Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA
Doornbos, Cenna, van Beek, Ronald, Bongers, Ernie M H F, Lugtenberg, Dorien, Klaren, Peter H M, Vissers, Lisenka E L M, Roepman, Ronald, Oud, Machteld M
Published in European journal of human genetics : EJHG (01.11.2021)
Published in European journal of human genetics : EJHG (01.11.2021)
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Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
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, Prof Dr, Joris A, Hehir-Kwa, Jayne Y
Published in Genetics in medicine (01.06.2017)
Published in Genetics in medicine (01.06.2017)
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Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males
Van Esch, Hilde, Bauters, Marijke, Ignatius, Jaakko, Jansen, Mieke, Raynaud, Martine, Hollanders, Karen, Lugtenberg, Dorien, Bienvenu, Thierry, Jensen, Lars Riff, Gécz, Jozef, Moraine, Claude, Marynen, Peter, Fryns, Jean-Pierre, Froyen, Guy
Published in American journal of human genetics (01.09.2005)
Published in American journal of human genetics (01.09.2005)
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Journal Article
Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy
Roosing, Susanne, Lamers, Ideke J.C., de Vrieze, Erik, van den Born, L. Ingeborgh, Lambertus, Stanley, Arts, Heleen H., Boldt, Karsten, de Baere, Elfride, Klaver, Caroline C.W., Coppieters, Frauke, Koolen, David A., Lugtenberg, Dorien, Neveling, Kornelia, van Reeuwijk, Jeroen, Ueffing, Marius, van Beersum, Sylvia E.C., Zonneveld-Vrieling, Marijke N., Peters, Theo A., Hoyng, Carel B., Kremer, Hannie, Hetterschijt, Lisette, Letteboer, Stef J.F., van Wijk, Erwin, Roepman, Ronald, den Hollander, Anneke I., Cremers, Frans P.M.
Published in American journal of human genetics (07.08.2014)
Published in American journal of human genetics (07.08.2014)
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Journal Article
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects
Haer-Wigman, Lonneke, den Ouden, Amber, Derks, Ronny, van Genderen, Maria M, Lugtenberg, Dorien, Verheij, Joke, Vijzelaar, Raymon, Yntema, Helger G, Vissers, Lisenka E L M, Neveling, Kornelia
Published in Npj genomic medicine (04.05.2024)
Published in Npj genomic medicine (04.05.2024)
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Journal Article
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA
Haer-Wigman, Lonneke, den Ouden, Amber, van Genderen, Maria M, Kroes, Hester Y, Verheij, Joke, Smailhodzic, Dzenita, Hoekstra, Attje S, Vijzelaar, Raymon, Blom, Jan, Derks, Ronny, Tjon-Pon-Fong, Menno, Yntema, Helger G, Nelen, Marcel R, Vissers, Lisenka E L M, Lugtenberg, Dorien, Neveling, Kornelia
Published in Npj genomic medicine (09.11.2022)
Published in Npj genomic medicine (09.11.2022)
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Journal Article
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes
Van De Weghe, Julie C., Giordano, Jessica L., Mathijssen, Inge B., Mojarrad, Majid, Lugtenberg, Dorien, Miller, Caitlin V., Dempsey, Jennifer C., Mohajeri, Mahsa Sadat Asl, van Leeuwen, Elizabeth, Pajkrt, Eva, Klaver, Caroline C.W., Houlden, Henry, Eslahi, Atieh, Waters, Aoife M., Bamshad, Michael J., Nickerson, Deborah A., Aggarwal, Vimla S., de Vries, Bert B.A., Maroofian, Reza, Doherty, Dan
Published in HGG advances (14.01.2021)
Published in HGG advances (14.01.2021)
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Journal Article
Neurologic Aspects of MECP2 Gene Duplication in Male Patients
Echenne, Bernard, MD, Roubertie, Agathe, MD, PhD, Lugtenberg, Dorien, PhD, Kleefstra, Titske, MD, PhD, Hamel, Ben C.J., MD, PhD, Van Bokhoven, Hans, PhD, Lacombe, Didier, MD, PhD, Philippe, Christophe, PhD, Jonveaux, Philippe, MD, PhD, de Brouwer, Arjan P.M., PhD
Published in Pediatric neurology (01.09.2009)
Published in Pediatric neurology (01.09.2009)
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Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome
Peters, Bram, Schuurs-Hoeijmakers, Janneke H M, Fuijkschot, Joris, Reimer, Annette, van der Flier, Michiel, Lugtenberg, Dorien, Hoppenreijs, Esther P A H
Published in Pediatric Rheumatology (25.05.2016)
Published in Pediatric Rheumatology (25.05.2016)
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Journal Article
Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls
Kroes, Hester Y, Hochstenbach, Ron, Nievelstein, Rutger A J, Den Hollander, Anneke I, Lugtenberg, Dorien T, Van Nieuwenhuizen, Onno, Lindhout, Dick, Poot, Martin
Published in Clinical dysmorphology (01.07.2011)
Published in Clinical dysmorphology (01.07.2011)
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Journal Article
hPop5, a Protein Subunit of the Human RNase MRP and RNase P Endoribonucleases
