Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
Abbasi-Moheb, Lia, Mertel, Sara, Gonsior, Melanie, Nouri-Vahid, Leyla, Kahrizi, Kimia, Cirak, Sebahattin, Wieczorek, Dagmar, Motazacker, M. Mahdi, Esmaeeli-Nieh, Sahar, Cremer, Kirsten, Weißmann, Robert, Tzschach, Andreas, Garshasbi, Masoud, Abedini, Seyedeh S., Najmabadi, Hossein, Ropers, H. Hilger, Sigrist, Stephan J., Kuss, Andreas W.
Published in American journal of human genetics (04.05.2012)
Published in American journal of human genetics (04.05.2012)
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Journal Article
ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions
Hu, Hao, Eggers, Katinka, Chen, Wei, Garshasbi, Masoud, Motazacker, M. Mahdi, Wrogemann, Klaus, Kahrizi, Kimia, Tzschach, Andreas, Hosseini, Masoumeh, Bahman, Ideh, Hucho, Tim, Mühlenhoff, Martina, Gerardy-Schahn, Rita, Najmabadi, Hossein, Ropers, H. Hilger, Kuss, Andreas W.
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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Journal Article
Expanding the spectrum of CEP55‐associated disease to viable phenotypes
Barrie, Elizabeth S., Overwater, Eline, Haelst, Mieke M., Motazacker, M. Mahdi, Truxal, Kristen V., Crist, Erin, Mostafavi, Roya, Pivnick, Eniko K., Choudhri, Asim F., Narumanchi, TaraChandra, Castelluccio, Valerie, Walsh, Laurence E., Garganta, Cheryl, Gastier‐Foster, Julie M.
Published in American journal of medical genetics. Part A (01.05.2020)
Published in American journal of medical genetics. Part A (01.05.2020)
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Journal Article
High density lipoprotein as a source of cholesterol for adrenal steroidogenesis: a study in individuals with low plasma HDL-C
Bochem, Andrea E., Holleboom, Adriaan G., Romijn, Johannes A., Hoekstra, Menno, Dallinga-Thie, Geesje M., Motazacker, Mahdi M., Hovingh, G.Kees, Kuivenhoven, Jan A., Stroes, Erik S.G.
Published in Journal of lipid research (01.06.2013)
Published in Journal of lipid research (01.06.2013)
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Journal Article
BOD1 Is Required for Cognitive Function in Humans and Drosophila
Esmaeeli-Nieh, Sahar, Fenckova, Michaela, Porter, Iain M, Motazacker, M Mahdi, Nijhof, Bonnie, Castells-Nobau, Anna, Asztalos, Zoltan, Weißmann, Robert, Behjati, Farkhondeh, Tzschach, Andreas, Felbor, Ute, Scherthan, Harry, Sayfati, Seyed Morteza, Ropers, H Hilger, Kahrizi, Kimia, Najmabadi, Hossein, Swedlow, Jason R, Schenck, Annette, Kuss, Andreas W
Published in PLoS genetics (11.05.2016)
Published in PLoS genetics (11.05.2016)
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Journal Article
Exome Sequencing in Suspected Monogenic Dyslipidemias
Stitziel, Nathan O, Peloso, Gina M, Abifadel, Marianne, Cefalu, Angelo B, Fouchier, Sigrid, Motazacker, M Mahdi, Tada, Hayato, Larach, Daniel B, Awan, Zuhier, Haller, Jorge F, Pullinger, Clive R, Varret, Mathilde, Rabès, Jean-Pierre, Noto, Davide, Tarugi, Patrizia, Kawashiri, Masa-aki, Nohara, Atsushi, Yamagishi, Masakazu, Risman, Marjorie, Deo, Rahul, Ruel, Isabelle, Shendure, Jay, Nickerson, Deborah A, Wilson, James G, Rich, Stephen S, Gupta, Namrata, Farlow, Deborah N, Neale, Benjamin M, Daly, Mark J, Kane, John P, Freeman, Mason W, Genest, Jacques, Rader, Daniel J, Mabuchi, Hiroshi, Kastelein, John J.P, Hovingh, G Kees, Averna, Maurizio R, Gabriel, Stacey, Boileau, Catherine, Kathiresan, Sekar
Published in Circulation. Cardiovascular genetics (01.04.2015)
Published in Circulation. Cardiovascular genetics (01.04.2015)
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Journal Article
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
Levy, Michael A., Beck, David B., Metcalfe, Kay, Douzgou, Sofia, Sithambaram, Sivagamy, Cottrell, Trudie, Ansar, Muhammad, Kerkhof, Jennifer, Mignot, Cyril, Nougues, Marie-Christine, Keren, Boris, Moore, Hannah W., Oegema, Renske, Giltay, Jacques C., Simon, Marleen, van Jaarsveld, Richard H., Bos, Jessica, van Haelst, Mieke, Motazacker, M. Mahdi, Boon, Elles M. J., Santen, Gijs W. E., Ruivenkamp, Claudia A. L., Alders, Marielle, Luperchio, Teresa Romeo, Boukas, Leandros, Ramsey, Keri, Narayanan, Vinodh, Schaefer, G. Bradley, Bonasio, Roberto, Doheny, Kimberly F., Stevenson, Roger E., Banka, Siddharth, Sadikovic, Bekim, Fahrner, Jill A.
