Marc Tischkowitz
AuthID: R-00F-EC2
1
TITLE: Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes Full Text
AUTHORS: Garcia Pelaez, Jose; Barbosa Matos, Rita; Lobo, Silvana; Dias, Alexandre; Garrido, Luzia; Castedo, Sergio; Sousa, Sonia; Pinheiro, Hugo; Sousa, Liliana ; Monteiro, Rita; Maqueda, Joaquin J.; Fernandes, Susana; Carneiro, Fatima ; Pinto, Nadia ; Lemos, Carolina ; Pinto, Carla; Teixeira, Manuel R. ; Aretz, Stefan; Bajalica Lagercrantz, Svetlana; Balmana, Judith; ...More
PUBLISHED: 2023, SOURCE: LANCET ONCOLOGY, VOLUME: 24, ISSUE: 1
AUTHORS: Garcia Pelaez, Jose; Barbosa Matos, Rita; Lobo, Silvana; Dias, Alexandre; Garrido, Luzia; Castedo, Sergio; Sousa, Sonia; Pinheiro, Hugo; Sousa, Liliana ; Monteiro, Rita; Maqueda, Joaquin J.; Fernandes, Susana; Carneiro, Fatima ; Pinto, Nadia ; Lemos, Carolina ; Pinto, Carla; Teixeira, Manuel R. ; Aretz, Stefan; Bajalica Lagercrantz, Svetlana; Balmana, Judith; ...More
PUBLISHED: 2023, SOURCE: LANCET ONCOLOGY, VOLUME: 24, ISSUE: 1
2
TITLE: WHOLE-EXOME SEQUENCING RE-ANALYSIS OF FAMILIES WITH SUSPECTED GASTRIC CANCER TUMOUR RISK SYNDROMES STRENGTHENS THE ROLE OF PALB2 IN DIFFUSE GASTRIC CANCER AND LOBULAR BREAST CANCER PREDISPOSITION Full Text
AUTHORS: Garcia Pelaez, J.; Te, Paske I.; Sommer, A.; Laurie, S.; Demidov, G.; Barbosa Matos, R.; Jose, Sao C.; Ferreira, M.; Almeida, F.; Matalonga, L.; Garrido, L.; Castedo, S.; Huntsman, D.; Steinke Lange, V.; Laner, A.; Holinski Feder, E.; Aretz, S.; De Voer, R.; Tischkowitz, M.; Hoogerbrugge, N.; ...More
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Garcia Pelaez, J.; Te, Paske I.; Sommer, A.; Laurie, S.; Demidov, G.; Barbosa Matos, R.; Jose, Sao C.; Ferreira, M.; Almeida, F.; Matalonga, L.; Garrido, L.; Castedo, S.; Huntsman, D.; Steinke Lange, V.; Laner, A.; Holinski Feder, E.; Aretz, S.; De Voer, R.; Tischkowitz, M.; Hoogerbrugge, N.; ...More
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: 
WOS
WOS3
TITLE: DISRUPTION OF REGULATORY ELEMENTS IN THE CDH1 VICINITY AS A POTENTIAL HDGC CAUSE, INCREASED PENETRANCE AND EARLY ONSET CANCER Full Text
AUTHORS: Sao Jose, C.; Garcia Pelaez, J.; Andre, A.; Ferreira, M.; Tusie, M. T.; Sommer, A.; te Paske, I; Caldas, C.; Senz, J.; Tischkowitz, M.; de Voer, R. M.; Demidov, G.; Laurie, S.; Huntsman, D.; Hoogerbrugge, N.; Oliveira, C.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Sao Jose, C.; Garcia Pelaez, J.; Andre, A.; Ferreira, M.; Tusie, M. T.; Sommer, A.; te Paske, I; Caldas, C.; Senz, J.; Tischkowitz, M.; de Voer, R. M.; Demidov, G.; Laurie, S.; Huntsman, D.; Hoogerbrugge, N.; Oliveira, C.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
WOS4
TITLE: GERMLINE COPY NUMBER VARIANTS: AN UNDERREPORTED GENETIC DIAGNOSIS IN GASTROINTESTINAL TUMOUR RISK SYNDROME SUSPECTED INDIVIDUALS Full Text
