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CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
Wortmann, Saskia B., Ziętkiewicz, Szymon, Kousi, Maria, Szklarczyk, Radek, Haack, Tobias B., Gersting, Søren W., Muntau, Ania C., Rakovic, Aleksandar, Renkema, G. Herma, Rodenburg, Richard J., Strom, Tim M., Meitinger, Thomas, Rubio-Gozalbo, M. Estela, Chrusciel, Elzbieta, Distelmaier, Felix, Golzio, Christelle, Jansen, Joop H., van Karnebeek, Clara, Lillquist, Yolanda, Lücke, Thomas, Õunap, Katrin, Zordania, Riina, Yaplito-Lee, Joy, van Bokhoven, Hans, Spelbrink, Johannes N., Vaz, Frédéric M., Pras-Raves, Mia, Ploski, Rafal, Pronicka, Ewa, Klein, Christine, Willemsen, Michel A.A.P., de Brouwer, Arjan P.M., Prokisch, Holger, Katsanis, Nicholas, Wevers, Ron A.
Published in American journal of human genetics (05.02.2015)
Published in American journal of human genetics (05.02.2015)
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Journal Article
Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability
Kleefstra, Tjitske, Kramer, Jamie M., Neveling, Kornelia, Willemsen, Marjolein H., Koemans, Tom S., Vissers, Lisenka E.L.M., Wissink-Lindhout, Willemijn, Fenckova, Michaela, van den Akker, Willem M.R., Kasri, Nael Nadif, Nillesen, Willy M., Prescott, Trine, Clark, Robin D., Devriendt, Koenraad, van Reeuwijk, Jeroen, de Brouwer, Arjan P.M., Gilissen, Christian, Zhou, Huiqing, Brunner, Han G., Veltman, Joris A., Schenck, Annette, van Bokhoven, Hans
Published in American journal of human genetics (13.07.2012)
Published in American journal of human genetics (13.07.2012)
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Journal Article
Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia
Schuurs-Hoeijmakers, Janneke H.M., Geraghty, Michael T., Kamsteeg, Erik-Jan, Ben-Salem, Salma, de Bot, Susanne T., Nijhof, Bonnie, van de Vondervoort, Ilse I.G.M., van der Graaf, Marinette, Nobau, Anna Castells, Otte-Höller, Irene, Vermeer, Sascha, Smith, Amanda C., Humphreys, Peter, Schwartzentruber, Jeremy, Ali, Bassam R., Al-Yahyaee, Saeed A., Tariq, Said, Pramathan, Thachillath, Bayoumi, Riad, Kremer, Hubertus P.H., van de Warrenburg, Bart P., van den Akker, Willem M.R., Gilissen, Christian, Veltman, Joris A., Janssen, Irene M., Vulto-van Silfhout, Anneke T., van der Velde-Visser, Saskia, Lefeber, Dirk J., Diekstra, Adinda, Erasmus, Corrie E., Willemsen, Michèl A., Vissers, Lisenka E.L.M., Lammens, Martin, van Bokhoven, Hans, Brunner, Han G., Wevers, Ron A., Schenck, Annette, Al-Gazali, Lihadh, de Vries, Bert B.A., de Brouwer, Arjan P.M.
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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Journal Article
Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome
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.
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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Journal Article
Mutations in MED12 Cause X-Linked Ohdo Syndrome
Vulto-van Silfhout, Anneke T., de Vries, Bert B.A., van Bon, Bregje W.M., Hoischen, Alexander, Ruiterkamp-Versteeg, Martina, Gilissen, Christian, Gao, Fangjian, van Zwam, Marloes, Harteveld, Cornelis L., van Essen, Anthonie J., Hamel, Ben C.J., Kleefstra, Tjitske, Willemsen, Michèl A.A.P., Yntema, Helger G., van Bokhoven, Hans, Brunner, Han G., Boyer, Thomas G., de Brouwer, Arjan P.M.
Published in American journal of human genetics (07.03.2013)
Published in American journal of human genetics (07.03.2013)
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Journal Article
Neurologic Aspects of MECP2 Gene Duplication in Male Patients
Echenne, Bernard, Roubertie, Agathe, Lugtenberg, Dorien, Kleefstra, Titske, Hamel, Ben C.J., Van Bokhoven, Hans, Lacombe, Didier, Philippe, Christophe, Jonveaux, Philippe, de Brouwer, Arjan P.M.