Published in Npj genomic medicine (08.11.2021)
Published in Npj genomic medicine (08.11.2021)
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Journal Article
Adrenal Function in females with low plasma HDL-C due to mutations in ABCA1 and LCAT
Bochem, Andrea E, Holleboom, Adriaan G, Romijn, Johannes A, Hoekstra, Menno, Dallinga, Geesje M, Motazacker, Mahdi M, Hovingh, G Kees, Kuivenhoven, Jan A, Stroes, Erik S G
Published in PloS one (19.05.2014)
Published in PloS one (19.05.2014)
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Journal Article
Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
Levy, Michael A., Beck, David B., Metcalfe, Kay, Douzgou, Sofia, Sithambaram, Sivagamy, Cottrell, Trudie, Ansar, Muhammad, Kerkhof, Jennifer, Mignot, Cyril, Nougues, Marie-Christine, Keren, Boris, Moore, Hannah W., Oegema, Renske, Giltay, Jacques C., Simon, Marleen, van Jaarsveld, Richard H., Bos, Jessica, van Haelst, Mieke, Motazacker, M. Mahdi, Boon, Elles M. J., Santen, Gijs W. E., Ruivenkamp, Claudia A. L., Alders, Marielle, Luperchio, Teresa Romeo, Boukas, Leandros, Ramsey, Keri, Narayanan, Vinodh, Schaefer, G. Bradley, Bonasio, Roberto, Doheny, Kimberly F., Stevenson, Roger E., Banka, Siddharth, Sadikovic, Bekim, Fahrner, Jill A.
Published in Npj genomic medicine (24.11.2021)
Published in Npj genomic medicine (24.11.2021)
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Journal Article
Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis
Maiwald, Stephanie, Sivapalaratnam, Suthesh, Motazacker, Mahdi M, van Capelleveen, Julian C, Bot, Ilze, de Jager, Saskia C, van Eck, Miranda, Jolley, Jennifer, Kuiper, Johan, Stephens, Jonathon, Albers, Cornelius A, Vosmeer, C Ruben, Kruize, Heleen, Geerke, Daan P, van der Wal, Allard C, van der Loos, Chris M, Kastelein, John J P, Trip, Mieke D, Ouwehand, Willem H, Dallinga-Thie, Geesje M, Hovingh, G Kees
Published in PloS one (30.05.2014)
Published in PloS one (30.05.2014)
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Journal Article
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Li, Dong, Battig, Mark R, Bosch, Daniëlle Gm, van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K, Pérez-Jurado, Luis A, Aznar-Laín, Gemma, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Kremlikova Pourova, Radka, Sedlacek, Zdenek, Keena, Beth A, March, Michael E, Hou, Cuiping, O'Connor, Nora, Harr, Margaret H, Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Wright, Meredith, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Byler, Melissa, Balci, Tugce B, Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M, Martinez-Agosto, Julian A, Rabani, Ahna M, Falk, Marni J, Ruggiero, Sarah M, Helbig, Ingo, Møller, Rikke S, Krawitz, Peter M, Ganapathi, Mythily, Gelb, Bruce D, Wilson, Ashley, Jizi, Khadijé, Quelin, Chloé, Chick, Erika, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna Ce, Thompson, Michelle L, Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C, Shashi, Vandana, Cordeiro, Dawn, Carnevale, Amanda, Funalot, Benoît, Tran Mau-Them, Frederic, Fernandez Garcia Moya, Luis, Chad, Lauren, Li, Chumei, Sanchez-Valle, Amarilis, Sulem, Patrick, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Hadj Habdallah, Hamza, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Pfundt, Rolph, de Vries, Bert Ba, van Slegtenhorst, Marjon A, Brooks, Alice S, Cogne, Benjamin, Zackai, Elaine H, Song, Yuanquan, Hakonarson, Hakon
Published in The Journal of clinical investigation (01.01.2024)
Published in The Journal of clinical investigation (01.01.2024)
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Journal Article
Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia
Reeskamp, Laurens F., Balvers, Manon, Peter, Jorge, van de Kerkhof, Laura, Klaaijsen, Lisette N., Motazacker, Mahdi M., Grefhorst, Aldo, van Riel, Natal A.W., Hovingh, G. Kees, Defesche, Joep C., Zuurbier, Linda
Published in Atherosclerosis (01.03.2021)
Published in Atherosclerosis (01.03.2021)
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Journal Article
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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Journal Article
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