van Eenennaam, H, Lugtenberg, D, Vogelzangs, J H, van Venrooij, W J, Pruijn, G J
Published in The Journal of biological chemistry (24.08.2001)
Published in The Journal of biological chemistry (24.08.2001)
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Journal Article
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease
Sangermano, Riccardo, Khan, Mubeen, Cornelis, Stéphanie S, Richelle, Valerie, Albert, Silvia, Garanto, Alejandro, Elmelik, Duaa, Qamar, Raheel, Lugtenberg, Dorien, van den Born, L Ingeborgh, Collin, Rob W J, Cremers, Frans P M
Published in Genome research (01.01.2018)
Published in Genome research (01.01.2018)
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Journal Article
A Missense Mutation in the Extracellular Domain of α ENaC Causes Liddle Syndrome
Salih, Mahdi, Gautschi, Ivan, van Bemmelen, Miguel X, Di Benedetto, Michael, Brooks, Alice S, Lugtenberg, Dorien, Schild, Laurent, Hoorn, Ewout J
Published in Journal of the American Society of Nephrology (01.11.2017)
Published in Journal of the American Society of Nephrology (01.11.2017)
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Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness
Schlingmann, Karl P, Renigunta, Aparna, Hoorn, Ewout J, Forst, Anna-Lena, Renigunta, Vijay, Atanasov, Velko, Mahendran, Sinthura, Barakat, Tahsin Stefan, Gillion, Valentine, Godefroid, Nathalie, Brooks, Alice S, Lugtenberg, Dorien, Lake, Jennifer, Debaix, Huguette, Rudin, Christoph, Knebelmann, Bertrand, Tellier, Stephanie, Rousset-Rouvière, Caroline, Viering, Daan, de Baaij, Jeroen H F, Weber, Stefanie, Palygin, Oleg, Staruschenko, Alexander, Kleta, Robert, Houillier, Pascal, Bockenhauer, Detlef, Devuyst, Olivier, Vargas-Poussou, Rosa, Warth, Richard, Zdebik, Anselm A, Konrad, Martin
Published in Journal of the American Society of Nephrology (01.06.2021)
Published in Journal of the American Society of Nephrology (01.06.2021)
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A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
Neveling, Kornelia, Feenstra, Ilse, Gilissen, Christian, Hoefsloot, Lies H., Kamsteeg, Erik-Jan, Mensenkamp, Arjen R., Rodenburg, Richard J. T., Yntema, Helger G., Spruijt, Liesbeth, Vermeer, Sascha, Rinne, Tuula, van Gassen, Koen L., Bodmer, Danielle, Lugtenberg, Dorien, de Reuver, Rick, Buijsman, Wendy, Derks, Ronny C., Wieskamp, Nienke, van den Heuvel, Bert, Ligtenberg, Marjolijn J.L., Kremer, Hannie, Koolen, David A., van de Warrenburg, Bart P.C., Cremers, Frans P.M., Marcelis, Carlo L.M., Smeitink, Jan A.M., Wortmann, Saskia B., van Zelst-Stams, Wendy A.G., Veltman, Joris A., Brunner, Han G., Scheffer, Hans, Nelen, Marcel R.
Published in Human mutation (01.12.2013)
Published in Human mutation (01.12.2013)
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Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency
van Rijn, Jorik M., Ardy, Rico Chandra, Kuloğlu, Zarife, Härter, Bettina, van Haaften-Visser, Désirée Y., van der Doef, Hubert P.J., van Hoesel, Marliek, Kansu, Aydan, van Vugt, Anke H.M., Thian, Marini, Kokke, Freddy T.M., Krolo, Ana, Başaran, Meryem Keçeli, Kaya, Neslihan Gurcan, Aksu, Aysel Ünlüsoy, Dalgıç, Buket, Ozcay, Figen, Baris, Zeren, Kain, Renate, Stigter, Edwin C.A., Lichtenbelt, Klaske D., Massink, Maarten P.G., Duran, Karen J., Verheij, Joke B.G.M, Lugtenberg, Dorien, Nikkels, Peter G.J., Brouwer, Henricus G.F., Verkade, Henkjan J., Scheenstra, René, Spee, Bart, Nieuwenhuis, Edward E.S., Coffer, Paul J., Janecke, Andreas R., van Haaften, Gijs, Houwen, Roderick H.J., Müller, Thomas, Middendorp, Sabine, Boztug, Kaan
Published in Gastroenterology (New York, N.Y. 1943) (01.07.2018)
Published in Gastroenterology (New York, N.Y. 1943) (01.07.2018)
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Journal Article
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants
Runhart, Esmee H, Sangermano, Riccardo, Cornelis, Stéphanie S, Verheij, Joke B G M, Plomp, Astrid S, Boon, Camiel J F, Lugtenberg, Dorien, Roosing, Susanne, Bax, Nathalie M, Blokland, Ellen A W, Jacobs-Camps, Marlie H M, van der Velde-Visser, Saskia D, Pott, Jan-Willem R, Rohrschneider, Klaus, Thiadens, Alberta A H J, Klaver, Caroline C W, van den Born, L Ingeborgh, Hoyng, Carel B, Cremers, Frans P M
Published in Investigative ophthalmology & visual science (02.07.2018)
Published in Investigative ophthalmology & visual science (02.07.2018)
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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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Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia
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.
Published in Human mutation (01.11.2017)
Published in Human mutation (01.11.2017)
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