Toward a Molecular Classification of Colorectal Cancer: The Role of Microsatellite Instability Status

por Heinimann, Karl
Publicado 2013

Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies

por Filges, Isabel, Kang, Anjeung, Klug, Vanessa, Wenzel, Friedel, Heinimann, Karl, Tercanli, Sevgi, Miny, Peter
Publicado 2012

Multiple primary tumours: challenges and approaches, a review

por Vogt, Alexia, Schmid, Sabine, Heinimann, Karl, Frick, Harald, Herrmann, Christian, Cerny, Thomas, Omlin, Aurelius
Publicado 2017

Discordant Gene Expression Signatures and Related Phenotypic Differences in Lamin A- and A/C-Related Hutchinson-Gilford Progeria Syndrome (HGPS)

por Plasilova, Martina, Chattopadhyay, Chandon, Ghosh, Apurba, Wenzel, Friedel, Demougin, Philippe, Noppen, Christoph, Schaub, Nathalie, Szinnai, Gabor, Terracciano, Luigi, Heinimann, Karl
Publicado 2011

Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives

por Salikhanov, Islam, Heinimann, Karl, Chappuis, Pierre, Buerki, Nicole, Graffeo, Rossella, Heinzelmann, Viola, Rabaglio, Manuela, Taborelli, Monica, Wieser, Simon, Katapodi, Maria C.
Publicado 2022

Improved Multiplex Ligation-Dependent Probe Amplification Analysis Identifies a Deleterious PMS2 Allele Generated by Recombination with Crossover Between PMS2 and PMS2CL

por Wernstedt, Annekatrin, Valtorta, Emanuele, Armelao, Franco, Togni, Roberto, Girlando, Salvatore, Baudis, Michael, Heinimann, Karl, Messiaen, Ludwine, Staehli, Noemie, Zschocke, Johannes, Marra, Giancarlo, Wimmer, Katharina
Publicado 2012

Convergent Evolution of Copy Number Alterations in Multi-Centric Hepatocellular Carcinoma

por Lackner, Carolin, Quagliata, Luca, Cross, William, Ribi, Sebastian, Heinimann, Karl, Paradiso, Viola, Quintavalle, Cristina, Kovacova, Monika, Baumhoer, Daniel, Piscuoglio, Salvatore, Terracciano, Luigi, Kovac, Michal
Publicado 2019

Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation

por Pinheiro, Manuela, Pinto, Carla, Peixoto, Ana, Veiga, Isabel, Lopes, Paula, Henrique, Rui, Baldaia, Helena, Carneiro, Fátima, Seruca, Raquel, Tomlinson, Ian, Kovac, Michal, Heinimann, Karl, Teixeira, Manuel R
Publicado 2015

Exome sequencing of fetal anomaly syndromes: novel phenotype–genotype discoveries

por Meier, Nicole, Bruder, Elisabeth, Lapaire, Olav, Hoesli, Irene, Kang, Anjeung, Hench, Jürgen, Hoeller, Sylvia, De Geyter, Julie, Miny, Peter, Heinimann, Karl, Chaoui, Rabih, Tercanli, Sevgi, Filges, Isabel
Publicado 2019

Hereditary mixed polyposis syndrome is caused by a 40kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1

por Jaeger, Emma, Leedham, Simon, Lewis, Annabelle, Segditsas, Stefania, Becker, Martin, Cuadrado, Pedro Rodenas, Davis, Hayley, Kaur, Kulvinder, Heinimann, Karl, Howarth, Kimberley, East, James, Taylor, Jenny, Thomas, Huw, Tomlinson, Ian
Publicado 2012

Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene

por 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
Publicado 2016

Relatives from Hereditary Breast and Ovarian Cancer and Lynch Syndrome Families Forgoing Genetic Testing: Findings from the Swiss CASCADE Cohort

por Sarki, Mahesh, Ming, Chang, Aceti, Monica, Fink, Günther, Aissaoui, Souria, Bürki, Nicole, Graffeo, Rossella, Heinimann, Karl, Caiata Zufferey, Maria, Monnerat, Christian, Rabaglio, Manuela, Zürrer-Härdi, Ursina, Chappuis, Pierre O., Katapodi, Maria C.
Publicado 2022

Genetic Literacy and Communication of Genetic Information in Families Concerned with Hereditary Breast and Ovarian Cancer: A Cross-Study Comparison in Two Countries and within a Ti...

por Pedrazzani, Carla, Ming, Chang, Bürki, Nicole, Caiata-Zufferey, Maria, Chappuis, Pierre O., Duquette, Debra, Heinimann, Karl, Heinzelmann-Schwarz, Viola, Graffeo-Galbiati, Rossella, Merajver, Sofia D., Milliron, Kara J., Monnerat, Christian, Pagani, Olivia, Rabaglio, Manuela, Katapodi, Maria C.
Publicado 2021

