Novel bioinformatic developments for exome sequencing

por Lelieveld, Stefan H., Veltman, Joris A., Gilissen, Christian
Publicado 2016

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions

por Lelieveld, Stefan H., Spielmann, Malte, Mundlos, Stefan, Veltman, Joris A., Gilissen, Christian
Publicado 2015

Unravelling the Sequential Interplay of Mutational Mechanisms during Clonal Evolution in Relapsed Pediatric Acute Lymphoblastic Leukemia

por Antić, Željko, Lelieveld, Stefan H., van der Ham, Cédric G., Sonneveld, Edwin, Hoogerbrugge, Peter M., Kuiper, Roland P.
Publicado 2021

ConBind: motif-aware cross-species alignment for the identification of functional transcription factor binding sites

por Lelieveld, Stefan H., Schütte, Judith, Dijkstra, Maurits J.J., Bawono, Punto, Kinston, Sarah J., Göttgens, Berthold, Heringa, Jaap, Bonzanni, Nicola
Publicado 2016

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

por Stevens, Servi J. C., van Essen, Anthonie J., van Ravenswaaij, Conny M. A., Elias, Abdallah F., Haven, Jaclyn A., Lelieveld, Stefan H., Pfundt, Rolph, Nillesen, Willy M., Yntema, Helger G., van Roozendaal, Kees, Stegmann, Alexander P., Gilissen, Christian, Brunner, Han G.
Publicado 2016

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

por Perez-Carro, Raquel, Corton, Marta, Sánchez-Navarro, Iker, Zurita, Olga, Sanchez-Bolivar, Noelia, Sánchez-Alcudia, Rocío, Lelieveld, Stefan H., Aller, Elena, Lopez-Martinez, Miguel Angel, López-Molina, Mª Isabel, Fernandez-San Jose, Patricia, Blanco-Kelly, Fiona, Riveiro-Alvarez, Rosa, Gilissen, Christian, Millan, Jose M, Avila-Fernandez, Almudena, Ayuso, Carmen
Publicado 2016

Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

por Perez-Carro, Raquel, Corton, Marta, Sánchez-Navarro, Iker, Zurita, Olga, Sanchez-Bolivar, Noelia, Sánchez-Alcudia, Rocío, Lelieveld, Stefan H., Aller, Elena, Lopez-Martinez, Miguel Angel, López-Molina, Mª Isabel, Fernandez-San Jose, Patricia, Blanco-Kelly, Fiona, Riveiro-Alvarez, Rosa, Gilissen, Christian, Millan, Jose M, Avila-Fernandez, Almudena, Ayuso, Carmen
Publicado 2016

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer’s disease

por Nicolas, Gaël, Acuña-Hidalgo, Rocío, Keogh, Michael J., Quenez, Olivier, Steehouwer, Marloes, Lelieveld, Stefan, Rousseau, Stéphane, Richard, Anne-Claire, Oud, Manon S., Marguet, Florent, Laquerrière, Annie, Morris, Chris M., Attems, Johannes, Smith, Colin, Ansorge, Olaf, Al Sarraj, Safa, Frebourg, Thierry, Campion, Dominique, Hannequin, Didier, Wallon, David, Gilissen, Christian, Chinnery, Patrick F., Veltman, Joris A., Hoischen, Alexander
Publicado 2018

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

por Haer-Wigman, Lonneke, van Zelst-Stams, Wendy AG, Pfundt, Rolph, van den Born, L Ingeborgh, Klaver, Caroline CW, Verheij, Joke BGM, Hoyng, Carel B, Breuning, Martijn H, Boon, Camiel JF, Kievit, Anneke J, Verhoeven, Virginie JM, Pott, Jan WR, Sallevelt, Suzanne CEH, van Hagen, Johanna M, Plomp, Astrid S, Kroes, Hester Y, Lelieveld, Stefan H, Hehir-Kwa, Jayne Y, Castelein, Steven, Nelen, Marcel, Scheffer, Hans, Lugtenberg, Dorien, Cremers, Frans PM, Hoefsloot, Lies, Yntema, Helger G
Publicado 2017

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

por Wesdorp, Mieke, de Koning Gans, Pia A. M., Schraders, Margit, Oostrik, Jaap, Huynen, Martijn A., Venselaar, Hanka, Beynon, Andy J., van Gaalen, Judith, Piai, Vitória, Voermans, Nicol, van Rossum, Michelle M., Hartel, Bas P., Lelieveld, Stefan H., Wiel, Laurens, Verbist, Berit, Rotteveel, Liselotte J., van Dooren, Marieke F., Lichtner, Peter, Kunst, Henricus P. M., Feenstra, Ilse, Admiraal, Ronald J. C., Yntema, Helger G., Hoefsloot, Lies H., Pennings, Ronald J. E., Kremer, Hannie
Publicado 2018

Evidence for 28 genetic disorders discovered by combining healthcare and research data

por Kaplanis, Joanna, Samocha, Kaitlin E., Wiel, Laurens, Zhang, Zhancheng, Arvai, Kevin J., Eberhardt, Ruth Y., Gallone, Giuseppe, Lelieveld, Stefan H., Martin, Hilary C., McRae, Jeremy F., Short, Patrick J., Torene, Rebecca I., de Boer, Elke, Danecek, Petr, Gardner, Eugene J., Huang, Ni, Lord, Jenny, Martincorena, Iñigo, Pfundt, Rolph, Reijnders, Margot R. F., Yeung, Alison, Yntema, Helger G., Vissers, Lisenka E. L. M., Juusola, Jane, Wright, Caroline F., Brunner, Han G., Firth, Helen V., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., Gilissen, Christian, Retterer, Kyle
Publicado 2020

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

por Gabriele, Michele, Vulto-van Silfhout, Anneke T., Germain, Pierre-Luc, Vitriolo, Alessandro, Kumar, Raman, Douglas, Evelyn, Haan, Eric, Kosaki, Kenjiro, Takenouchi, Toshiki, Rauch, Anita, Steindl, Katharina, Frengen, Eirik, Misceo, Doriana, Pedurupillay, Christeen Ramane J., Stromme, Petter, Rosenfeld, Jill A., Shao, Yunru, Craigen, William J., Schaaf, Christian P., Rodriguez-Buritica, David, Farach, Laura, Friedman, Jennifer, Thulin, Perla, McLean, Scott D., Nugent, Kimberly M., Morton, Jenny, Nicholl, Jillian, Andrieux, Joris, Stray-Pedersen, Asbjørg, Chambon, Pascal, Patrier, Sophie, Lynch, Sally A., Kjaergaard, Susanne, Tørring, Pernille M., Brasch-Andersen, Charlotte, Ronan, Anne, van Haeringen, Arie, Anderson, Peter J., Powis, Zöe, Brunner, Han G., Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke H.M., van Bon, Bregje W.M., Lelieveld, Stefan, Gilissen, Christian, Nillesen, Willy M., Vissers, Lisenka E.L.M., Gecz, Jozef, Koolen, David A., Testa, Giuseppe, de Vries, Bert B.A.
Publicado 2017

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

por 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
Publicado 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

por Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.
Publicado 2018

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

por Blok, Lot Snijders, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.
Publicado 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

por Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.
Publicado 2019