Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes

Por Lelieveld, Stefan H., Wiel, Laurens, Venselaar, Hanka, Pfundt, Rolph, Vriend, Gerrit, Veltman, Joris A., Brunner, Han G., Vissers, Lisenka E.L.M., Gilissen, Christian
Publicado no Am J Hum Genet (2017)

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

Por Acuna-Hidalgo, Rocio, Bo, Tan, Kwint, Michael P., van de Vorst, Maartje, Pinelli, Michele, Veltman, Joris A., Hoischen, Alexander, Vissers, Lisenka E.L.M., Gilissen, Christian
Publicado no Am J Hum Genet (2015)

Mobster: accurate detection of mobile element insertions in next generation sequencing data

Por Thung, Djie Tjwan, de Ligt, Joep, Vissers, Lisenka EM, Steehouwer, Marloes, Kroon, Mark, de Vries, Petra, Slagboom, Eline P, Ye, Kai, Veltman, Joris A, Hehir-Kwa, Jayne Y
Publicado no Genome Biol (2014)

Exome Sequencing Identifies Three Novel Candidate Genes Implicated in Intellectual Disability

Por Agha, Zehra, Iqbal, Zafar, Azam, Maleeha, Ayub, Humaira, Vissers, Lisenka E. L. M., Gilissen, Christian, Ali, Syeda Hafiza Benish, Riaz, Moeen, Veltman, Joris A., Pfundt, Rolph, van Bokhoven, Hans, Qamar, Raheel
Publicado no PLoS One (2014)

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

Por de Ligt, Joep, Boone, Philip M., Pfundt, Rolph, Vissers, Lisenka E.L.M., de Leeuw, Nicole, Shaw, Christine, Brunner, Han G., Lupski, James R., Veltman, Joris A., Hehir-Kwa, Jayne Y.
Publicado no Genom Data (2014)

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome

Por Willemsen, Michèl A, Vissers, Lisenka ELM, Verbeek, Marcel M, van Bon, Bregje W, Geuer, Sinje, Gilissen, Christian, Klepper, Joerg, Kwint, Michael P, Leen, Wilhelmina G, Pennings, Maartje, Wevers, Ron A, Veltman, Joris A, Kamsteeg, Erik-Jan
Publicado no Eur J Hum Genet (2017)

Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans

Por Feenstra, Ilse, Vissers, Lisenka E.L.M., Pennings, Ronald J.E., Nillessen, Willy, Pfundt, Rolph, Kunst, Henricus P., Admiraal, Ronald J., Veltman, Joris A., van Ravenswaaij-Arts, Conny M.A., Brunner, Han G., Cremers, Cor W.R.J.
Publicado em 2011

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

Por Koolen, David A, Dupont, Juliette, de Leeuw, Nicole, Vissers, Lisenka ELM, van den Heuvel, Simone PA, Bradbury, Alyson, Steer, James, de Brouwer, Arjan PM, ten Kate, Leo P, Nillesen, Willy M, de Vries, Bert BA, Parker, Michael J
Publicado em 2012

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

Por Iqbal, Zafar, Shahzad, Mohsin, Vissers, Lisenka E L M, van Scherpenzeel, Monique, Gilissen, Christian, Razzaq, Attia, Zahoor, Muhammad Yasir, Khan, Shaheen N, Kleefstra, Tjitske, Veltman, Joris A, de Brouwer, Arjan P M, Lefeber, Dirk J, van Bokhoven, Hans, Riazuddin, Sheikh
Publicado em 2013

Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP

Por Vissers, Lisenka E.L.M., Lausch, Ekkehart, Unger, Sheila, Campos-Xavier, Ana Belinda, Gilissen, Christian, Rossi, Antonio, Del Rosario, Marisol, Venselaar, Hanka, Knoll, Ute, Nampoothiri, Sheela, Nair, Mohandas, Spranger, Jürgen, Brunner, Han G., Bonafé, Luisa, Veltman, Joris A., Zabel, Bernhard, Superti-Furga, Andrea
Publicado em 2011

Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing

Por Itsara, Andy, Vissers, Lisenka E.L.M., Steinberg, Karyn Meltz, Meyer, Kevin J., Zody, Michael C., Koolen, David A., de Ligt, Joep, Cuppen, Edwin, Baker, Carl, Lee, Choli, Graves, Tina A., Wilson, Richard K., Jenkins, Robert B., Veltman, Joris A., Eichler, Evan E.
Publicado em 2012

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

Por Iqbal, Zafar, Püttmann, Lucia, Musante, Luciana, Razzaq, Attia, Zahoor, Muhammad Yasir, Hu, Hao, Wienker, Thomas F, Garshasbi, Masoud, Fattahi, Zohreh, Gilissen, Christian, Vissers, Lisenka ELM, de Brouwer, Arjan PM, Veltman, Joris A, Pfundt, Rolph, Najmabadi, Hossein, Ropers, Hans-Hilger, Riazuddin, Sheikh, Kahrizi, Kimia, van Bokhoven, Hans
Publicado no Eur J Hum Genet (2016)

