A systematic review and standardized clinical validity assessment of male infertility genes

por Oud, Manon S, Volozonoka, Ludmila, Smits, Roos M, Vissers, Lisenka E L M, Ramos, Liliana, Veltman, Joris A
Publicado no Hum Reprod (2019)

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)

1 in 38 individuals at risk of a dominant medically actionable disease

por Haer-Wigman, Lonneke, van der Schoot, Vyne, Feenstra, Ilse, Vulto-van Silfhout, Anneke T., Gilissen, Christian, Brunner, Han G., Vissers, Lisenka E. L. M., Yntema, Helger G.
Publicado no Eur J Hum Genet (2018)

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)

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 no Eur J Hum Genet (2020)

Correction: 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 no Eur J Hum Genet (2021)

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

Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders

por van der Werf, Ilse M., Jansen, Sandra, de Vries, Petra F., Gerstmans, Amber, van de Vorst, Maartje, Van Dijck, Anke, de Vries, Bert B. A., Gilissen, Christian, Hoischen, Alexander, Vissers, Lisenka E. L. M., Kooy, R. Frank, Vandeweyer, Geert
Publicado no Eur J Hum Genet (2020)

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

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders

por van der Donk, Roos, Jansen, Sandra, Schuurs-Hoeijmakers, Janneke H. M., Koolen, David A., Goltstein, Lia C. M. J., Hoischen, Alexander, Brunner, Han G., Kemmeren, Patrick, Nellåker, Christoffer, Vissers, Lisenka E. L. M., de Vries, Bert B. A., Hehir-Kwa, Jayne Y.
Publicado no Genet Med (2018)

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

Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical information

por Dingemans, Alexander J. M., Stremmelaar, Diante E., Vissers, Lisenka E. L. M., Jansen, Sandra, Nabais Sá, Maria J., van Remortele, Angela, Jonis, Noraly, Truijen, Kim, van de Ven, Sam, Ewals, Jeroen, Verbruggen, Michel, Koolen, David A., Brunner, Han G., Eichler, Evan E., Gecz, Jozef, de Vries, Bert B. A.
Publicado no Am J Med Genet A (2021)

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis

por Coman, David, Vissers, Lisenka E.L.M., Riley, Lisa G., Kwint, Michael P., Hauck, Roxanna, Koster, Janet, Geuer, Sinje, Hopkins, Sarah, Hallinan, Barbra, Sweetman, Larry, Engelke, Udo F.H., Burrow, T. Andrew, Cardinal, John, McGill, James, Inwood, Anita, Gurnsey, Christine, Waterham, Hans R., Christodoulou, John, Wevers, Ron A., Pitt, James
Publicado no Am J Hum Genet (2018)

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