Nicoline Hoogerbrugge
AuthID: R-006-WK2
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: Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer
AUTHORS: Sao Jose, Celina; Garcia Pelaez, Jose; Ferreira, Marta; Arrieta, Oscar; Andre, Ana; Martins, Nelson; Solis, Samantha; Martinez Benitez, Braulio; Ordonez Sanchez, Maria Luisa; Rodriguez Torres, Maribel; Sommer, Anna K.; te Paske, Iris B. A. W. M.; Caldas, Carlos ; Tischkowitz, Marc; Tusie, Maria Teresa; Hoogerbrugge, Nicoline; Demidov, German; de Voer, Richarda M.; Laurie, Steve; Oliveira, Carla;
PUBLISHED: 2023, SOURCE: GASTRIC CANCER, VOLUME: 26, ISSUE: 5
AUTHORS: Sao Jose, Celina; Garcia Pelaez, Jose; Ferreira, Marta; Arrieta, Oscar; Andre, Ana; Martins, Nelson; Solis, Samantha; Martinez Benitez, Braulio; Ordonez Sanchez, Maria Luisa; Rodriguez Torres, Maribel; Sommer, Anna K.; te Paske, Iris B. A. W. M.; Caldas, Carlos ; Tischkowitz, Marc; Tusie, Maria Teresa; Hoogerbrugge, Nicoline; Demidov, German; de Voer, Richarda M.; Laurie, Steve; Oliveira, Carla;
PUBLISHED: 2023, SOURCE: GASTRIC CANCER, VOLUME: 26, ISSUE: 5
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: Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
AUTHORS: Adam Jackson; Sheng Jia Lin; Elizabeth A Jones; Kate E Chandler; David Orr; Celia Moss; Zahra Haider; Gavin Ryan; Simon Holden; Mike Harrison; Nigel Burrows; Wendy D Jones; Mary Loveless; Cassidy Petree; Helen Stewart; Karen Low; Deirdre Donnelly; Simon Lovell; Konstantina Drosou; Ambrose J.C.; ...More
PUBLISHED: 2023, SOURCE: Human Genetics and Genomics Advances, VOLUME: 4, ISSUE: 2
AUTHORS: Adam Jackson; Sheng Jia Lin; Elizabeth A Jones; Kate E Chandler; David Orr; Celia Moss; Zahra Haider; Gavin Ryan; Simon Holden; Mike Harrison; Nigel Burrows; Wendy D Jones; Mary Loveless; Cassidy Petree; Helen Stewart; Karen Low; Deirdre Donnelly; Simon Lovell; Konstantina Drosou; Ambrose J.C.; ...More
PUBLISHED: 2023, SOURCE: Human Genetics and Genomics Advances, VOLUME: 4, ISSUE: 2
5
TITLE: Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes
AUTHORS: Garcia Pelaez, J; Barbosa Matos, R; Jose, CS; Sousa, S; Gullo, I ; Hoogerbrugge, N; Carneiro, F ; Oliveira, C;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 65, ISSUE: 1
AUTHORS: Garcia Pelaez, J; Barbosa Matos, R; Jose, CS; Sousa, S; Gullo, I ; Hoogerbrugge, N; Carneiro, F ; Oliveira, C;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 65, ISSUE: 1
6
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
WOS7
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
8
TITLE: A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report
AUTHORS: te Paske, IBAW; Garcia Pelaez, J; Sommer, AK; Matalonga, L; Starzynska, T; Jakubowska, A; Valle, L; Capella, G; Aretz, S; Holinski Feder, E; Steinke Lange, V; Laner, A; Schrock, E; Rump, A; Ligtenberg, M; Hoischen, A; Geverink, N; Evans, DG; Tischkowitz, M; Laurie, S; ...More
PUBLISHED: 2021, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS
AUTHORS: te Paske, IBAW; Garcia Pelaez, J; Sommer, AK; Matalonga, L; Starzynska, T; Jakubowska, A; Valle, L; Capella, G; Aretz, S; Holinski Feder, E; Steinke Lange, V; Laner, A; Schrock, E; Rump, A; Ligtenberg, M; Hoischen, A; Geverink, N; Evans, DG; Tischkowitz, M; Laurie, S; ...More
PUBLISHED: 2021, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS
INDEXED IN: WOS
WOS9
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
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TITLE: Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes
AUTHORS: Frebourg, T; Bajalica Lagercrantz, S; Oliveira, C; Magenheim, R; Evans, DG; Hoogerbrugge, N; Ligtenberg, M; Kets, M; Oostenbrink, R; Sijmons, R; Evans, G; Woodward, E; Tischkowitz, M; Maher, E; Ferner, RE; Aretz, S; Spier, I; Steinke Lange, V; Holinski Feder, E; Schröck, E; ...More
PUBLISHED: 2020, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 28, ISSUE: 10
AUTHORS: Frebourg, T; Bajalica Lagercrantz, S; Oliveira, C; Magenheim, R; Evans, DG; Hoogerbrugge, N; Ligtenberg, M; Kets, M; Oostenbrink, R; Sijmons, R; Evans, G; Woodward, E; Tischkowitz, M; Maher, E; Ferner, RE; Aretz, S; Spier, I; Steinke Lange, V; Holinski Feder, E; Schröck, E; ...More
PUBLISHED: 2020, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 28, ISSUE: 10
INDEXED IN: 
Scopus WOS
Scopus WOS