Published in Pediatric neurology (01.09.2009)
Published in Pediatric neurology (01.09.2009)
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Journal Article
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies
Gardeitchik, Thatjana, Mohamed, Miski, Ruzzenente, Benedetta, Karall, Daniela, Guerrero-Castillo, Sergio, Dalloyaux, Daisy, van den Brand, Mariël, van Kraaij, Sanne, van Asbeck, Ellyze, Assouline, Zahra, Rio, Marlene, de Lonlay, Pascale, Scholl-Buergi, Sabine, Wolthuis, David F.G.J., Hoischen, Alexander, Rodenburg, Richard J., Sperl, Wolfgang, Urban, Zsolt, Brandt, Ulrich, Mayr, Johannes A., Wong, Sunnie, de Brouwer, Arjan P.M., Nijtmans, Leo, Munnich, Arnold, Rötig, Agnès, Wevers, Ron A., Metodiev, Metodi D., Morava, Eva
Published in American journal of human genetics (05.04.2018)
Published in American journal of human genetics (05.04.2018)
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Journal Article
TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function
Gómez-Herreros, Fernando, Schuurs-Hoeijmakers, Janneke H M, McCormack, Mark, Greally, Marie T, Rulten, Stuart, Romero-Granados, Rocío, Counihan, Timothy J, Chaila, Elijah, Conroy, Judith, Ennis, Sean, Delanty, Norman, Cortés-Ledesma, Felipe, de Brouwer, Arjan P M, Cavalleri, Gianpiero L, El-Khamisy, Sherif F, de Vries, Bert B A, Caldecott, Keith W
Published in Nature genetics (01.05.2014)
Published in Nature genetics (01.05.2014)
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Journal Article
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
Wortmann, Saskia B, Vaz, Frédéric M, Gardeitchik, Thatjana, Vissers, Lisenka E L M, Renkema, G Herma, Schuurs-Hoeijmakers, Janneke H M, Kulik, Wim, Lammens, Martin, Christin, Christin, Kluijtmans, Leo A J, Rodenburg, Richard J, Nijtmans, Leo G J, Grünewald, Anne, Klein, Christine, Gerhold, Joachim M, Kozicz, Tamas, van Hasselt, Peter M, Harakalova, Magdalena, Kloosterman, Wigard, Barić, Ivo, Pronicka, Ewa, Ucar, Sema Kalkan, Naess, Karin, Singhal, Kapil K, Krumina, Zita, Gilissen, Christian, van Bokhoven, Hans, Veltman, Joris A, Smeitink, Jan A M, Lefeber, Dirk J, Spelbrink, Johannes N, Wevers, Ron A, Morava, Eva, de Brouwer, Arjan P M
Published in Nature genetics (01.07.2012)
Published in Nature genetics (01.07.2012)
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Journal Article
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
Koolen, David A, Kramer, Jamie M, Neveling, Kornelia, Nillesen, Willy M, Moore-Barton, Heather L, Elmslie, Frances V, Toutain, Annick, Amiel, Jeanne, Malan, Valérie, Tsai, Anne Chun-Hui, Cheung, Sau Wai, Gilissen, Christian, Verwiel, Eugene T P, Martens, Sarah, Feuth, Ton, Bongers, Ernie M H F, de Vries, Petra, Scheffer, Hans, Vissers, Lisenka E L M, de Brouwer, Arjan P M, Brunner, Han G, Veltman, Joris A, Schenck, Annette, Yntema, Helger G, de Vries, Bert B A
Published in Nature genetics (01.06.2012)
Published in Nature genetics (01.06.2012)
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Journal Article
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder
Maia, Nuno, Potelle, Sven, Yildirim, Hamide, Duvet, Sandrine, Akula, Shyam K., Schulz, Celine, Wiame, Elsa, Gheldof, Alexander, O’Kane, Katherine, Lai, Abbe, Sermon, Karen, Proisy, Maïa, Loget, Philippe, Attié-Bitach, Tania, Quelin, Chloé, Fortuna, Ana Maria, Soares, Ana Rita, de Brouwer, Arjan P.M., Van Schaftingen, Emile, Nassogne, Marie-Cécile, Walsh, Christopher A., Stouffs, Katrien, Jorge, Paula, Jansen, Anna C., Foulquier, François
Published in American journal of human genetics (03.02.2022)
Published in American journal of human genetics (03.02.2022)
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Journal Article
Pathogenic Variants in GPC4 Cause Keipert Syndrome
Amor, David J., Stephenson, Sarah E.M., Mustapha, Mirna, Mensah, Martin A., Ockeloen, Charlotte W., Lee, Wei Shern, Tankard, Rick M., Phelan, Dean G., Shinawi, Marwan, de Brouwer, Arjan P.M., Pfundt, Rolph, Dowling, Cari, Toler, Tomi L., Sutton, V. Reid, Agolini, Emanuele, Rinelli, Martina, Capolino, Rossella, Martinelli, Diego, Zampino, Giuseppe, Dumić, Miroslav, Reardon, William, Shaw-Smith, Charles, Leventer, Richard J., Delatycki, Martin B., Kleefstra, Tjitske, Mundlos, Stefan, Mortier, Geert, Bahlo, Melanie, Allen, Nicola J., Lockhart, Paul J.