Intention to Inform Relatives, Rates of Cascade Testing, and Preference for Patient-Mediated Communication in Families Concerned with Hereditary Breast and Ovarian Cancer and Lynch...

por Sarki, Mahesh, Ming, Chang, Aissaoui, Souria, Bürki, Nicole, Caiata-Zufferey, Maria, Erlanger, Tobias Ephraim, Graffeo-Galbiati, Rossella, Heinimann, Karl, Heinzelmann-Schwarz, Viola, Monnerat, Christian, Probst-Hensch, Nicole, Rabaglio, Manuela, Zürrer-Härdi, Ursina, Chappuis, Pierre Olivier, Katapodi, Maria C.
Publicado 2022

Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

por Sherwood, Kitty, Ward, Joseph C., Soriano, Ignacio, Martin, Lynn, Campbell, Archie, Rahbari, Raheleh, Kafetzopoulos, Ioannis, Sproul, Duncan, Green, Andrew, Sampson, Julian R., Donaldson, Alan, Ong, Kai-Ren, Heinimann, Karl, Nielsen, Maartje, Thomas, Huw, Latchford, Andrew, Palles, Claire, Tomlinson, Ian
Publicado 2023

Author Correction: Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

por Sherwood, Kitty, Ward, Joseph C., Soriano, Ignacio, Martin, Lynn, Campbell, Archie, Rahbari, Raheleh, Kafetzopoulos, Ioannis, Sproul, Duncan, Green, Andrew, Sampson, Julian R., Donaldson, Alan, Ong, Kai-Ren, Heinimann, Karl, Nielsen, Maartje, Thomas, Huw, Latchford, Andrew, Palles, Claire, Tomlinson, Ian
Publicado 2023

Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A p...

por Blatter, Robert, Tschupp, Benjamin, Aretz, Stefan, Bernstein, Inge, Colas, Chrystelle, Evans, D. Gareth, Genuardi, Maurizio, Hes, Frederik J., Hüneburg, Robert, Järvinen, Heikki, Lalloo, Fiona, Moeslein, Gabriela, Renkonen-Sinisalo, Laura, Resta, Nicoletta, Spier, Isabel, Varvara, Dora, Vasen, Hans, Latchford, Andrew R., Heinimann, Karl
Publicado 2020

Cancer Predisposition Cascade Screening for Hereditary Breast/Ovarian Cancer and Lynch Syndromes in Switzerland: Study Protocol

por Katapodi, Maria C, Viassolo, Valeria, Caiata-Zufferey, Maria, Nikolaidis, Christos, Bührer-Landolt, Rosmarie, Buerki, Nicole, Graffeo, Rossella, Horváth, Henrik Csaba, Kurzeder, Christian, Rabaglio, Manuela, Scharfe, Michael, Urech, Corinne, Erlanger, Tobias E, Probst-Hensch, Nicole, Heinimann, Karl, Heinzelmann-Schwarz, Viola, Pagani, Olivia, Chappuis, Pierre O
Publicado 2017

Acceptability and Usability of the Family Gene Toolkit for Swiss and Korean Families Harboring BRCA1/BRAC2 Pathogenic Variants: A Web-Based Platform for Cascade Genetic Testing

por Baroutsou, Vasiliki, Duong, Vu, Signorini, Alice, Saccilotto, Ramon, Ciorba, Florina M., Bürki, Nicole, Caiata-Zufferey, Maria, Ryu, Jai Min, Kim, Sung-Won, Lim, Myong Cheol, Monnerat, Christian, Zürrer-Härdi, Ursina, Kim, Jisun, Heinimann, Karl, Graffeo, Rossella, Park, Ji Soo, Rabaglio, Manuela, Chappuis, Pierre Olivier, Kim, Sue, Katapodi, Maria C.
Publicado 2023

Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency

por Kovac, Michal, Blattmann, Claudia, Ribi, Sebastian, Smida, Jan, Mueller, Nikola S., Engert, Florian, Castro-Giner, Francesc, Weischenfeldt, Joachim, Kovacova, Monika, Krieg, Andreas, Andreou, Dimosthenis, Tunn, Per-Ulf, Dürr, Hans Roland, Rechl, Hans, Schaser, Klaus-Dieter, Melcher, Ingo, Burdach, Stefan, Kulozik, Andreas, Specht, Katja, Heinimann, Karl, Fulda, Simone, Bielack, Stefan, Jundt, Gernot, Tomlinson, Ian, Korbel, Jan O., Nathrath, Michaela, Baumhoer, Daniel
Publicado 2015