Clinical exome sequencing—Mistakes and caveats

por Corominas, Jordi, Smeekens, Sanne P., Nelen, Marcel R., Yntema, Helger G., Kamsteeg, Erik‐Jan, Pfundt, Rolph, Gilissen, Christian
Publicado 2022

Long-read trio sequencing of individuals with unsolved intellectual disability

por Pauper, Marc, Kucuk, Erdi, Wenger, Aaron M., Chakraborty, Shreyasee, Baybayan, Primo, Kwint, Michael, van der Sanden, Bart, Nelen, Marcel R., Derks, Ronny, Brunner, Han G., Hoischen, Alexander, Vissers, Lisenka E. L. M., Gilissen, Christian
Publicado 2020

Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead

por Veldman, Abigail, Kiewiet, Mensiena B. G., Heiner-Fokkema, Margaretha Rebecca, Nelen, Marcel R., Sinke, Richard J., Sikkema-Raddatz, Birgit, Voorhoeve, Els, Westra, Dineke, Dollé, Martijn E. T., Schielen, Peter C. J. I., van Spronsen, Francjan J.
Publicado 2022

Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns

por Vaz, Frédéric M., Jamal, Youssra, Barto, Rob, Gelb, Michael H., DeBarber, Andrea E., Wevers, Ron A., Nelen, Marcel R., Verrips, Aad, Bootsma, Albert H., Bouva, Marelle J., Kleise, Nick, van der Zee, Walter, He, Tao, Salomons, Gajja S., Huidekoper, Hidde H.
Publicado 2023

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA

por Haer-Wigman, Lonneke, den Ouden, Amber, van Genderen, Maria M., Kroes, Hester Y., Verheij, Joke, Smailhodzic, Dzenita, Hoekstra, Attje S., Vijzelaar, Raymon, Blom, Jan, Derks, Ronny, Tjon-Pon-Fong, Menno, Yntema, Helger G., Nelen, Marcel R., Vissers, Lisenka E.L.M., Lugtenberg, Dorien, Neveling, Kornelia
Publicado 2022

Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas

por Weren, Robbert D.A., Mensenkamp, Arjen R., Simons, Michiel, Eijkelenboom, Astrid, Sie, Aisha S., Ouchene, Hicham, van Asseldonk, Monique, Gomez‐Garcia, Encarna B., Blok, Marinus J., de Hullu, Joanne A., Nelen, Marcel R., Hoischen, Alexander, Bulten, Johan, Tops, Bastiaan B.J., Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L.
Publicado 2016

Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene

por Kuijpers, Taco W., de Vries, Andrica C.H., van Leeuwen, Ester M., Ermens, A.(Ton) A.M., de Pont, Saskia, Smith, Desirée E.C., Wamelink, Mirjam M.C., Mensenkamp, Arjen R., Nelen, Marcel R., Lango Allen, Hana, Pals, Steven T., Beverloo, Berna H.B., Huidekoper, Hidde H., Wagner, Anja
Publicado 2022

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

por Pfundt, Rolph, del Rosario, Marisol, Vissers, Lisenka E.L.M., Kwint, Michael P., Janssen, Irene M., de Leeuw, Nicole, Yntema, Helger G., Nelen, Marcel R., Lugtenberg, Dorien, Kamsteeg, Erik-Jan, Wieskamp, Nienke, Stegmann, Alexander P.A., Stevens, Servi J.C., Rodenburg, Richard J.T., Simons, Annet, Mensenkamp, Arjen R., Rinne, Tuula, Gilissen, Christian, Scheffer, Hans, Veltman, Joris A., Hehir-Kwa, Jayne Y.
Publicado 2017

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

por van der Sanden, Bart P. G. H., Schobers, Gaby, Corominas Galbany, Jordi, Koolen, David A., Sinnema, Margje, van Reeuwijk, Jeroen, Stumpel, Connie T. R. M., Kleefstra, Tjitske, de Vries, Bert B. A., Ruiterkamp-Versteeg, Martina, Leijsten, Nico, Kwint, Michael, Derks, Ronny, Swinkels, Hilde, den Ouden, Amber, Pfundt, Rolph, Rinne, Tuula, de Leeuw, Nicole, Stegmann, Alexander P., Stevens, Servi J., van den Wijngaard, Arthur, Brunner, Han G., Yntema, Helger G., Gilissen, Christian, Nelen, Marcel R., Vissers, Lisenka E. L. M.
Publicado 2022