Published in American journal of human genetics (02.05.2019)
Published in American journal of human genetics (02.05.2019)
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Journal Article
Generation of induced pluripotent stem cell line (UCSFi001-A-77) carrying a biallelic frameshift variant in exon 4 of SGIP1 through CRISPR/Cas9
Fatima, Neelam, Dillen, Lieke, Hommersom, Marina P., Çepni, Ece, Fatima, Fareeha, van Beusekom, Ellen, Albert, Silvia, Ali Khan, Asma, de Brouwer, Arjan P.M., van Bokhoven, Hans
Published in Stem cell research (01.10.2024)
Published in Stem cell research (01.10.2024)
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Journal Article
Clinical Significance of De Novo and Inherited Copy-Number Variation
Vulto-van Silfhout, Anneke T., Hehir-Kwa, Jayne Y., van Bon, Bregje W.M., Schuurs-Hoeijmakers, Janneke H.M., Meader, Stephen, Hellebrekers, Claudia J.M., Thoonen, Ilse J.M., de Brouwer, Arjan P.M., Brunner, Han G., Webber, Caleb, Pfundt, Rolph, de Leeuw, Nicole, de Vries, Bert B.A.
Published in Human mutation (01.12.2013)
Published in Human mutation (01.12.2013)
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Journal Article
Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation
Lefeber, Dirk J., de Brouwer, Arjan P. M., Morava, Eva, Riemersma, Moniek, Schuurs-Hoeijmakers, Janneke H. M., Absmanner, Birgit, Verrijp, Kiek, van den Akker, Willem M. R., Huijben, Karin, Steenbergen, Gerry, van Reeuwijk, Jeroen, Jozwiak, Adam, Zucker, Nili, Lorber, Avraham, Lammens, Martin, Knopf, Carlos, van Bokhoven, Hans, Grünewald, Stephanie, Lehle, Ludwig, Kapusta, Livia, Mandel, Hanna, Wevers, Ron A.
Published in PLoS genetics (01.12.2011)
Published in PLoS genetics (01.12.2011)
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Journal Article
Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1
Dillen, Lieke, Fatima, Neelam, Hommersom, Marina P., Çepni, Ece, Fatima, Fareeha, van Beusekom, Ellen, Albert, Silvia, van Hagen, Johanna M., de Vries, Bert B.A., Khan, Asma Ali, de Brouwer, Arjan P.M., van Bokhoven, Hans
Published in Stem cell research (01.06.2024)
Published in Stem cell research (01.06.2024)
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Journal Article
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression
Donnio, Lise-Marie, Bidon, Baptiste, Hashimoto, Satoru, May, Melanie, Epanchintsev, Alexey, Ryan, Colm, Allen, William, Hackett, Anna, Gecz, Jozef, Skinner, Cindy, Stevenson, Roger E., de Brouwer, Arjan P.M., Coutton, Charles, Francannet, Christine, Jouk, Pierre-Simon, Schwartz, Charles E., Egly, Jean-Marc
Published in Human molecular genetics (01.06.2017)
Published in Human molecular genetics (01.06.2017)
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Journal Article
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders
Nabais Sá, Maria J., El Tekle, Geniver, de Brouwer, Arjan P.M., Sawyer, Sarah L., del Gaudio, Daniela, Parker, Michael J., Kanani, Farah, van den Boogaard, Marie-José H., van Gassen, Koen, Van Allen, Margot I., Wierenga, Klaas, Purcarin, Gabriela, Elias, Ellen Roy, Begtrup, Amber, Keller-Ramey, Jennifer, Bernasocchi, Tiziano, van de Wiel, Laurens, Gilissen, Christian, Venselaar, Hanka, Pfundt, Rolph, Vissers, Lisenka E.L.M., Theurillat, Jean-Philippe P., de Vries, Bert B.A.
Published in American journal of human genetics (05.03.2020)
Published in American journal of human genetics (05.03.2020)
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Journal Article
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay
Ansar, Muhammad, Riazuddin, Saima, Sarwar, Muhammad Tahir, Makrythanasis, Periklis, Paracha, Sohail Aziz, Iqbal, Zafar, Khan, Jamshed, Assir, Muhammad Zaman, Hussain, Mureed, Razzaq, Attia, Polla, Daniel Lôpo, Taj, Abid Sohail, Holmgren, Asbjørn, Batool, Naila, Misceo, Doriana, Iwaszkiewicz, Justyna, de Brouwer, Arjan P.M., Guipponi, Michel, Hanquinet, Sylviane, Zoete, Vincent, Santoni, Federico A., Frengen, Eirik, Ahmed, Jawad, Riazuddin, Sheikh, van Bokhoven, Hans, Antonarakis, Stylianos E.
Published in Genetics in medicine (01.07.2018)
Published in Genetics in medicine (01.07.2018)
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Journal Article