A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology
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.
Published in Genetics in medicine (01.09.2017)
Published in Genetics in medicine (01.09.2017)
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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Gehin, Charlotte, Lone, Museer A, Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M, Gerkes, Erica H, Stegmann, Alexander Pa, López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R, Zamuner, Stefano, Abriata, Luciano A, Kunnathully, Vidya, Moeller, Brandon E, Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W, Pfundt, Rolph, Willemsen, Marjolein H, Schieving, Jolanda H, Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R, Beier, Christoph P, Larsen, Martin J, Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluís, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S, Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis Br, Bain, Jennifer M, Bhat, Musadiq A, Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L, Friez, Michael J, Richardson, Ellen B, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Gupta, Yask, Lim, Tze Y, Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E, Jakšić, Ana Marjia, McCabe, Brian D, De Los Rios, Paolo, Hornemann, Thorsten, D'Angelo, Giovanni, Gennarino, Vincenzo A
Published in The Journal of clinical investigation (15.05.2023)
Published in The Journal of clinical investigation (15.05.2023)
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Interprofessional simulation of acute care for nursing and medical students: interprofessional competencies and transfer to the workplace
Krielen, Pepijn, Meeuwsen, Malon, Tan, Edward C T H, Schieving, Jolanda H, Ruijs, Annelies J E M, Scherpbier, Nynke D
Published in BMC medical education (11.02.2023)
Published in BMC medical education (11.02.2023)
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Mutations in RARS cause hypomyelination
Wolf, Nicole I., Salomons, Gajja S., Rodenburg, Richard J., Pouwels, Petra J. W., Schieving, Jolanda H., Derks, Terry G. J., Fock, Johanna M., Rump, Patrick, van Beek, Daphne M., van der Knaap, Marjo S., Waisfisz, Quinten
Published in Annals of neurology (01.07.2014)
Published in Annals of neurology (01.07.2014)
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Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications
Schobers, Gaby, Schieving, Jolanda H, Yntema, Helger G, Pennings, Maartje, Pfundt, Rolph, Derks, Ronny, Hofste, Tom, de Wijs, Ilse, Wieskamp, Nienke, van den Heuvel, Simone, Galbany, Jordi Corominas, Gilissen, Christian, Nelen, Marcel, Brunner, Han G, Kleefstra, Tjitske, Kamsteeg, Erik-Jan, Willemsen, Michèl A. A. P, Vissers, Lisenka E. L. M
Published in Genome medicine (17.06.2022)
Published in Genome medicine (17.06.2022)
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Hypofractionation vs Conventional Radiation Therapy for Newly Diagnosed Diffuse Intrinsic Pontine Glioma: A Matched-Cohort Analysis
Janssens, Geert O., MD, Jansen, Marc H., MD, Lauwers, Selmer J., BSc, Nowak, Peter J., PhD, Oldenburger, Foppe R., MD, Bouffet, Eric, MD, Saran, Frank, MD, Kamphuis-van Ulzen, Karin, MD, van Lindert, Erik J., PhD, Schieving, Jolanda H., MD, Boterberg, Tom, PhD, Kaspers, Gertjan J., PhD, Span, Paul N., PhD, Kaanders, Johannes H., PhD, Gidding, Corrie E., PhD, Hargrave, Darren, MD
Published in International journal of radiation oncology, biology, physics (01.02.2013)
Published in International journal of radiation oncology, biology, physics (01.02.2013)
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The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene
Maas, Roderick P.P.W.M., MD, Schieving, Jolanda H., MD, Schouten, Meyke, MD, Kamsteeg, Erik-Jan, PhD, van de Warrenburg, Bart P.C., MD, PhD
Published in Pediatric neurology (01.06.2016)
Published in Pediatric neurology (01.06.2016)
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GRIN2A-related disorders: genotype and functional consequence predict phenotype
