ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions by 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.

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Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability by 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.

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Expanding the spectrum of CEP55‐associated disease to viable phenotypes by 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.

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High density lipoprotein as a source of cholesterol for adrenal steroidogenesis: a study in individuals with low plasma HDL-C by 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.

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BOD1 Is Required for Cognitive Function in Humans and Drosophila by 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

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Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood by 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.

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Adrenal Function in females with low plasma HDL-C due to mutations in ABCA1 and LCAT by 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

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Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis by 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

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Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood by 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.

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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities by 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

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features by 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

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Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia by 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

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De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy by 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

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Clinicobiological characteristics and treatment efficacy of novel agents in chronic lymphocytic leukemia with IGLV3-21R110 by 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

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ABCA1 mutation carriers with low high-density lipoprotein cholesterol are characterized by a larger atherosclerotic burden by 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

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Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation by 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.

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A loss-of-function variant in OSBPL1A predisposes to low plasma HDL cholesterol levels and impaired cholesterol efflux capacity by 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

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A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia by 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.

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Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family by 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

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RELN rare variants in myoclonus-dystonia by 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.

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