The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype
Nijmeijer, Stephanie C M, van den Born, L Ingeborg, Kievit, Anneke J A, Stepien, Karolina M, Langendonk, Janneke, Marchal, Jan Pieter, Roosing, Susanne, Wijburg, Frits A, Wagenmakers, Margreet A E M
Published in Orphanet journal of rare diseases (12.11.2019)
Published in Orphanet journal of rare diseases (12.11.2019)
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Whole exome sequencing of known eye genes reveals genetic causes for high myopia
Haarman, Annechien E G, Thiadens, Alberta A H J, van Tienhoven, Marianne, Loudon, Sjoukje E, de Klein, J E M M Annelies, Brosens, Erwin, Polling, Jan Roelof, van der Schoot, Vyne, Bouman, Arjan, Kievit, Anneke J A, Hoefsloot, Lies H, Klaver, Caroline C W, Verhoeven, Virginie J M
Published in Human molecular genetics (29.09.2022)
Published in Human molecular genetics (29.09.2022)
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Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene
Mazijk, Ralph, Haarman, Annechien E.G., Hoefsloot, Lies H., Polling, Jan R., Tienhoven, Marianne, Klaver, Caroline C.W., Verhoeven, Virginie J.M., Loudon, Sjoukje E., Thiadens, Alberta A.H.J., Kievit, Anneke J.A.
Published in Human mutation (01.03.2022)
Published in Human mutation (01.03.2022)
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Mindfulness-Based Stress Reduction in Pre-symptomatic Genetic Frontotemporal Dementia: A Pilot Study
Poos, Jackie M, van den Berg, Esther, Papma, Janne M, van der Tholen, Fleur C, Seelaar, Harro, Donker Kaat, Laura, Kievit, J Anneke, Tibben, Aad, van Swieten, John C, Jiskoot, Lize C
Published in Frontiers in psychiatry (27.04.2022)
Published in Frontiers in psychiatry (27.04.2022)
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Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations
Nellist, Mark, Brouwer, Rutger W W, Kockx, Christel E M, van Veghel-Plandsoen, Monique, Withagen-Hermans, Caroline, Prins-Bakker, Lida, Hoogeveen-Westerveld, Marianne, Mrsic, Alan, van den Berg, Mike M P, Koopmans, Anna E, de Wit, Marie-Claire, Jansen, Floor E, Maat-Kievit, Anneke J A, van den Ouweland, Ans, Halley, Dicky, de Klein, Annelies, van IJcken, Wilfred F J
Published in BMC medical genetics (25.02.2015)
Published in BMC medical genetics (25.02.2015)
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Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans
Rutten, Julie W., Boon, Elles M.J., Liem, Michael K., Dauwerse, Johannes G., Pont, Margot J., Vollebregt, Ellen, Maat-Kievit, Anneke J., Ginjaar, Hendrika B., Lakeman, Phillis, van Duinen, Sjoerd G., Terwindt, Gisela M., Lesnik Oberstein, Saskia A.J.
Published in Human mutation (01.11.2013)
Published in Human mutation (01.11.2013)
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Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency
Olgiati, Simone, Skorvanek, Matej, Quadri, Marialuisa, Minneboo, Michelle, Graafland, Josja, Breedveld, Guido J., Bonte, Ramon, Ozgur, Zeliha, van den Hout, Mirjam C.G.N., Schoonderwoerd, Kees, Verheijen, Frans W., van IJcken, Wilfred F.J., Chien, Hsin Fen, Barbosa, Egberto Reis, Chang, Hsiu-Chen, Lai, Szu-Chia, Yeh, Tu-Hsueh, Lu, Chin-Song, Wu-Chou, Yah-Huei, Kievit, Anneke J.A., Han, Vladimir, Gdovinova, Zuzana, Jech, Robert, Hofstra, Robert M.W., Ruijter, George J.G., Mandemakers, Wim, Bonifati, Vincenzo
Published in Movement disorders (01.07.2016)
Published in Movement disorders (01.07.2016)
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The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
Dingemans, Alexander J. M., Truijen, Kim M. G., van de Ven, Sam, Bernier, Raphael, Bongers, Ernie M. H. F., Bouman, Arjan, de Graaff – Herder, Laura, Eichler, Evan E., Gerkes, Erica H., De Geus, Christa M., van Hagen, Johanna M., Jansen, Philip R., Kerkhof, Jennifer, Kievit, Anneke J. A., Kleefstra, Tjitske, Maas, Saskia M., de Man, Stella A., McConkey, Haley, Patterson, Wesley G., Dobson, Amy T., Prijoles, Eloise J., Sadikovic, Bekim, Relator, Raissa, Stevenson, Roger E., Stumpel, Connie T. R. M., Heijligers, Malou, Stuurman, Kyra E., Löhner, Katharina, Zeidler, Shimriet, Lee, Jennifer A., Lindy, Amanda, Zou, Fanggeng, Tedder, Matthew L., Vissers, Lisenka E. L. M., de Vries, Bert B. A.