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

Por Vissers, Lisenka E.L.M., van Nimwegen, Kirsten J.M., Schieving, Jolanda H., Kamsteeg, Erik-Jan, Kleefstra, Tjitske, Yntema, Helger G., Pfundt, Rolph, van der Wilt, Gert Jan, Krabbenborg, Lotte, Brunner, Han G., van der Burg, Simone, Grutters, Janneke, Veltman, Joris A., Willemsen, Michèl A.A.P.
Publicado no Genet Med (2017)

De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome

Por Simpson, Michael A., Deshpande, Charu, Dafou, Dimitra, Vissers, Lisenka E.L.M., Woollard, Wesley J., Holder, Susan E., Gillessen-Kaesbach, Gabriele, Derks, Ronny, White, Susan M., Cohen-Snuijf, Ruthy, Kant, Sarina G., Hoefsloot, Lies H., Reardon, Willie, Brunner, Han G., Bongers, Ernie M.H.F., Trembath, Richard C.
Publicado em 2012

Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

Por Schuurs-Hoeijmakers, Janneke H.M., Oh, Edwin C., Vissers, Lisenka E.L.M., Swinkels, Mariëlle E.M., Gilissen, Christian, Willemsen, Michèl A., Holvoet, Maureen, Steehouwer, Marloes, Veltman, Joris A., de Vries, Bert B.A., van Bokhoven, Hans, de Brouwer, Arjan P.M., Katsanis, Nicholas, Devriendt, Koenraad, Brunner, Han G.
Publicado em 2012

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

Por Vissers, Lisenka ELM, Bonetti, Monica, Paardekooper Overman, Jeroen, Nillesen, Willy M, Frints, Suzanna G M, de Ligt, Joep, Zampino, Giuseppe, Justino, Ana, Machado, José C, Schepens, Marga, Brunner, Han G, Veltman, Joris A, Scheffer, Hans, Gros, Piet, Costa, José L, Tartaglia, Marco, van der Burgt, Ineke, Yntema, Helger G, den Hertog, Jeroen
Publicado no Eur J Hum Genet (2015)

Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

Por Vissers, Lisenka E. L. M., Cox, Timothy C., Maga, A. Murat, Short, Kieran M., Wiradjaja, Fenny, Janssen, Irene M., Jehee, Fernanda, Bertola, Debora, Liu, Jia, Yagnik, Garima, Sekiguchi, Kiyotoshi, Kiyozumi, Daiji, van Bokhoven, Hans, Marcelis, Carlo, Cunningham, Michael L., Anderson, Peter J., Boyadjiev, Simeon A., Passos-Bueno, Maria Rita, Veltman, Joris A., Smyth, Ian, Buckley, Michael F., Roscioli, Tony
Publicado em 2011

Homozygous SLC6A17 Mutations Cause Autosomal-Recessive Intellectual Disability with Progressive Tremor, Speech Impairment, and Behavioral Problems

Por Iqbal, Zafar, Willemsen, Marjolein H., Papon, Marie-Amélie, Musante, Luciana, Benevento, Marco, Hu, Hao, Venselaar, Hanka, Wissink-Lindhout, Willemijn M., Vulto-van Silfhout, Anneke T., Vissers, Lisenka E.L.M., de Brouwer, Arjan P.M., Marouillat, Sylviane, Wienker, Thomas F., Ropers, Hans Hilger, Kahrizi, Kimia, Nadif Kasri, Nael, Najmabadi, Hossein, Laumonnier, Frédéric, Kleefstra, Tjitske, van Bokhoven, Hans
Publicado no Am J Hum Genet (2015)

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

Por Ba, Wei, Yan, Yan, Reijnders, Margot R.F., Schuurs-Hoeijmakers, Janneke H.M., Feenstra, Ilse, Bongers, Ernie M.H.F., Bosch, Daniëlle G.M., De Leeuw, Nicole, Pfundt, Rolph, Gilissen, Christian, De Vries, Petra F., Veltman, Joris A., Hoischen, Alexander, Mefford, Heather C., Eichler, Evan E., Vissers, Lisenka E.L.M., Nadif Kasri, Nael, De Vries, Bert B.A.
Publicado no Hum Mol Genet (2016)

Diagnostic Genome Profiling in Mental Retardation

Por de Vries, Bert B. A., Pfundt, Rolph, Leisink, Martijn, Koolen, David A., Vissers, Lisenka E. L. M., Janssen, Irene M., Reijmersdal, Simon van, Nillesen, Willy M., Huys, Erik H. L. P. G., Leeuw, Nicole de, Smeets, Dominique, Sistermans, Erik A., Feuth, Ton, van Ravenswaaij-Arts, Conny M. A., van Kessel, Ad Geurts, Schoenmakers, Eric F. P. M., Brunner, Han G., Veltman, Joris A.
Publicado em 2005