The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2

Authors: Hinić, Snežana, Cybulski, Cezary, Van der Post, Rachel S., Vos, Janet R., Schuurs-Hoeijmakers, Janneke, Brugnoletti, Fulvia, Koene, Saskia, Vreede, Lilian, van Zelst-Stams, Wendy A.G., Kets, C. Marleen, Haadsma, Maaike, Spruijt, Liesbeth, Wevers, Marijke R., Evans, D. Gareth, Wimmer, Katharina, Schnaiter, Simon, Volk, Alexander E., Möllring, Anna, de Putter, Robin, Soikkonen, Leila, Kahre, Tiina, Tooming, Mikk, de Jong, Mirjam M., Vaz, Fátima, Mensenkamp, Arjen R., Genuardi, Maurizio, Lubinski, Jan, Ligtenberg, Marjolijn, Hoogerbrugge, Nicoline, de Voer, Richarda M.

Source: In Genetics in Medicine May 2024 26(5)

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

Authors: Reurink, Janine, Weisschuh, Nicole, Garanto, Alejandro, Dockery, Adrian, van den Born, L. Ingeborgh, Fajardy, Isabelle, Haer-Wigman, Lonneke, Kohl, Susanne, Wissinger, Bernd, Farrar, G. Jane, Ben-Yosef, Tamar, Pfiffner, Fatma Kivrak, Berger, Wolfgang, Weener, Marianna E., Dudakova, Lubica, Liskova, Petra, Sharon, Dror, Salameh, Manar, Offenheim, Ashley, Heon, Elise, Girotto, Giorgia, Gasparini, Paolo, Morgan, Anna, Bergen, Arthur A., ten Brink, Jacoline B., Klaver, Caroline C.W., Tranebjærg, Lisbeth, Rendtorff, Nanna D., Vermeer, Sascha, Smits, Jeroen J., Pennings, Ronald J.E., Aben, Marco, Oostrik, Jaap, Astuti, Galuh D.N., Corominas Galbany, Jordi, Kroes, Hester Y., Phan, Milan, van Zelst-Stams, Wendy A.G., Thiadens, Alberta A.H.J., Verheij, Joke B.G.M., van Schooneveld, Mary J., de Bruijn, Suzanne E., Li, Catherina H.Z., Hoyng, Carel B., Gilissen, Christian, Vissers, Lisenka E.L.M., Cremers, Frans P.M., Kremer, Hannie, van Wijk, Erwin, Roosing, Susanne

Source: In Human Genetics and Genomics Advances 13 April 2023 4(2)

Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis

Authors: Olde Keizer, Richelle A.C.M., Marouane, Abderrahim, Deden, A. Chantal, van Zelst-Stams, Wendy A.G., de Boode, Willem P., Keusters, Willem R., Henneman, Lidewij, van Amstel, Johannes Kristian Ploos, Frederix, Gerardus W.J., Vissers, Lisenka E.L.M.

Source: In European Journal of Medical Genetics May 2022 65(5)

Somatic Nonepigenetic Mismatch Repair Gene Aberrations Underly Most Mismatch Repair–Deficient Lynch-Like Tumors

Authors: Dommering, Charlotte J., Hoogerbrugge, Nicoline, de Jong, Mirjam M., Bleeker, Fonnet E., Leter, Edward M., Letteboer, Tom G.W., Nielsen, Maartje, van der Post, Rachel S., Wapstra, Brigit, Elze, Lisa, Mensenkamp, Arjen R., Nagtegaal, Iris D., van Zelst-Stams, Wendy A.G., de Voer, Richarda M., Ligtenberg, Marjolijn J.L.

