Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion

por Schene, Imre F., Kalinina Ayuso, Viera, de Sain-van der Velden, Monique, van Gassen, Koen L. I., Cuppen, Inge, van Hasselt, Peter M., Visser, Gepke
Publicado no JIMD Rep (2015)

The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course

por Kuper, Willemijn F. E., van Alfen, Claudia, van Eck, Linda, de Man, Stella A., Willemsen, Marjolein H., van Gassen, Koen L. I., Losekoot, Monique, van Hasselt, Peter M.
Publicado no JIMD Rep (2020)

Whole-exome sequencing in intellectual disability; cost before and after a diagnosis

por Vrijenhoek, Terry, Middelburg, Eline M., Monroe, Glen R., van Gassen, Koen L. I., Geenen, Joost W., Hövels, Anke M., Knoers, Nine V., van Amstel, Hans Kristian Ploos, Frederix, Gerardus W. J.
Publicado no Eur J Hum Genet (2018)

Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses

por Scalais, Emmanuel, Osterheld, Elise, Geron, Christine, Pierron, Charlotte, Chafai, Ronit, Schlesser, Vincent, Borde, Patricia, Regal, Luc, Laeremans, Hilde, van Gassen, Koen L. I., van den Heuvel, L. Bert, De Meirleir, Linda
Publicado no JIMD Rep (2019)

A New Approach for Fast Metabolic Diagnostics in CMAMMA

por de Sain-van der Velden, Monique G. M., van der Ham, Maria, Jans, Judith J., Visser, Gepke, Prinsen, Hubertus C. M. T., Verhoeven-Duif, Nanda M., van Gassen, Koen L. I., van Hasselt, Peter M.
Publicado no JIMD Rep (2016)

Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability

por Willems, Anke P., Gundogdu, Mehmet, Kempers, Marlies J. E., Giltay, Jacques C., Pfundt, Rolph, Elferink, Martin, Loza, Bettina F., Fuijkschot, Joris, Ferenbach, Andrew T., van Gassen, Koen L. I., van Aalten, Daan M. F., Lefeber, Dirk J.
Publicado no J Biol Chem (2017)

Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

por Terhal, Paulien A., Vlaar, Judith M., Middelkamp, Sjors, Nievelstein, Rutger A. J., Nikkels, Peter G. J., Ross, Jamila, Créton, Marijn, Bos, Jeroen W., Voskuil-Kerkhof, Elsbeth S. M., Cuppen, Edwin, Knoers, Nine, van Gassen, Koen L. I.
Publicado no Eur J Hum Genet (2019)

Beneficial Effect of BH(4) Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12

por de Sain-van der Velden, Monique G. M., Kuper, Willemijn F. E., Kuijper, Marie-Anne, van Kats, Lenneke A. T., Prinsen, Hubertus C. M. T., Balemans, Astrid C. J., Visser, Gepke, van Gassen, Koen L. I., van Hasselt, Peter M.
Publicado no JIMD Rep (2018)

Expression Profiling after Prolonged Experimental Febrile Seizures in Mice Suggests Structural Remodeling in the Hippocampus

por Jongbloets, Bart C., van Gassen, Koen L. I., Kan, Anne A., Olde Engberink, Anneke H. O., de Wit, Marina, Wolterink-Donselaar, Inge G., Groot Koerkamp, Marian J. A., van Nieuwenhuizen, Onno, Holstege, Frank C. P., de Graan, Pierre N. E.
Publicado no PLoS One (2015)

Mutations in HIVEP2 are associated with developmental delay, intellectual disability and dysmorphic features

por Steinfeld, Hallie, Cho, Megan T., Retterer, Kyle, Person, Rick, Schaefer, G. Bradley, Danylchuk, Noelle, Malik, Saleem, Wechsler, Stephanie Burns, Wheeler, Patricia G., van Gassen, Koen L.I., Terhal, P.A., Verhoeven, Virginie J.M., van Slegtenhorst, Marjon A., Monaghan, Kristin G., Henderson, Lindsay B., Chung, Wendy K.
Publicado no Neurogenetics (2016)

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

por Guella, Ilaria, McKenzie, Marna B., Evans, Daniel M., Buerki, Sarah E., Toyota, Eric B., Van Allen, Margot I., Suri, Mohnish, Elmslie, Frances, Simon, Marleen E.H., van Gassen, Koen L.I., Héron, Delphine, Keren, Boris, Nava, Caroline, Connolly, Mary B., Demos, Michelle, Farrer, Matthew J.
Publicado no Am J Hum Genet (2017)

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

por Hempel, Maja, Cremer, Kirsten, Ockeloen, Charlotte W., Lichtenbelt, Klaske D., Herkert, Johanna C., Denecke, Jonas, Haack, Tobias B., Zink, Alexander M., Becker, Jessica, Wohlleber, Eva, Johannsen, Jessika, Alhaddad, Bader, Pfundt, Rolph, Fuchs, Sigrid, Wieczorek, Dagmar, Strom, Tim M., van Gassen, Koen L.I., Kleefstra, Tjitske, Kubisch, Christian, Engels, Hartmut, Lessel, Davor
Publicado no Am J Hum Genet (2015)

Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics

por Kerkhofs, Marten H. P. M., Haijes, Hanneke A., Willemsen, A. Marcel, van Gassen, Koen L. I., van der Ham, Maria, Gerrits, Johan, de Sain-van der Velden, Monique G. M., Prinsen, Hubertus C. M. T., van Deutekom, Hanneke W. M., van Hasselt, Peter M., Verhoeven-Duif, Nanda M., Jans, Judith J. M.
Publicado no Metabolites (2020)

Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita

por Jongmans, Marjolijn C.J., Verwiel, Eugene T.P., Heijdra, Yvonne, Vulliamy, Tom, Kamping, Eveline J., Hehir-Kwa, Jayne Y., Bongers, Ernie M.H.F., Pfundt, Rolph, van Emst, Liesbeth, van Leeuwen, Frank N., van Gassen, Koen L.I., Geurts van Kessel, Ad, Dokal, Inderjeet, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L., Kuiper, Roland P.
Publicado em 2012

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

por Tanaka, Akemi J., Cho, Megan T., Millan, Francisca, Juusola, Jane, Retterer, Kyle, Joshi, Charuta, Niyazov, Dmitriy, Garnica, Adolfo, Gratz, Edward, Deardorff, Matthew, Wilkins, Alisha, Ortiz-Gonzalez, Xilma, Mathews, Katherine, Panzer, Karin, Brilstra, Eva, van Gassen, Koen L.I., Volker-Touw, Catharina M.L., van Binsbergen, Ellen, Sobreira, Nara, Hamosh, Ada, McKnight, Dianalee, Monaghan, Kristin G., Chung, Wendy K.
Publicado no Am J Hum Genet (2015)

Aminoacyl-tRNA synthetase deficiencies in search of common themes

por Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G. J., van Gassen, Koen L. I., Terheggen-Lagro, Suzanne W. J., van der Crabben, Saskia N., Hoeks, Sanne E., Niers, Laetitia E. M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, Roderick H. J., Mulder, Margot F., van Hasselt, Peter M.
Publicado no Genet Med (2018)

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

por Fregeau, Brieana, Kim, Bum Jun, Hernández-García, Andrés, Jordan, Valerie K., Cho, Megan T., Schnur, Rhonda E., Monaghan, Kristin G., Juusola, Jane, Rosenfeld, Jill A., Bhoj, Elizabeth, Zackai, Elaine H., Sacharow, Stephanie, Barañano, Kristin, Bosch, Daniëlle G.M., de Vries, Bert B.A., Lindstrom, Kristin, Schroeder, Audrey, James, Philip, Kulch, Peggy, Lalani, Seema R., van Haelst, Mieke M., van Gassen, Koen L.I., van Binsbergen, Ellen, Barkovich, A. James, Scott, Daryl A., Sherr, Elliott H.
Publicado no Am J Hum Genet (2016)

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

por Houge, Gunnar, Haesen, Dorien, Vissers, Lisenka E.L.M., Mehta, Sarju, Parker, Michael J., Wright, Michael, Vogt, Julie, McKee, Shane, Tolmie, John L., Cordeiro, Nuno, Kleefstra, Tjitske, Willemsen, Marjolein H., Reijnders, Margot R.F., Berland, Siren, Hayman, Eli, Lahat, Eli, Brilstra, Eva H., van Gassen, Koen L.I., Zonneveld-Huijssoon, Evelien, de Bie, Charlotte I., Hoischen, Alexander, Eichler, Evan E., Holdhus, Rita, Steen, Vidar M., Døskeland, Stein Ove, Hurles, Matthew E., FitzPatrick, David R., Janssens, Veerle
Publicado no J Clin Invest (2015)

Phenotype Delineation of ZNF462 related syndrome

por Kruszka, Paul, Hu, Tommy, Hong, Sungkook, Signer, Rebecca, Cogné, Benjamin, Isidor, Betrand, Mazzola, Sarah E., Giltay, Jacques C., van Gassen, Koen L.I., England, Eleina M., Pais, Lynn, Ockeloen, Charlotte W., Sanchez-Lara, Pedro A., Kinning, Esther, Adams, Darius J, Treat, Kayla, Torres-Martinez, Wilfredo, Bedeschi, Maria Francesca, Iascone, Maria, Blaney, Stephanie, Bell, Oliver, Tan, Tiong Y., Delrue, Marie-Ange, Jurgens, Julie, Barry, Brenda J., Engle, Elizabeth C., Savage, Sarah K., Fleischer, Nicole, Martinez-Agosto, Julian A., Boycott, Kym, Zackai, Elaine H., Muenke, Maximilian
Publicado no Am J Med Genet A (2019)

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

por Snijders Blok, Lot, Kleefstra, Tjitske, Venselaar, Hanka, Maas, Saskia, Kroes, Hester Y., Lachmeijer, Augusta M.A., van Gassen, Koen L.I., Firth, Helen V., Tomkins, Susan, Bodek, Simon, Õunap, Katrin, Wojcik, Monica H., Cunniff, Christopher, Bergstrom, Katherine, Powis, Zoë, Tang, Sha, Shinde, Deepali N., Au, Catherine, Iglesias, Alejandro D., Izumi, Kosuke, Leonard, Jacqueline, Abou Tayoun, Ahmad, Baker, Samuel W., Tartaglia, Marco, Niceta, Marcello, Dentici, Maria Lisa, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Vitobello, Antonio, Faivre, Laurence, Philippe, Christophe, Gilissen, Christian, Wiel, Laurens, Pfundt, Rolph, Deriziotis, Pelagia, Brunner, Han G., Fisher, Simon E.
Publicado no Am J Hum Genet (2019)