Search Results - "Vissers, Lisenka Elm"

Point mutations as a source of de novo genetic disease by de Ligt, Joep, Veltman, Joris A, Vissers, Lisenka ELM

“…Family-based next generation sequencing (NGS) has recently pointed to an important role for de novo germline point mutations in both rare and common genetic…”
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Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome by 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

“…Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder with a complex phenotypic spectrum but simple biomarkers in cerebrospinal…”
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Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration by Iqbal, Zafar, Püttmann, Lucia, Musante, Luciana, Razzaq, Attia, Zahoor, Muhammad Yasir, Hu, Hao, Wienker, Thomas F, Garshasbi, Masoud, Fattahi, Zohreh, Gilissen, Christian, Vissers, Lisenka E L M, de Brouwer, Arjan P M, Veltman, Joris A, Pfundt, Rolph, Najmabadi, Hossein, Ropers, Hans-Hilger, Riazuddin, Sheikh, Kahrizi, Kimia, van Bokhoven, Hans

“…AIMP1/p43 is a multifunctional non-catalytic component of the multisynthetase complex. The complex consists of nine catalytic and three non-catalytic proteins,…”
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Genetic studies in intellectual disability and related disorders by Vissers, Lisenka E. L. M., Gilissen, Christian, Veltman, Joris A.

“…Key Points Whole-exome and whole-genome sequencing approaches have provided new insights into the genetics of intellectual disability (ID) and are rapidly…”
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability by de Ligt, Joep, Willemsen, Marjolein H, van Bon, Bregje W.M, Kleefstra, Tjitske, Yntema, Helger G, Kroes, Thessa, Vulto-van Silfhout, Anneke T, Koolen, David A, de Vries, Petra, Gilissen, Christian, del Rosario, Marisol, Hoischen, Alexander, Scheffer, Hans, de Vries, Bert B.A, Brunner, Han G, Veltman, Joris A, Vissers, Lisenka E.L.M

“…In this study, exome sequencing yielded a genetic diagnosis in 16% of patients who had previously been evaluated to rule out known causes of intellectual…”
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A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology by 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.

“…Purpose: Implementation of novel genetic diagnostic tests is generally driven by technological advances because they promise shorter turnaround times and/or…”
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Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders by 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.

“…Purpose: Copy-number variation is a common source of genomic variation and an important genetic cause of disease. Microarray-based analysis of copy-number…”
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De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions by Mencacci, Niccolò E., Kamsteeg, Erik-Jan, Nakashima, Kosuke, R’Bibo, Lea, Lynch, David S., Balint, Bettina, Willemsen, Michèl A.A.P., Adams, Matthew E., Wiethoff, Sarah, Suzuki, Kazunori, Davies, Ceri H., Ng, Joanne, Meyer, Esther, Veneziano, Liana, Giunti, Paola, Hughes, Deborah, Raymond, F. Lucy, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Barzaghi, Chiara, Garavaglia, Barbara, Salpietro, Vincenzo, Hardy, John, Pittman, Alan M., Houlden, Henry, Kurian, Manju A., Kimura, Haruhide, Vissers, Lisenka E.L.M., Wood, Nicholas W., Bhatia, Kailash P.

“…Chorea is a hyperkinetic movement disorder resulting from dysfunction of striatal medium spiny neurons (MSNs), which form the main output projections from the…”
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Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders by Iqbal, Zafar, Vandeweyer, Geert, van der Voet, Monique, Waryah, Ali Muhammad, Zahoor, Muhammad Yasir, Besseling, Judith A, Roca, Laura Tomas, Vulto-van Silfhout, Anneke T, Nijhof, Bonnie, Kramer, Jamie M, Van der Aa, Nathalie, Ansar, Muhammad, Peeters, Hilde, Helsmoortel, Céline, Gilissen, Christian, Vissers, Lisenka E L M, Veltman, Joris A, de Brouwer, Arjan P M, Frank Kooy, R, Riazuddin, Sheikh, Schenck, Annette, van Bokhoven, Hans, Rooms, Liesbeth

“…AnkyrinG, encoded by the ANK3 gene, is involved in neuronal development and signaling. It has previously been implicated in bipolar disorder and schizophrenia…”
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TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function by 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

“…Recently, we marked TRIO for the first time as a candidate gene for intellectual disability (ID). Across diverse vertebrate species, TRIO is a well-conserved…”
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Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing by de Ligt, Joep, Boone, Philip M., Pfundt, Rolph, Vissers, Lisenka E.L.M., Richmond, Todd, Geoghegan, Joel, O'Moore, Kathleen, de Leeuw, Nicole, Shaw, Christine, Brunner, Han G., Lupski, James R., Veltman, Joris A., Hehir-Kwa, Jayne Y.

“…ABSTRACT Copy number variation (CNV) is a common source of genetic variation that has been implicated in many genomic disorders. This has resulted in the…”
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Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia by Oud, Manon S., Ramos, Liliana, O'Bryan, Moira K., McLachlan, Robert I., Okutman, Özlem, Viville, Stephane, Vries, Petra F., Smeets, Dominique F.C.M., Lugtenberg, Dorien, Hehir‐Kwa, Jayne Y., Gilissen, Christian, de Vorst, Maartje, Vissers, Lisenka E.L.M., Hoischen, Alexander, Meijerink, Aukje M., Fleischer, Kathrin, Veltman, Joris A., Noordam, Michiel J.