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

por Walker, Logan C, Fredericksen, Zachary S, Wang, Xianshu, Tarrell, Robert, Pankratz, Vernon S, Lindor, Noralane M, Beesley, Jonathan, Healey, Sue, Chen, Xiaoqing, Stoppa-Lyonnet, Dominique, Tirapo, Carole, Giraud, Sophie, Mazoyer, Sylvie, Muller, Danièle, Fricker, Jean-Pierre, Delnatte, Capucine, Schmutzler, Rita K, Wappenschmidt, Barbara, Engel, Christoph, Schönbuchner, Ines, Deissler, Helmut, Meindl, Alfons, Hogervorst, Frans B, Verheus, Martijn, Hooning, Maartje J, van den Ouweland, Ans MW, Nelen, Marcel R, Ausems, Margreet GEM, Aalfs, Cora M, van Asperen, Christi J, Devilee, Peter, Gerrits, Monique M, Waisfisz, Quinten, Szabo, Csilla I, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Harrington, Patricia, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Eccles, Diana, Ong, Kai-Ren, Cook, Jackie, Rebbeck, Tim, Nathanson, Katherine L, Domchek, Susan M, Singer, Christian F, Gschwantler-Kaulich, Daphne, Dressler, Anne-Catharina, Pfeiler, Georg, Godwin, Andrew K, Heikkinen, Tuomas, Nevanlinna, Heli, Agnarsson, Bjarni A, Caligo, Maria Adelaide, Olsson, Håkan, Kristoffersson, Ulf, Liljegren, Annelie, Arver, Brita, Karlsson, Per, Melin, Beatrice, Sinilnikova, Olga M, McGuffog, Lesley, Antoniou, Antonis C, Chenevix-Trench, Georgia, Spurdle, Amanda B, Couch, Fergus J
Publicado 2010

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of B...

por Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas vO, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Muñoz-Repeto, Iván, Durán, Mercedes, Godino, Javier, Pertesi, Maroulio, Benítez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne EJ, Wijnen, Juul, Gómez García, Encarna B, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine MA, van der Luijt, Rob B, Os, Theo van, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, Side, Lucy E, McCann, Emma, Murray, Alex, Peock, Susan, Godwin, Andrew K, Schmutzler, Rita K, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schäfer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, François, Mazoyer, Sylvie, Léoné, Mélanie, Boutry-Kryza, Nadia, Hardouin, Agnès, Berthet, Pascaline, Muller, Danièle, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomäki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, Barkardottir, Rosa B, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, D'Andrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, Olopade, Olufunmilayo I, Weitzel, Jeffrey N, Lynch, Henry T, Ganz, Patricia A, Tomlinson, Gail E, Wang, Xianshu, Fredericksen, Zachary, Pankratz, Vernon S, Lindor, Noralane M, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, Singer, Christian F, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, Mai, Phuong L, Greene, Mark H, Imyanitov, Evgeny, O'Malley, Frances P, Ozcelik, Hilmi, Glendon, Gordon, Toland, Amanda E, Gerdes, Anne-Marie, Thomassen, Mads, Kruse, Torben A, Jensen, Uffe Birk, Skytte, Anne-Bine, Caligo, Maria A, Soller, Maria, Henriksson, Karin, Wachenfeldt, von Anna, Arver, Brita, Stenmark-Askmalm, Marie, Karlsson, Per, Ding, Yuan Chun, Neuhausen, Susan L, Beattie, Mary, Pharoah, Paul DP, Moysich, Kirsten B, Nathanson, Katherine L, Karlan, Beth Y, Gross, Jenny, John, Esther M, Daly, Mary B, Buys, Saundra M, Southey, Melissa C, Hopper, John L, Terry, Mary Beth, Chung, Wendy, Miron, Alexander F, Goldgar, David, Chenevix-Trench, Georgia, Easton, Douglas F, Andrulis, Irene L, Antoniou, Antonis C
Publicado 2011