Source: In Gastroenterology March 2021 160(4):1414-1416

Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

Authors: Page, Elizabeth C., Bancroft, Elizabeth K., Brook, Mark N., Assel, Melissa, Hassan Al Battat, Mona, Thomas, Sarah, Taylor, Natalie, Chamberlain, Anthony, Pope, Jennifer, Raghallaigh, Holly Ni, Evans, D. Gareth, Rothwell, Jeanette, Maehle, Lovise, Grindedal, Eli Marie, James, Paul, Mascarenhas, Lyon, McKinley, Joanne, Side, Lucy, Thomas, Tessy, van Asperen, Christi, Vasen, Hans, Kiemeney, Lambertus A., Ringelberg, Janneke, Jensen, Thomas Dyrsø, Osther, Palle J.S., Helfand, Brian T., Genova, Elena, Oldenburg, Rogier A., Cybulski, Cezary, Wokolorczyk, Dominika, Ong, Kai-Ren, Huber, Camilla, Lam, Jimmy, Taylor, Louise, Salinas, Monica, Feliubadaló, Lidia, Oosterwijk, Jan C., van Zelst-Stams, Wendy, Cook, Jackie, Rosario, Derek J., Domchek, Susan, Powers, Jacquelyn, Buys, Saundra, O'Toole, Karen, Ausems, Margreet G.E.M., Schmutzler, Rita K., Rhiem, Kerstin, Izatt, Louise, Tripathi, Vishakha, Teixeira, Manuel R., Cardoso, Marta, Foulkes, William D., Aprikian, Armen, van Randeraad, Heleen, Davidson, Rosemarie, Longmuir, Mark, Ruijs, Mariëlle W.G., Helderman van den Enden, Apollonia T.J.M., Adank, Muriel, Williams, Rachel, Andrews, Lesley, Murphy, Declan G., Halliday, Dorothy, Walker, Lisa, Liljegren, Annelie, Carlsson, Stefan, Azzabi, Ashraf, Jobson, Irene, Morton, Catherine, Shackleton, Kylie, Snape, Katie, Hanson, Helen, Harris, Marion, Tischkowitz, Marc, Taylor, Amy, Kirk, Judy, Susman, Rachel, Chen-Shtoyerman, Rakefet, Spigelman, Allan, Pachter, Nicholas, Ahmed, Munaza, Ramon y Cajal, Teresa, Zgajnar, Janez, Brewer, Carole, Gadea, Neus, Brady, Angela F., van Os, Theo, Gallagher, David, Johannsson, Oskar, Donaldson, Alan, Barwell, Julian, Nicolai, Nicola, Friedman, Eitan, Obeid, Elias, Greenhalgh, Lynn, Murthy, Vedang, Copakova, Lucia, Saya, Sibel, McGrath, John, Cooke, Peter, Rønlund, Karina, Richardson, Kate, Henderson, Alex, Teo, Soo H., Arun, Banu, Kast, Karin, Dias, Alexander, Aaronson, Neil K., Ardern-Jones, Audrey, Bangma, Chris H., Castro, Elena, Dearnaley, David, Eccles, Diana M., Tricker, Karen, Eyfjord, Jorunn, Falconer, Alison, Foster, Christopher, Gronberg, Henrik, Hamdy, Freddie C., Stefansdottir, Vigdis, Khoo, Vincent, Lindeman, Geoffrey J., Lubinski, Jan, Axcrona, Karol, Mikropoulos, Christos, Mitra, Anita, Moynihan, Clare, Rennert, Gadi, Suri, Mohnish, Wilson, Penny, Dudderidge, Tim, Offman, Judith, Kote-Jarai, Zsofia, Vickers, Andrew, Lilja, Hans, Eeles, Rosalind A.

Source: In European Urology December 2019 76(6):831-842

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Authors: Delgado-Vega, Angelica Maria, Cederroth, Helene, Taylan, Fulya, Ekholm, Katja, Ek, Marlene, Thonberg, Håkan, Jemt, Anders, Nilsson, Daniel, Eisfeldt, Jesper, Bilgrav Saether, Kristine, Höijer, Ida, Akgun-Dogan, Ozlem, Asano, Yui, Barakat, Tahsin Stefan, Batkovskyte, Dominyka, Baynam, Gareth, Bodamer, Olaf, Chetruengchai, Wanna, Corcoran, Pádraic, Couse, Madeline, Danis, Daniel, Demidov, German, Dohi, Eisuke, Erhardsson, Mattias, Fernandez-Luna, Luis, Fujiwara, Toyofumi, Garg, Neha, Giugliani, Roberto, Gonzaga-Jauregui, Claudia, Grigelioniene, Giedre, Groza, Tudor, Gunnarsson, Cecilia, Hammarsjö, Anna, Hammond, Charles Kumi, Hatirnaz Ng, Özden, Hesketh, Sirisha, Hettiarachchi, Dineshani, Johansson Soller, Maria, Kirmani, Umn Ahmed, Kjellberg, Martin, Kvarnung, Malin, Kvlividze, Oleg, Lagerstedt-Robinson, Kristina, Lasko, Paul, Lassmann, Timo, Lau, Lynette Y. S., Laurie, Steven, Lim, Weng Khong, Liu, Zhandong, Lysenkova Wiklander, Mariya, Makay, Prince, Maiga, Alassane Baneye, Maya-González, Carolina, Meyn, M. Stephen, Neethiraj, Ramprasad, Nigro, Vincenzo, Nordgren, Felix, Nordlund, Jessica, Orrsjö, Sara, Ottosson, Jesper, Ozbek, Ugur, Özdemir, Özkan, Partin, Clyde, Pearce, David A., Peck, Raquel, Pedersen, Annie, Pettersson, Maria, Pongpanich, Monnat, Posada de la Paz, Manuel, Ramani, Arun, Romero, Juan Andres, Romero, Vanessa I., Rosenquist, Richard, Saw, Aung Min, Spencer, Matthew, Stattin, Eva-Lena, Srichomthong, Chalurmpon, Tapia-Paez, Isabel, Taruscio, Domenica, Taylor, Julie P., Tkemaladze, Tinatin, Tully, Ian, Tümer, Zeynep, van Zelst-Stams, Wendy A. G., Verloes, Alain, Västerviga, Emma, Wang, Sailan, Yang, Rachel, Yamamoto, Shinya, Yépez, Vicente A., Zhang, Qing, Shotelersuk, Vorasuk, Wiafe, Samuel Agyei, Alanay, Yasemin, Botto, Lorenzo D., Kirmani, Salman, Lumaka, Aimé, Palmer, Elizabeth Emma, Puri, Ratna Dua, Wirta, Valtteri, Lindstrand, Anna, Buske, Orion J., Cederroth, Mikk, Nordgren, Ann