Strehlow, Vincent, Heyne, Henrike O, Vlaskamp, Danique R M, Marwick, Katie F M, Rudolf, Gabrielle, de Bellescize, Julitta, Biskup, Saskia, Brilstra, Eva H, Brouwer, Oebele F, Callenbach, Petra M C, Hentschel, Julia, Hirsch, Edouard, Kind, Peter C, Mignot, Cyril, Platzer, Konrad, Rump, Patrick, Skehel, Paul A, Wyllie, David J A, Hardingham, Giles E, van Ravenswaaij-Arts, Conny M A, Lesca, Gaetan, Lemke, Johannes R
Published in Brain (London, England : 1878) (01.01.2019)
Published in Brain (London, England : 1878) (01.01.2019)
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KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
Pennings, Maartje, Schouten, Meyke I, van Gaalen, Judith, Meijer, Rowdy P P, de Bot, Susanne T, Kriek, Marjolein, Saris, Christiaan G J, van den Berg, Leonard H, van Es, Michael A, Zuidgeest, Dick M H, Elting, Mariet W, van de Kamp, Jiddeke M, van Spaendonck-Zwarts, Karin Y, Die-Smulders, Christine de, Brilstra, Eva H, Verschuuren, Corien C, de Vries, Bert B A, Bruijn, Jacques, Sofou, Kalliopi, Duijkers, Floor A, Jaeger, B, Schieving, Jolanda H, van de Warrenburg, Bart P, Kamsteeg, Erik-Jan
Published in European journal of human genetics : EJHG (01.01.2020)
Published in European journal of human genetics : EJHG (01.01.2020)
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De novo SPAST mutations may cause a complex SPG4 phenotype
Schieving, Jolanda H, de Bot, Susanne T, van de Pol, Laura A, Wolf, Nicole I, Brilstra, Eva H, Frints, Suzanna G, van Gaalen, Judith, Misra-Isrie, Mala, Pennings, Maartje, Verschuuren-Bemelmans, Corien C, Kamsteeg, Erik-Jan, van de Warrenburg, Bart P, Willemsen, Michèl A
Published in Brain (London, England : 1878) (01.07.2019)
Published in Brain (London, England : 1878) (01.07.2019)
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De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
Reynhout, Sara, Jansen, Sandra, Haesen, Dorien, van Belle, Siska, de Munnik, Sonja A., Bongers, Ernie M.H.F., Schieving, Jolanda H., Marcelis, Carlo, Amiel, Jeanne, Rio, Marlène, Mclaughlin, Heather, Ladda, Roger, Sell, Susan, Kriek, Marjolein, Peeters-Scholte, Cacha M.P.C.D., Terhal, Paulien A., van Gassen, Koen L., Verbeek, Nienke, Henry, Sonja, Scott Schwoerer, Jessica, Malik, Saleem, Revencu, Nicole, Ferreira, Carlos R., Macnamara, Ellen, Braakman, Hilde M.H., Brimble, Elise, Ruzhnikov, Maura R.Z., Wagner, Matias, Harrer, Philip, Wieczorek, Dagmar, Kuechler, Alma, Tziperman, Barak, Barel, Ortal, de Vries, Bert B.A., Gordon, Christopher T., Janssens, Veerle, Vissers, Lisenka E.L.M.
Published in American journal of human genetics (03.01.2019)
Published in American journal of human genetics (03.01.2019)
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Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome
Drissen, Meggie M.C.M., Vos, Janet R., Collado Camps, Estel, Schuurs-Hoeijmakers, Janneke H.M., Schieving, Jolanda H., Hoogerbrugge, Nicoline
Published in European journal of medical genetics (01.08.2024)
Published in European journal of medical genetics (01.08.2024)
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Experience in a PHTS Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome
Bormans, Esther M G, Schuurs-Hoeijmakers, Janneke H M, van Setten, Petra, Hendricks, Linda A J, Drissen, Meggie M C M, Gotthardt, Martin, Claahsen-van der Grinten, Hedi L, Hoogerbrugge, Nicoline, Schieving, Jolanda H
Published in Journal of clinical research in pediatric endocrinology (08.08.2024)
Published in Journal of clinical research in pediatric endocrinology (08.08.2024)
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Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests
Ferreira, Elise A., Veenvliet, Annemarijne R.J., Engelke, Udo F.H., Kluijtmans, Leo A.J., Huigen, Marleen C.D.G., Hoegen, Brechtje, de Boer, Lonneke, de Vries, Maaike C., van Bon, Bregje W., Leenders, Erika, Cornelissen, Elisabeth A.M., Haaxma, Charlotte A., Schieving, Jolanda H., Rubio-Gozalbo, M. Estela, Körver-Keularts, Irene M.L.W., Marten, Lara M., Diegmann, Susann, Mourmans, Jeroen, Rennings, Alexander J.M., van Karnebeek, Clara D.M., Rodenburg, Richard J., Coene, Karlien L.M.
