Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

por Knies, Kerstin, Schuster, Beatrice, Ameziane, Najim, Rooimans, Martin, Bettecken, Thomas, de Winter, Johan, Schindler, Detlev
Publicado 2012

Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome

por van der Lelij, Petra, Oostra, Anneke B., Rooimans, Martin A., Joenje, Hans, de Winter, Johan P.
Publicado 2010

MMS22L-TONSL functions in sister chromatid cohesion in a pathway parallel to DSCC1-RFC

por van Schie, Janne JM, de Lint, Klaas, Pai, Govind M, Rooimans, Martin A, Wolthuis, Rob MF, de Lange, Job
Publicado 2022

Non-redundant roles in sister chromatid cohesion of the DNA helicase DDX11 and the SMC3 acetyl transferases ESCO1 and ESCO2

por Faramarz, Atiq, Balk, Jesper A., van Schie, Janne J. M., Oostra, Anneke B., Ghandour, Cherien A., Rooimans, Martin A., Wolthuis, Rob M. F., de Lange, Job
Publicado 2020

Coregulation of FANCA and BRCA1 in human cells

por Haitjema, Anneke, Mol, Berber M, Kooi, Irsan E, Massink, Maarten PG, Jørgensen, Jens AL, Rockx, Davy AP, Rooimans, Martin A, de Winter, Johan P, Meijers-Heijboer, Hanne, Joenje, Hans, Dorsman, Josephine C
Publicado 2014

Targeting the cell cycle in head and neck cancer by Chk1 inhibition: a novel concept of bimodal cell death

por van Harten, Anne M., Buijze, Marijke, van der Mast, Richard, Rooimans, Martin A., Martens-de Kemp, Sanne R., Bachas, Costa, Brink, Arjen, Stigter-van Walsum, Marijke, Wolthuis, Rob M. F., Brakenhoff, Ruud H.
Publicado 2019

BIRC2–BIRC3 amplification: a potentially druggable feature of a subset of head and neck cancers in patients with Fanconi anemia

por Roohollahi, Khashayar, de Jong, Yvonne, Pai, Govind, Zaini, Mohamad Amr, de Lint, Klaas, Sie, Daoud, Rooimans, Martin A., Rockx, Davy, Hoskins, Elizabeth E., Ameziane, Najim, Wolthuis, Rob, Joenje, Hans, Wells, Susanne I., Dorsman, Josephine
Publicado 2022

Publisher Correction: BIRC2–BIRC3 amplification: a potentially druggable feature of a subset of head and neck cancers in patients with Fanconi anemia

por Roohollahi, Khashayar, de Jong, Yvonne, Pai, Govind, Zaini, Mohamad Amr, de Lint, Klaas, Sie, Daoud, Rooimans, Martin A., Rockx, Davy, Hoskins, Elizabeth E., Ameziane, Najim, Wolthuis, Rob, Joenje, Hans, Wells, Susanne I., Dorsman, Josephine
Publicado 2022

Defective sister chromatid cohesion is synthetically lethal with impaired APC/C function

por de Lange, Job, Faramarz, Atiq, Oostra, Anneke B., de Menezes, Renee X., van der Meulen, Ida H., Rooimans, Martin A., Rockx, Davy A., Brakenhoff, Ruud H., van Beusechem, Victor W., King, Randall W., de Winter, Johan P., Wolthuis, Rob M. F.
Publicado 2015

Identification of the Fanconi Anemia Complementation Group I Gene, FANCI

por Dorsman, Josephine C., Levitus, Marieke, Rockx, Davy, Rooimans, Martin A., Oostra, Anneke B., Haitjema, Anneke, Bakker, Sietske T., Steltenpool, Jûrgen, Schuler, Dezsö, Mohan, Sheila, Schindler, Detlev, Arwert, Fré, Pals, Gerard, Mathew, Christopher G., Waisfisz, Quinten, de Winter, Johan P., Joenje, Hans
Publicado 2007

Genome-wide siRNA screens identify RBBP9 function as a potential target in Fanconi anaemia-deficient head-and-neck squamous cell carcinoma

por Pai, Govind, Roohollahi, Khashayar, Rockx, Davy, de Jong, Yvonne, Stoepker, Chantal, Pennings, Charlotte, Rooimans, Martin, Vriend, Lianne, Piersma, Sander, Jimenez, Connie R., De Menezes, Renee X., Van Beusechem, Victor W., Brakenhoff, Ruud H., Te Riele, Hein, Wolthuis, Rob M. F., Dorsman, Josephine C.
Publicado 2023