Published in Translational psychiatry (01.10.2022)
Published in Translational psychiatry (01.10.2022)
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Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)
Sun, Yu, Almomani, Rowida, Breedveld, Guido J., Santen, Gijs W.E., Aten, Emmelien, Lefeber, Dirk J., Hoff, Jorrit I., Brusse, Esther, Verheijen, Frans W., Verdijk, Rob M., Kriek, Marjolein, Oostra, Ben, Breuning, Martijn H., Losekoot, Monique, den Dunnen, Johan T., van de Warrenburg, Bart P., Maat-Kievit, Anneke J.A.
Published in Human mutation (01.05.2013)
Published in Human mutation (01.05.2013)
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A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis
Bouwkamp, Christian G., Kievit, Anneke J. A., Olgiati, Simone, Breedveld, Guido J., Coesmans, Michiel, Bonifati, Vincenzo, Kushner, Steven A.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.04.2017)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.04.2017)
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Mutations in TMEM230 are not a common cause of Parkinson's disease
Quadri, Marialuisa, Breedveld, Guido J., Chang, Hsiu‐Chen, Yeh, Tu‐Hsueh, Guedes, Leonor Correia, Toni, Vincenzo, Fabrizio, Edito, De Mari, Michele, Thomas, Astrid, Tassorelli, Cristina, Rood, Janneke P.M.A., Saddi, Valeria, Chien, Hsin Fen, Kievit, Anneke J.A., Boon, Agnita J.W., Stocchi, Fabrizio, Lopiano, Leonardo, Abbruzzese, Giovanni, Cortelli, Pietro, Meco, Giuseppe, Cossu, Giovanni, Barbosa, Egberto Reis, Ferreira, Joaquim J., Lu, Chin‐Song, Bonifati, Vincenzo
Published in Movement disorders (01.02.2017)
Published in Movement disorders (01.02.2017)
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Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred
Sas, Antonetta M.G., Di Fonzo, Alessio, Bakker, Stef L.M., Simons, Erik J., Oostra, Ben A., Maat-Kievit, Anneke J., Boon, Agnita J.W., Bonifati, Vincenzo
Published in Movement disorders (15.08.2010)
Published in Movement disorders (15.08.2010)
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Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects
Seong, Eunju, Insolera, Ryan, Dulovic, Marija, Kamsteeg, Erik‐Jan, Trinh, Joanne, Brüggemann, Norbert, Sandford, Erin, Li, Sheng, Ozel, Ayse Bilge, Li, Jun Z., Jewett, Tamison, Kievit, Anneke J. A., Münchau, Alexander, Shakkottai, Vikram, Klein, Christine, Collins, Catherine A., Lohmann, Katja, Warrenburg, Bart P., Burmeister, Margit
Published in Annals of neurology (01.06.2018)
Published in Annals of neurology (01.06.2018)
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Gray and white matter changes in presymptomatic genetic frontotemporal dementia: a longitudinal MRI study
Panman, Jessica L., Jiskoot, Lize C., Bouts, Mark J.R.J., Meeter, Lieke H.H., van der Ende, Emma L., Poos, Jackie M., Feis, Rogier A., Kievit, Anneke J.A., van Minkelen, Rick, Dopper, Elise G.P., Rombouts, Serge A.R.B., van Swieten, John C., Papma, Janne M.