AUTHORS: Garcia Pelaez, Jose; Laurie, Steve; Demidov, German; Paramonov, Ida; Sommer, Anna K.; te Paske, Iris B. A. W.; Huntsman, David; Holinski Feder, Elke; Tischkowitz, Marc; Aretz, Stefan; Hoogerbrugge, Nicoline; de Voer, Richarda M.; Oliveira, Carla;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Garcia Pelaez, Jose; Laurie, Steve; Demidov, German; Paramonov, Ida; Sommer, Anna K.; te Paske, Iris B. A. W.; Huntsman, David; Holinski Feder, Elke; Tischkowitz, Marc; Aretz, Stefan; Hoogerbrugge, Nicoline; de Voer, Richarda M.; Oliveira, Carla;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS5
TITLE: International Delphi consensus guidelines for follow-up after prophylactic total gastrectomy: the Life after Prophylactic Total Gastrectomy (LAP-TG) study Full Text
AUTHORS: Geoffrey Roberts; Patrick R Benusiglio; Tanya Bisseling; Daniel Coit; Jeremy L Davis; Sam Grimes; Theresa A Guise; Richard Hardwick; Kirsty Harris; Paul Furman Mansfield; Jeremy Rossaak; Karen Chelcun Schreiber; Peter P Stanich; Vivian E Strong; Pardeep Kaurah; Julie Angel; Banu Arun; Manuela Baptista; Grant Beban; Ernst Jan Spillenaar Bilgen; ...More
PUBLISHED: 2022, SOURCE: Gastric Cancer, VOLUME: 25, ISSUE: 6
AUTHORS: Geoffrey Roberts; Patrick R Benusiglio; Tanya Bisseling; Daniel Coit; Jeremy L Davis; Sam Grimes; Theresa A Guise; Richard Hardwick; Kirsty Harris; Paul Furman Mansfield; Jeremy Rossaak; Karen Chelcun Schreiber; Peter P Stanich; Vivian E Strong; Pardeep Kaurah; Julie Angel; Banu Arun; Manuela Baptista; Grant Beban; Ernst Jan Spillenaar Bilgen; ...More
PUBLISHED: 2022, SOURCE: Gastric Cancer, VOLUME: 25, ISSUE: 6
6
TITLE: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data Full Text
AUTHORS: Leslie Matalonga; Carles Hernández Ferrer; Davide Piscia; Enzo Cohen; Enzo Cohen; Isabel Cuesta; Daniel Danis; Anne Sophie Denommé Pichon; Anne Sophie Denommé Pichon; Yannis Duffourd; Christian Gilissen; Mridul Johari; Steven Laurie; Shuang Li; Leslie Matalonga; Isabelle Nelson; Sophia Peters; Ida Paramonov; Sivakumar Prasanth; Peter Robinson; ...More
PUBLISHED: 2021, SOURCE: European Journal of Human Genetics, VOLUME: 29, ISSUE: 9
AUTHORS: Leslie Matalonga; Carles Hernández Ferrer; Davide Piscia; Enzo Cohen; Enzo Cohen; Isabel Cuesta; Daniel Danis; Anne Sophie Denommé Pichon; Anne Sophie Denommé Pichon; Yannis Duffourd; Christian Gilissen; Mridul Johari; Steven Laurie; Shuang Li; Leslie Matalonga; Isabelle Nelson; Sophia Peters; Ida Paramonov; Sivakumar Prasanth; Peter Robinson; ...More
PUBLISHED: 2021, SOURCE: European Journal of Human Genetics, VOLUME: 29, ISSUE: 9
7
TITLE: Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer
AUTHORS: Taru A Muranen; Sofia Khan; Rainer Fagerholm; Kristiina Aittomaeki; Julie M Cunningham; Joe Dennis; Goska Leslie; Lesley McGuffog; Michael T Parsons; Jacques Simard; Susan Slager; Penny Soucy; Douglas F Easton; Marc Tischkowitz; Amanda B Spurdle; Rita K Schmutzler; Barbara Wappenschmidt; Eric Hahnen; Maartje J Hooning; Christian F Singer; ...More
PUBLISHED: 2020, SOURCE: NPJ BREAST CANCER, VOLUME: 6, ISSUE: 1