Source: Nature Genetics; November 2024, Vol. 56 Issue: 11 p2287-2294, 8p

Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies?

Authors: van Huet, Ramon A., Klevering, B. Jeroen, Bax, Nathalie M., Lambertus, Stanley, Klaver, Caroline C.W., Hoyng, Carel B., Oomen, Clasien J., van Zelst-Stams, Wendy A., Cremers, Frans P., Plomp, Astrid S., van Schooneveld, Mary J., van Genderen, Mies M., Schuil, José, Boonstra, F. Nienke, Schlingemann, Reinier O., Bergen, Arthur A., Pierrache, Laurence, Meester-Smoor, Magda, van den Born, L. Ingeborgh, Boon, Camiel J., Pott, Jan W.R., van Leeuwen, Redmer, Kroes, Hester Y, de Jong-Hesse, Yvonne, Hendriks, Michelle, Verhoeven, Virginie J.M., Buitendijk, Gabriëlle H.S., Polling, Jan Roelof, Meester-Smoor, Magda A., Hofman, Albert, Kamermans, Maarten, Ingeborgh van den Born, L.

Source: In American Journal of Ophthalmology October 2017 182:81-89

Somatic Nonepigenetic Mismatch Repair Gene Aberrations Underly Most Mismatch Repair–Deficient Lynch-Like Tumors

Authors: Elze, Lisa, Mensenkamp, Arjen R., Nagtegaal, Iris D., van Zelst-Stams, Wendy A.G., de Voer, Richarda M., Ligtenberg, Marjolijn J.L.

Source: Gastroenterology. 160(4):1414-1416.e3

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100182531072.0x000001&indx=1&recIds=ETOCvdc_100182531072.0x000001

Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations: From Syndromic to Nonsyndromic Retinal Degeneration

Authors: Nishiguchi, Koji M., Avila-Fernandez, Almudena, van Huet, Ramon A.C., Corton, Marta, Pérez-Carro, Raquel, Martín-Garrido, Esther, López-Molina, María Isabel, Blanco-Kelly, Fiona, Hoefsloot, Lies H., van Zelst-Stams, Wendy A., García-Ruiz, Pedro J., del Val, Javier, Di Gioia, Silvio Alessandro, Klevering, B. Jeroen, van de Warrenburg, Bart P.C., Vazquez, Carlos, Cremers, Frans P.M., García-Sandoval, Blanca, Hoyng, Carel B., Collin, Rob W.J., Rivolta, Carlo, Ayuso, Carmen

Source: In Ophthalmology August 2014 121(8):1620-1627

Somatic Mutations in MLH1 and MSH2 Are a Frequent Cause of Mismatch-Repair Deficiency in Lynch Syndrome-Like Tumors

Authors: Mensenkamp, Arjen R., Vogelaar, Ingrid P., van Zelst–Stams, Wendy A.G., Goossens, Monique, Ouchene, Hicham, Hendriks–Cornelissen, Sandra J.B., Kwint, Michael P., Hoogerbrugge, Nicoline, Nagtegaal, Iris D., Ligtenberg, Marjolijn J.L.

Source: In Gastroenterology March 2014 146(3):643-646

Immunologic defects in severe mucocutaneous HSV-2 infections: Response to IFN-γ therapy

Authors: Arts, Peer, van de Veerdonk, Frank L., van der Lee, Robin, Langereis, Martijn A., Gilissen, Christian, van Zelst-Stams, Wendy A.G., Huynen, Martijn A., van der Meer, Jos W.M., van Kuppeveld, Frank J., Veltman, Joris A., Kullberg, Bart Jan, Hoischen, Alexander, Netea, Mihai G.