Published in Neurobiology of aging (01.04.2019)
Published in Neurobiology of aging (01.04.2019)
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DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease
Olgiati, Simone, Quadri, Marialuisa, Fang, Mingyan, Rood, Janneke P.M.A., Saute, Jonas A., Chien, Hsin Fen, Bouwkamp, Christian G., Graafland, Josja, Minneboo, Michelle, Breedveld, Guido J., Zhang, Jianguo, Verheijen, Frans W., Boon, Agnita J.W., Kievit, Anneke J.A., Jardim, Laura Bannach, Mandemakers, Wim, Barbosa, Egberto Reis, Rieder, Carlos R.M., Leenders, Klaus L., Wang, Jun, Bonifati, Vincenzo
Published in Annals of neurology (01.02.2016)
Published in Annals of neurology (01.02.2016)
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Diagnostic exome sequencing in 266 Dutch patients with visual impairment
Haer-Wigman, Lonneke, van Zelst-Stams, Wendy Ag, Pfundt, Rolph, van den Born, L Ingeborgh, Klaver, Caroline Cw, Verheij, Joke Bgm, Hoyng, Carel B, Breuning, Martijn H, Boon, Camiel Jf, Kievit, Anneke J, Verhoeven, Virginie Jm, Pott, Jan Wr, Sallevelt, Suzanne Ceh, van Hagen, Johanna M, Plomp, Astrid S, Kroes, Hester Y, Lelieveld, Stefan H, Hehir-Kwa, Jayne Y, Castelein, Steven, Nelen, Marcel, Scheffer, Hans, Lugtenberg, Dorien, Cremers, Frans Pm, Hoefsloot, Lies, Yntema, Helger G
Published in European journal of human genetics : EJHG (01.05.2017)
Published in European journal of human genetics : EJHG (01.05.2017)
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De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy
Usmani, Muhammad A., Ahmed, Zubair M., Magini, Pamela, Pienkowski, Victor Murcia, Rasmussen, Kristen J., Hernan, Rebecca, Rasheed, Faiza, Hussain, Mureed, Shahzad, Mohsin, Lanpher, Brendan C., Niu, Zhiyv, Lim, Foong-Yen, Pippucci, Tommaso, Ploski, Rafal, Kraus, Verena, Matuszewska, Karolina, Palombo, Flavia, Kianmahd, Jessica, Martinez-Agosto, Julian A., Lee, Hane, Colao, Emma, Motazacker, M. Mahdi, Brigatti, Karlla W., Puffenberger, Erik G., Riazuddin, S. Amer, Gonzaga-Jauregui, Claudia, Chung, Wendy K., Wagner, Matias, Schultz, Matthew J., Seri, Marco, Kievit, Anneke J.A., Perrotti, Nicola, Klein Wassink-Ruiter, J.S., van Bokhoven, Hans, Riazuddin, Sheikh, Riazuddin, Saima
Published in American journal of human genetics (01.07.2021)
Published in American journal of human genetics (01.07.2021)
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Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation
Polla, Daniel L., Edmondson, Andrew C., Duvet, Sandrine, March, Michael E., Sousa, Ana Berta, Lehman, Anna, Niyazov, Dmitriy, van Dijk, Fleur, Demirdas, Serwet, van Slegtenhorst, Marjon A., Kievit, Anneke J.A., Schulz, Celine, Armstrong, Linlea, Bi, Xin, Rader, Daniel J., Izumi, Kosuke, Zackai, Elaine H., de Franco, Elisa, Jorge, Paula, Huffels, Sophie C., Hommersom, Marina, Ellard, Sian, Lefeber, Dirk J., Santani, Avni, Hand, Nicholas J., van Bokhoven, Hans, He, Miao, de Brouwer, Arjan P.M.
Published in American journal of human genetics (01.07.2021)
Published in American journal of human genetics (01.07.2021)
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