AUTHORS: Taru A Muranen; Sofia Khan; Rainer Fagerholm; Kristiina Aittomaeki; Julie M Cunningham; Joe Dennis; Goska Leslie; Lesley McGuffog; Michael T Parsons; Jacques Simard; Susan Slager; Penny Soucy; Douglas F Easton; Marc Tischkowitz; Amanda B Spurdle; Rita K Schmutzler; Barbara Wappenschmidt; Eric Hahnen; Maartje J Hooning; Christian F Singer; ...More
PUBLISHED: 2020, SOURCE: NPJ BREAST CANCER, VOLUME: 6, ISSUE: 1
8
TITLE: Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes Full Text
AUTHORS: Janet R Vos; Lisette Giepmans; Claas Roehl; Nicoline Geverink; Nicoline Hoogerbrugge; Marjolijn Ligtenberg; Marleen Kets; Rolf Sijmons; Gareth Evans; Emma Woodward; Marc Tischkowitz; Eamonn Maher; Verena Steinke Lange; Elke Holinski Feder; Thierry Frebourg; Claude Houdayer; Rosalie E Ferner; Jan Lubinski; Karolina Ertmanska; Svetlana B Bajalica Lagercrantz; ...More
PUBLISHED: 2019, SOURCE: FAMILIAL CANCER, VOLUME: 18, ISSUE: 2
AUTHORS: Janet R Vos; Lisette Giepmans; Claas Roehl; Nicoline Geverink; Nicoline Hoogerbrugge; Marjolijn Ligtenberg; Marleen Kets; Rolf Sijmons; Gareth Evans; Emma Woodward; Marc Tischkowitz; Eamonn Maher; Verena Steinke Lange; Elke Holinski Feder; Thierry Frebourg; Claude Houdayer; Rosalie E Ferner; Jan Lubinski; Karolina Ertmanska; Svetlana B Bajalica Lagercrantz; ...More
PUBLISHED: 2019, SOURCE: FAMILIAL CANCER, VOLUME: 18, ISSUE: 2
9
TITLE: Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study
AUTHORS: Eleanor Fewings; Alexey Larionov; James Redman; Mae A Goldgraben; James Scarth; Susan Richardson; Carole Brewer; Rosemarie Davidson; Ian Ellis; Gareth G Evans; Dorothy Halliday; Louise Izatt; Peter Marks; Vivienne McConnell; Louis Verbist; Rebecca Mayes; Graeme R Clark; James Hadfield; Suet Feung Chin; Manuel R Teixeira ; ...More
PUBLISHED: 2018, SOURCE: LANCET GASTROENTEROLOGY & HEPATOLOGY, VOLUME: 3, ISSUE: 7
AUTHORS: Eleanor Fewings; Alexey Larionov; James Redman; Mae A Goldgraben; James Scarth; Susan Richardson; Carole Brewer; Rosemarie Davidson; Ian Ellis; Gareth G Evans; Dorothy Halliday; Louise Izatt; Peter Marks; Vivienne McConnell; Louis Verbist; Rebecca Mayes; Graeme R Clark; James Hadfield; Suet Feung Chin; Manuel R Teixeira ; ...More
PUBLISHED: 2018, SOURCE: LANCET GASTROENTEROLOGY & HEPATOLOGY, VOLUME: 3, ISSUE: 7
10
TITLE: Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada Full Text
AUTHORS: Taila Hartley; Luca Cavallone; Nelly Sabbaghian; Rachel Silva Smith; Nancy Hamel; Olga Aleynikova; Erika Smith; Valerie Hastings; Pedro Pinto; Marc Tischkowitz; Eva Tomiak; William D Foulkes;
PUBLISHED: 2014, SOURCE: HEREDITARY CANCER IN CLINICAL PRACTICE, VOLUME: 12, ISSUE: 1
AUTHORS: Taila Hartley; Luca Cavallone; Nelly Sabbaghian; Rachel Silva Smith; Nancy Hamel; Olga Aleynikova; Erika Smith; Valerie Hastings; Pedro Pinto; Marc Tischkowitz; Eva Tomiak; William D Foulkes;
PUBLISHED: 2014, SOURCE: HEREDITARY CANCER IN CLINICAL PRACTICE, VOLUME: 12, ISSUE: 1