“…Microdeletions of the Y chromosome (YCMs), Klinefelter syndrome (47,XXY), and CFTR mutations are known genetic causes of severe male infertility, but the…”
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NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability by Bosch, Daniëlle G.M., Boonstra, F. Nienke, Gonzaga-Jauregui, Claudia, Xu, Mafei, de Ligt, Joep, Jhangiani, Shalini, Wiszniewski, Wojciech, Muzny, Donna M., Yntema, Helger G., Pfundt, Rolph, Vissers, Lisenka E.L.M., Spruijt, Liesbeth, Blokland, Ellen A.W., Chen, Chun-An, Lewis, Richard A., Tsai, Sophia Y., Gibbs, Richard A., Tsai, Ming-Jer, Lupski, James R., Zoghbi, Huda Y., Cremers, Frans P.M., de Vries, Bert B.A., Schaaf, Christian P.

“…Optic nerve atrophy and hypoplasia can be primary disorders or can result from trans-synaptic degeneration arising from cerebral visual impairment (CVI). Here…”
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Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis by Ockeloen, Charlotte W., Khandelwal, Kriti D., Dreesen, Karoline, Ludwig, Kerstin U., Sullivan, Robert, van Rooij, Iris A.L.M., Thonissen, Michelle, Swinnen, Steven, Phan, Milien, Conte, Federica, Ishorst, Nina, Gilissen, Christian, Roa Fuentes, Laury, van de Vorst, Maartje, Henkes, Arjen, Steehouwer, Marloes, van Beusekom, Ellen, Bloemen, Marjon, Vankeirsbilck, Bruno, Bergé, Stefaan, Hens, Greet, Schoenaers, Joseph, Vander Poorten, Vincent, Roosenboom, Jasmien, Verdonck, An, Devriendt, Koen, Roeleveldt, Nel, Jhangiani, Shalini N., Vissers, Lisenka E.L.M., Lupski, James R., de Ligt, Joep, Von den Hoff, Johannes W., Pfundt, Rolph, Brunner, Han G., Zhou, Huiqing, Dixon, Jill, Mangold, Elisabeth, van Bokhoven, Hans, Dixon, Michael J., Kleefstra, Tjitske, Hoischen, Alexander, Carels, Carine E.L.

“…We aimed to identify a novel genetic cause of tooth agenesis (TA) and/or orofacial clefting (OFC) by combining whole-exome sequencing (WES) and targeted…”
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De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome by Burrage, Lindsay C., Charng, Wu-Lin, Eldomery, Mohammad K., Willer, Jason R., Davis, Erica E., Lugtenberg, Dorien, Zhu, Wenmiao, Leduc, Magalie S., Akdemir, Zeynep C., Azamian, Mahshid, Zapata, Gladys, Hernandez, Patricia P., Schoots, Jeroen, de Munnik, Sonja A., Roepman, Ronald, Pearring, Jillian N., Jhangiani, Shalini, Katsanis, Nicholas, Vissers, Lisenka E.L.M., Brunner, Han G., Beaudet, Arthur L., Rosenfeld, Jill A., Muzny, Donna M., Gibbs, Richard A., Eng, Christine M., Xia, Fan, Lalani, Seema R., Lupski, James R., Bongers, Ernie M.H.F., Yang, Yaping

“…Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome known to be caused by biallelic loss-of-function mutations in one of…”
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Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome by Vissers, Lisenka E L M, 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

“…Noonan syndrome (NS) is a developmental disorder characterized by short stature, facial dysmorphisms and congenital heart defects. To date, all mutations known…”
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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome by Veltman, Joris A, Vissers, Lisenka E L M, van Ravenswaaij, Conny M A, Admiraal, Ronald, Hurst, Jane A, de Vries, Bert B A, Janssen, Irene M, van der Vliet, Walter A, Huys, Erik H L P G, de Jong, Pieter J, Hamel, Ben C J, Schoenmakers, Eric F P M, Brunner, Han G, van Kessel, Ad Geurts

“…CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping…”
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Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome by 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.

“…We studied two unrelated boys with intellectual disability (ID) and a striking facial resemblance suggestive of a hitherto unappreciated syndrome. Exome…”
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Recurrence and variability of germline EPCAM deletions in Lynch syndrome by Kuiper, Roland P., Vissers, Lisenka E.L.M., Venkatachalam, Ramprasath, Bodmer, Danielle, Hoenselaar, Eveline, Goossens, Monique, Haufe, Aline, Kamping, Eveline, Niessen, Renée C., Hogervorst, Frans B.L., Gille, Johan J.P., Redeker, Bert, Tops, Carli M.J., van Gijn, Marielle E., van den Ouweland, Ans M.W., Rahner, Nils, Steinke, Verena, Kahl, Philip, Holinski-Feder, Elke, Morak, Monika, Kloor, Matthias, Stemmler, Susanne, Betz, Beate, Hutter, Pierre, Bunyan, David J., Syngal, Sapna, Culver, Julie O., Graham, Tracy, Chan, Tsun L., Nagtegaal, Iris D., van Krieken, J. Han J.M, Schackert, Hans K., Hoogerbrugge, Nicoline, van Kessel, Ad Geurts, Ligtenberg, Marjolijn J.L.

“…Recently, we identified 3′ end deletions in the EPCAM gene as a novel cause of Lynch syndrome. These truncating EPCAM deletions cause allele‐specific…”
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Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture by Vissers, Lisenka E.L.M., Bhatt, Samarth S., Janssen, Irene M., Xia, Zhilian, Lalani, Seema R., Pfundt, Rolph, Derwinska, Katarzyna, de Vries, Bert B.A., Gilissen, Christian, Hoischen, Alexander, Nesteruk, Monika, Wisniowiecka-Kowalnik, Barbara, Smyk, Marta, Brunner, Han G., Cheung, Sau Wai, van Kessel, Ad Geurts, Veltman, Joris A., Stankiewicz, Pawel

“…Genomic copy number variation (CNV) plays a major role in various human diseases as well as in normal phenotypic variability. For some recurrent…”
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