Published in Genetics in medicine (01.01.2023)
Published in Genetics in medicine (01.01.2023)
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Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring
Nagy, Dóra, Verheyen, Sarah, Wigby, Kristen M, Borovikov, Artem, Sharkov, Artem, Slegesky, Valerie, Larson, Austin, Fagerberg, Christina, Brasch-Andersen, Charlotte, Kibæk, Maria, Bader, Ingrid, Hernan, Rebecca, High, Frances A, Chung, Wendy K, Schieving, Jolanda H, Behunova, Jana, Smogavec, Mateja, Laccone, Franco, Witsch-Baumgartner, Martina, Zobel, Joachim, Duba, Hans-Christoph, Weis, Denisa
Published in Genes (15.01.2022)
Published in Genes (15.01.2022)
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De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
Reynhout, Sara, Jansen, Sandra, Haesen, Dorien, van Belle, Siska, de Munnik, Sonja A., Bongers, Ernie M.H.F., Schieving, Jolanda H., Marcelis, Carlo, Amiel, Jeanne, Rio, Marlène, Mclaughlin, Heather, Ladda, Roger, Sell, Susan, Kriek, Marjolein, Peeters-Scholte, Cacha M.P.C.D., Terhal, Paulien A., van Gassen, Koen L., Verbeek, Nienke, Henry, Sonja, Schwoerer, Jessica Scott, Malik, Saleem, Revencu, Nicole, Ferreira, Carlos R., Macnamara, Ellen, Braakman, Hilde M.H., Brimble, Elise, Ruzhnikov, Maura R.Z., Wagner, Matias, Harrer, Philip, Wieczorek, Dagmar, Kuechler, Alma, Tziperman, Barak, Barel, Ortal, de Vries, Bert B.A., Gordon, Christopher T., Janssens, Veerle, Vissers, Lisenka E.L.M.
Published in American journal of human genetics (07.02.2019)
Published in American journal of human genetics (07.02.2019)
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Palliative care for children: methodology for the development of a national clinical practice guideline
van Teunenbroek, Kim C, Kremer, Leontien C M, Verhagen, A A Eduard, Verheijden, Johannes M A, Rippen, Hester, Borggreve, Brigitt C M, Michiels, Erna M C, Mulder, Renée L
Published in BMC palliative care (01.12.2023)
Published in BMC palliative care (01.12.2023)
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Effect of vaccinations on seizure risk and disease course in Dravet syndrome
Verbeek, Nienke E, van der Maas, Nicoline A T, Sonsma, Anja C M, Ippel, Elly, Vermeer-de Bondt, Patricia E, Hagebeuk, Eveline, Jansen, Floor E, Geesink, Huibert H, Braun, Kees P, de Louw, Anton, Augustijn, Paul B, Neuteboom, Rinze F, Schieving, Jolanda H, Stroink, Hans, Vermeulen, R Jeroen, Nicolai, Joost, Brouwer, Oebele F, van Kempen, Marjan, de Kovel, Carolien G F, Kemmeren, Jeanet M, Koeleman, Bobby P C, Knoers, Nine V, Lindhout, Dick, Gunning, W Boudewijn, Brilstra, Eva H
Published in Neurology (18.08.2015)
Published in Neurology (18.08.2015)
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A Dutch paediatric palliative care guideline: a systematic review and evidence-based recommendations for symptom treatment
van Teunenbroek, Kim C, Mulder, Renée L, Ahout, Inge M L, Bindels-de Heus, Karen G C B, Delsman-van Gelder, Catharina M, Galimont-Collen, Annemie F S, de Groot, Marinka A R, Heitink-Polle, Katja M J, Looijestijn, Jeffry, Mensink, Maarten O, Mulder, Selma, Schieving, Jolanda H, Schouten-van Meeteren, Antoinette Y N, Verheijden, Johannes M A, Rippen, Hester, Borggreve, Brigitt C M, Kremer, Leontien C M, Verhagen, A A Eduard, Michiels, Erna M C
Published in BMC palliative care (13.03.2024)
Published in BMC palliative care (13.03.2024)
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