CRISPR screens in sister chromatid cohesion defective cells reveal PAXIP1-PAGR1 as regulator of chromatin association of cohesin

por van Schie, Janne J M, de Lint, Klaas, Molenaar, Thom M, Moronta Gines, Macarena, Balk, Jesper A, Rooimans, Martin A, Roohollahi, Khashayar, Pai, Govind M, Borghuis, Lauri, Ramadhin, Anisha R, Corazza, Francesco, Dorsman, Josephine C, Wendt, Kerstin S, Wolthuis, Rob M F, de Lange, Job
Publicado 2023

Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation

por Carvalhal, Sara, Bader, Ingrid, Rooimans, Martin A., Oostra, Anneke B., Balk, Jesper A., Feichtinger, René G., Beichler, Christine, Speicher, Michael R., van Hagen, Johanna M., Waisfisz, Quinten, van Haelst, Mieke, Bruijn, Martijn, Tavares, Alexandra, Mayr, Johannes A., Wolthuis, Rob M. F., Oliveira, Raquel A., de Lange, Job
Publicado 2022

ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients

por Apelt, Katja, White, Susan M., Kim, Hyun Suk, Yeo, Jung-Eun, Kragten, Angela, Wondergem, Annelotte P., Rooimans, Martin A., González-Prieto, Román, Wiegant, Wouter W., Lunke, Sebastian, Flanagan, Daniel, Pantaleo, Sarah, Quinlan, Catherine, Hardikar, Winita, van Attikum, Haico, Vertegaal, Alfred C.O., Wilson, Brian T., Wolthuis, Rob M.F., Schärer, Orlando D., Luijsterburg, Martijn S.
Publicado 2020

Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion

por van Schie, Janne J. M., Faramarz, Atiq, Balk, Jesper A., Stewart, Grant S., Cantelli, Erika, Oostra, Anneke B., Rooimans, Martin A., Parish, Joanna L., de Almeida Estéves, Cynthia, Dumic, Katja, Barisic, Ingeborg, Diderich, Karin E. M., van Slegtenhorst, Marjon A., Mahtab, Mohammad, Pisani, Francesca M., te Riele, Hein, Ameziane, Najim, Wolthuis, Rob M. F., de Lange, Job
Publicado 2020

Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells

por Glykofridis, Iris E, Knol, Jaco C, Balk, Jesper A, Westland, Denise, Pham, Thang V, Piersma, Sander R, Lougheed, Sinéad M, Derakhshan, Sepide, Veen, Puck, Rooimans, Martin A, van Mil, Saskia E, Böttger, Franziska, Poddighe, Pino J, van de Beek, Irma, Drost, Jarno, Zwartkruis, Fried JT, de Menezes, Renee X, Meijers-Heijboer, Hanne EJ, Houweling, Arjan C, Jimenez, Connie R, Wolthuis, Rob MF
Publicado 2021

Acquired cross-linker resistance associated with a novel spliced BRCA2 protein variant for molecular phenotyping of BRCA2 disruption

por Meyer, Stefan, Stevens, Adam, Paredes, Roberto, Schneider, Marion, Walker, Michael J, Williamson, Andrew J K, Gonzalez-Sanchez, Maria-Belen, Smetsers, Stephanie, Dalal, Vineet, Teng, Hsiang Ying, White, Daniel J, Taylor, Sam, Muter, Joanne, Pierce, Andrew, de Leonibus, Chiara, Rockx, Davy A P, Rooimans, Martin A, Spooncer, Elaine, Stauffer, Stacey, Biswas, Kajal, Godthelp, Barbara, Dorsman, Josephine, Clayton, Peter E, Sharan, Shyam K, Whetton, Anthony D
Publicado 2017

A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51

por Ameziane, Najim, May, Patrick, Haitjema, Anneke, van de Vrugt, Henri J., van Rossum-Fikkert, Sari E., Ristic, Dejan, Williams, Gareth J., Balk, Jesper, Rockx, Davy, Li, Hong, Rooimans, Martin A., Oostra, Anneke B., Velleuer, Eunike, Dietrich, Ralf, Bleijerveld, Onno B., Maarten Altelaar, A. F., Meijers-Heijboer, Hanne, Joenje, Hans, Glusman, Gustavo, Roach, Jared, Hood, Leroy, Galas, David, Wyman, Claire, Balling, Rudi, den Dunnen, Johan, de Winter, Johan P., Kanaar, Roland, Gelinas, Richard, Dorsman, Josephine C.
Publicado 2015