chappuis, Pierre; Buerki, Nicole; Graffeo, Rossella; Heinzelmann, Viola; Rabaglio, Manuela; Taborelli, Monica; Wieser, Simon; Katapodi, Maria C. Journal: Journal of medical genetics Issue: Volume 59:Issue 9(2022) Page Start: 924 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives. Issue 9 (15th November 2021) Authors: Salikhanov, Islam; Heinimann, Karl; Chappuis, Pierre; Buerki, Nicole; Graffeo, Rossella; Heinzelmann, Viola; Rabaglio, Manuela; Taborelli, Monica; Wieser, Simon; Katapodi, Maria C. Journal: Journal of medical genetics Issue: Volume 59:Issue 9(2022) Page Start: 924 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Transient myeloproliferative disorder in neonates without Down syndrome: case report and review. (14th June 2014) Authors: Schifferli, Alexandra; Hitzler, Johann; Bartholdi, Deborah; Heinimann, Karl; Hoeller, Sylvia; Diesch, Tamara; Kühne, Thomas Journal: European journal of haematology Issue: Volume 94:Number 5(2015:May) Page Start: 456 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