Kerkhof, Jennifer, Rastin, Cassandra, Levy, Michael A., Relator, Raissa, McConkey, Haley, Demain, Leigh, Dominguez-Garrido, Elena, Kaat, Laura Donker, Houge, Sofia Douzgou, DuPont, Barbara R., Fee, Timothy, Fletcher, Robin S., Gokhale, David, Haukanes, Bjørn Ivar, Henneman, Peter, Hilton, Sarah, Hilton, Benjamin A., Jenkinson, Sarah, Lee, Jennifer A., Louie, Raymond J., Motazacker, M. Mahdi, Rzasa, Jessica, Stevenson, Roger E., Plomp, Astrid, van der Laan, Liselot, van der Smagt, Jasper, Walden, Kellie K., Banka, Siddharth, Mannens, Marcel, Skinner, Steven A., Friez, Michael J., Campbell, Christopher, Tedder, Matthew L., Alders, Marielle, Sadikovic, Bekim
Published in Genetics in medicine (01.05.2024)
Published in Genetics in medicine (01.05.2024)
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Journal Article
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Jeanne, Médéric, Demory, Hélène, Moutal, Aubin, Vuillaume, Marie-Laure, Blesson, Sophie, Thépault, Rose-Anne, Marouillat, Sylviane, Halewa, Judith, Maas, Saskia M., Motazacker, M. Mahdi, Mancini, Grazia M.S., van Slegtenhorst, Marjon A., Andreou, Avgi, Cox, Helene, Vogt, Julie, Laufman, Jason, Kostandyan, Natella, Babikyan, Davit, Hancarova, Miroslava, Bendova, Sarka, Sedlacek, Zdenek, Aldinger, Kimberly A., Sherr, Elliott H., Argilli, Emanuela, England, Eleina M., Audebert-Bellanger, Séverine, Bonneau, Dominique, Colin, Estelle, Denommé-Pichon, Anne-Sophie, Gilbert-Dussardier, Brigitte, Isidor, Bertrand, Küry, Sébastien, Odent, Sylvie, Redon, Richard, Khanna, Rajesh, Dobyns, William B., Bézieau, Stéphane, Honnorat, Jérôme, Lohkamp, Bernhard, Toutain, Annick, Laumonnier, Frédéric
Published in American journal of human genetics (06.05.2021)
Published in American journal of human genetics (06.05.2021)
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Clinicobiological characteristics and treatment efficacy of novel agents in chronic lymphocytic leukemia with IGLV3-21R110
Hengeveld, Paul J., Ertem, Y. Emre, Dubois, Julie M. N., Mellink, Clemens H. M., van der Kevie-Kersemaekers, Anne-Marie, Evers, Ludo M., Heezen, Kim, Kolijn, P. Martijn, Mook, Olaf R. F., Motazacker, M. Mahdi, Nasserinejad, Kazem, Kersting, S., Westerweel, Peter E., Niemann, Carsten U., Kater, Arnon P., Langerak, Anton W., Levin, Mark-David
Published in Leukemia (01.07.2022)
Published in Leukemia (01.07.2022)
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Journal Article
Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation
Mir, Asif, Kaufman, Liana, Noor, Abdul, Motazacker, Mahdi M., Jamil, Talal, Azam, Matloob, Kahrizi, Kimia, Rafiq, Muhammad Arshad, Weksberg, Rosanna, Nasr, Tanveer, Naeem, Farooq, Tzschach, Andreas, Kuss, Andreas W., Ishak, Gisele E., Doherty, Dan, Ropers, H. Hilger, Barkovich, A. James, Najmabadi, Hossein, Ayub, Muhammad, Vincent, John B.
Published in American journal of human genetics (11.12.2009)
Published in American journal of human genetics (11.12.2009)
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Journal Article
A loss-of-function variant in OSBPL1A predisposes to low plasma HDL cholesterol levels and impaired cholesterol efflux capacity
Motazacker, Mahdi M, Pirhonen, Juho, van Capelleveen, Julian C, Weber-Boyvat, Marion, Kuivenhoven, Jan Albert, Shah, Saundarya, Hovingh, G. Kees, Metso, Jari, Li, Shiqian, Ikonen, Elina, Jauhiainen, Matti, Dallinga-Thie, Geesje M, Olkkonen, Vesa M
Published in Atherosclerosis (01.06.2016)
Published in Atherosclerosis (01.06.2016)
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Journal Article
ABCA1 mutation carriers with low high-density lipoprotein cholesterol are characterized by a larger atherosclerotic burden
Bochem, Andrea E, van Wijk, Diederik F, Holleboom, Adriaan G, Duivenvoorden, Raphaël, Motazacker, Mahdi M, Dallinga-Thie, Geesje M, de Groot, Eric, Kastelein, John J P, Nederveen, Aart J, Hovingh, G Kees, Stroes, Erik S G
Published in European heart journal (01.01.2013)
Published in European heart journal (01.01.2013)
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Journal Article
A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia
Dannenberg, Fabian, Von Moers, Arpad, Bittigau, Petra, Lange, Jörn, Wiegand, Sylvia, Török, Ferenc, Stölting, Gabriel, Striessnig, Jörg, Motazacker, M. Mahdi, Broekema, Marjoleine F., Schuelke, Markus, Kaindl, Angela M., Scholl, Ute I., Ortner, Nadine J.
Published in Neurology. Genetics (01.10.2024)
Published in Neurology. Genetics (01.10.2024)
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