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
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
Significance of surface charge and shell material of superparamagnetic iron oxide nanoparticle (SPION) based core/shell nanoparticles on the composition of the protein corona
Sakulkhu, Usawadee, Mahmoudi, Morteza, Maurizi, Lionel, Coullerez, Geraldine, Hofmann-Amtenbrink, Margarethe, Vries, Marcel, Motazacker, Mahdi, Rezaee, Farhad, Hofmann, Heinrich
Published in Biomaterials science (01.01.2015)
Published in Biomaterials science (01.01.2015)
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Journal Article
Ex situ evaluation of the composition of protein corona of intravenously injected superparamagnetic nanoparticles in rats
Sakulkhu, Usawadee, Maurizi, Lionel, Mahmoudi, Morteza, Motazacker, Mahdi, Vries, Marcel, Gramoun, Azza, Ollivier Beuzelin, Marie-Gabrielle, Vallée, Jean-Paul, Rezaee, Farhad, Hofmann, Heinrich
Published in Nanoscale (01.01.2014)
Published in Nanoscale (01.01.2014)
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Journal Article
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R, Zhou, Yijing, Bosch, Daniëlle Gm, van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K, Pérez-Jurado, Luis A, Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Kremlikova Pourova, Radka, Sedlacek, Zdenek, Keena, Beth A, March, Michael E, Hou, Cuiping, O'Connor, Nora, Bhoj, Elizabeth J, Harr, Margaret H, Lemire, Gabrielle, Boycott, Kym M, Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J, Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J, Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B, Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M, Motazacker, Mahdi M, Martinez-Agosto, Julian A, Rabani, Ahna M, McCormick, Elizabeth M, Falk, Marni J, Ruggiero, Sarah M, Helbig, Ingo, Møller, Rikke S, Tessarollo, Lino, Tomassoni Ardori, Francesco, Palko, Mary Ellen, Hsieh, Tzung-Chien, Krawitz, Peter M, Ganapathi, Mythily, Gelb, Bruce D, Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange-Line, Quelin, Chloé, Misra, Vinod K, Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna Ce, Thompson, Michelle L, Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C, Shashi, Vandana
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
Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia
MAHDI MOTAZACKER, Mohammad, PIRRUCCELLO, James, ZELCER, Noam, KATHIRESAN, Sekar, FOUCHIER, Sigrid W, HUIJGEN, Roetand, DO, Ron, GABRIEL, Stacey, PETER, Jorge, ATBERT KUIVENHOVEN, Jan, DEFESCHE, Joep C, KASTELEIN, John J. P, KEES HOVINGH, G
Published in European heart journal (01.06.2012)
Published in European heart journal (01.06.2012)
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Journal Article
A Defect in the Ionotropic Glutamate Receptor 6 Gene ( GRIK2) Is Associated with Autosomal Recessive Mental Retardation
Motazacker, Mohammad Mahdi, Rost, Benjamin Rainer, Hucho, Tim, Garshasbi, Masoud, Kahrizi, Kimia, Ullmann, Reinhard, Abedini, Seyedeh Sedigheh, Nieh, Sahar Esmaeeli, Amini, Saeid Hosseini, Goswami, Chandan, Tzschach, Andreas, Jensen, Lars Riff, Schmitz, Dietmar, Ropers, Hans Hilger, Najmabadi, Hossein, Kuss, Andreas Walter
Published in American journal of human genetics (01.10.2007)
Published in American journal of human genetics (01.10.2007)
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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
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
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
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
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
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
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
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
Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family
Nikkola, Elina, Ko, Arthur, Alvarez, Marcus, Cantor, Rita M., Garske, Kristina, Kim, Elliot, Gee, Stephanie, Rodriguez, Alejandra, Muxel, Reinhard, Matikainen, Niina, Söderlund, Sanni, Motazacker, Mahdi M., Borén, Jan, Lamina, Claudia, Kronenberg, Florian, Schneider, Wolfgang J., Palotie, Aarno, Laakso, Markku, Taskinen, Marja-Riitta, Pajukanta, Päivi
Published in Atherosclerosis (01.09.2017)
Published in Atherosclerosis (01.09.2017)
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Journal Article
RELN rare variants in myoclonus-dystonia
Groen, Justus L., Ritz, Katja, Jalalzadeh, Hamid, van der Salm, Sandra M.A., Jongejan, Aldo, Mook, Olaf R., Haagmans, Martin A., Zwinderman, Aeilko H., Motazacker, Mahdi M., Hennekam, Raoul C., Baas, Frank, Tijssen, Marina A.J.
Published in Movement disorders (01.03.2015)
Published in Movement disorders (01.03.2015)
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