Source: Journal of allergy and clinical immunology. 138(3):895-898

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100069974900.0x000001&indx=1&recIds=ETOCvdc_100069974900.0x000001

Do BRCA1/2 mutation carriers have an earlier onset of natural menopause?

Authors: van Tilborg, Theodora C., Broekmans, Frank J., Pijpe, Anouk, Schrijver, Lieske H., Mooij, Thea M., Oosterwijk, Jan C., Verhoef, Senno, Gómez Garcia, Encarna B., van Zelst-Stams, Wendy A., Adank, Muriel A., van Asperen, Christi J., van Doorn, Helena C., van Os, Theo A., Bos, Anna M., Rookus, Matti A., Ausems, Margreet G.

Source: Menopause. 23(8):903-910

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100175822553.0x000001&indx=1&recIds=ETOCvdc_100175822553.0x000001

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Authors: Arts, Peer, Simons, Annet, AlZahrani, Mofareh S., Yilmaz, Elanur, AlIdrissi, Eman, van Aerde, Koen J., Alenezi, Njood, AlGhamdi, Hamza A., AlJubab, Hadeel A., Al-Hussaini, Abdulrahman A., AlManjomi, Fahad, Alsaad, Alaa B., Alsaleem, Badr, Andijani, Abdulrahman A., Asery, Ali, Ballourah, Walid, Bleeker-Rovers, Chantal P., van Deuren, Marcel, van der Flier, Michiel, Gerkes, Erica H., Gilissen, Christian, Habazi, Murad K., Hehir-Kwa, Jayne Y., Henriet, Stefanie S., Hoppenreijs, Esther P., Hortillosa, Sarah, Kerkhofs, Chantal H., Keski-Filppula, Riikka, Lelieveld, Stefan H., Lone, Khurram, MacKenzie, Marius A., Mensenkamp, Arjen R., Moilanen, Jukka, Nelen, Marcel, ten Oever, Jaap, Potjewijd, Judith, van Paassen, Pieter, Schuurs-Hoeijmakers, Janneke H. M., Simon, Anna, Stokowy, Tomasz, van de Vorst, Maartje, Vreeburg, Maaike, Wagner, Anja, van Well, Gijs T. J., Zafeiropoulou, Dimitra, Zonneveld-Huijssoon, Evelien, Veltman, Joris A., van Zelst-Stams, Wendy A. G., Faqeih, Eissa A., van de Veerdonk, Frank L., Netea, Mihai G., Hoischen, Alexander

Source: Genome medicine. 11(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100130325091.0x000001&indx=1&recIds=ETOCvdc_100130325091.0x000001

The power of diversity!

Authors: Cederroth, Helene ^a, Cellini, Barbara ^b, Gonzaga-Jauregui, Claudia ^c, Han, Jinming ^d, Umair, Muhammad ^e, Palmer, Elizabeth ^f, van Zelst-Stams, Wendy ^{g, ⁎}

Source: In Rare 2024 2

Launching Rare

Authors: van Zelst-Stams, Wendy A.G.

Source: In Rare 2023 1

DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct

Authors: Sie Aisha S, Spruijt Liesbeth, van Zelst-Stams Wendy AG, Mensenkamp Arjen R, Ligtenberg Marjolijn J, Brunner Han G, Prins Judith B, Hoogerbrugge Nicoline

Source: BMC Women's Health, Vol 12, Iss 1, p 12 (2012)

Subject Terms: Hereditary, Breast cancer, BRCA, Genetic, Counseling, DNA, Gynecology and obstetrics, RG1-991, Public aspects of medicine, RA1-1270

File Description: electronic resource

Relation: http://www.biomedcentral.com/1472-6874/12/12; https://doaj.org/toc/1472-6874

Access URL: https://doaj.org/article/a17623d49b8b473e8cc656ecbec12006

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.

Authors: de Voer, Richarda M.¹, Hahn, Marc-Manuel¹, Weren, Robbert D. A.¹, Mensenkamp, Arjen R.¹, Gilissen, Christian¹, van Zelst-Stams, Wendy A.¹, Spruijt, Liesbeth¹, Kets, C. Marleen¹, Zhang, Junxiao¹, Venselaar, Hanka², Vreede, Lilian¹, Schubert, Nil¹, Tychon, Marloes¹, Derks, Ronny¹, Schackert, Hans K.³, Geurts van Kessel, Ad¹, Hoogerbrugge, Nicoline¹, Ligtenberg, Marjolijn J. L.^1,4, Kuiper, Roland P.¹, roland.kuiper@radboudumc.nl

Source: PLoS Genetics; 2/22/2016, Vol. 12 Issue 2, p1-19, 19p

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