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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Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype by Averdunk, Luisa, Sticht, Heinrich, Surowy, Harald, Lüdecke, Hermann‑Josef, Koch‑Hogrebe, Margarete, Alsaif, Hessa S., Kahrizi, Kimia, Alzaidan, Hamad, Alawam, Bashayer S., Tohary, Mohamed, Kraus, Cornelia, Endele, Sabine, Wadman, Erin, Kaplan, Julie D., Efthymiou, Stephanie, Najmabadi, Hossein, Reis, André, Alkuraya, Fowzan S., Wieczorek, Dagmar

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Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients by Mosallaei, Meysam, Ehtesham, Naeim, Beheshtian, Maryam, Khoshbakht, Shahrouz, Davarnia, Behzad, Kahrizi, Kimia, Najmabadi, Hossein

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Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans by Grillet, Nicolas, Schwander, Martin, Hildebrand, Michael S., Sczaniecka, Anna, Kolatkar, Anand, Velasco, Janice, Webster, Jennifer A., Kahrizi, Kimia, Najmabadi, Hossein, Kimberling, William J., Stephan, Dietrich, Bahlo, Melanie, Wiltshire, Tim, Tarantino, Lisa M., Kuhn, Peter, Smith, Richard J.H., Müller, Ulrich

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PDZD7 and hearing loss: More than just a modifier by Booth, Kevin T., Azaiez, Hela, Kahrizi, Kimia, Simpson, Allen C., Tollefson, William T.A., Sloan, Christina M., Meyer, Nicole C., Babanejad, Mojgan, Ardalani, Fariba, Arzhangi, Sanaz, Schnieders, Michael J., Najmabadi, Hossein, Smith, Richard J.H.

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Hydroxyurea responsiveness in β-thalassemic patients is determined by the stress response adaptation of erythroid progenitors and their differentiation propensity by Pourfarzad, Farzin, von Lindern, Marieke, Azarkeivan, Azita, Hou, Jun, Kia, Sima Kheradmand, Esteghamat, Fatemehsadat, van Ijcken, Wilfred, Philipsen, Sjaak, Najmabadi, Hossein, Grosveld, Frank

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Grxcr2 is required for stereocilia morphogenesis in the cochlea by Avenarius, Matthew R, Jung, Jae-Yun, Askew, Charles, Jones, Sherri M, Hunker, Kristina L, Azaiez, Hela, Rehman, Atteeq U, Schraders, Margit, Najmabadi, Hossein, Kremer, Hannie, Smith, Richard J H, Géléoc, Gwenaëlle S G, Dolan, David F, Raphael, Yehoash, Kohrman, David C

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A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran by Babanejad, Mojgan, Fattahi, Zohreh, Bazazzadegan, Niloofar, Nishimura, Carla, Meyer, Nicole, Nikzat, Nooshin, Sohrabi, Elahe, Najmabadi, Amin, Jamali, Peyman, Habibi, Farkhonde, Smith, Richard J.H., Kahrizi, Kimia, Najmabadi, Hossein

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Core myopathy in two siblings with a biallelic variant in the CACNA1S gene—A case series study by Khoeini, Tara, Kariminejad, Ariana, Nilipour, Yalda, Ariaei, Armin, Najmabadi, Hossein, Arabshahi, Mojtaba, Faraji Zonooz, Mehrshid, Haghi Ashtiani, Bahram

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Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes by Smith, Katherine R, Bromhead, Catherine J, Hildebrand, Michael S, Shearer, A Eliot, Lockhart, Paul J, Najmabadi, Hossein, Leventer, Richard J, McGillivray, George, Amor, David J, Smith, Richard J, Bahlo, Melanie

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P292: Contribution of rare variants in the development of familial premature coronary artery disease in a cohort of cardiac patients by Mehvari, Sepideh, Fathi, Nahid Karimian, Asadnezhad, Maryam, Arzhangi, Sanaz, Sadeghian, Saeed, Boroumand, Mohammadali, Shokohizadeh, Fatemeh, Rostami, Elham, Boroumand, Rahnama, Malekzadeh, Reza, Riazalhosseini, Yasser, Akbari, Mohammadreza, Lathrop, Mark, Najmabadi, Hossein, Hosseini, Kaveh, Kahrizi, Kimia

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P483: A comprehensive study of spinal muscular atrophy testing referrals’ data among the Iranian population since 2006 by Khanbazi, Ali, Beheshtian, Maryam, Azad, Maryam, Akbari, Masoume, Afrozan, Fariba, Fatehi, Fatemeh, Noudehi, Khadijeh, Najafabadi, Shima Zamanian, Kariminejad, Ariana, Kahrizi, Kimia, Najmabadi, Hossein

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Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability by Rafiq, Muhammad Arshad, Kuss, Andreas W., Puettmann, Lucia, Noor, Abdul, Ramiah, Annapoorani, Ali, Ghazanfar, Hu, Hao, Kerio, Nadir Ali, Xiang, Yong, Garshasbi, Masoud, Khan, Muzammil Ahmad, Ishak, Gisele E., Weksberg, Rosanna, Ullmann, Reinhard, Tzschach, Andreas, Kahrizi, Kimia, Mahmood, Khalid, Naeem, Farooq, Ayub, Muhammad, Moremen, Kelley W., Vincent, John B., Ropers, Hans Hilger, Ansar, Muhammad, Najmabadi, Hossein

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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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A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia by Ben Ammar, Asma, Soltanzadeh, Payam, Bauché, Stéphanie, Richard, Pascale, Goillot, Evelyne, Herbst, Ruth, Gaudon, Karen, Huzé, Caroline, Schaeffer, Laurent, Yamanashi, Yuji, Higuchi, Osamu, Taly, Antoine, Koenig, Jeanine, Leroy, Jean-Paul, Hentati, Fayçal, Najmabadi, Hossein, Kahrizi, Kimia, Ilkhani, Manouchehr, Fardeau, Michel, Eymard, Bruno, Hantaï, Daniel

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Bi‐allelic loss of function variant in the NRCAM gene is associated with motor‐predominant axonal polyneuropathy; the second report by Elahi, Zohreh, Soveyzi, Mohamad, Nafissi, Shahriar, Nilipour, Yalda, Goleyjani Moghadam, Masoumeh, Keshavarz, Elham, Kariminejad, Ariana, Najmabadi, Hossein, Fattahi, Zohreh

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Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans by Pak, ChangHui, Garshasbi, Masoud, Kahrizi, Kimia, Gross, Christina, Apponi, Luciano H, Noto, John J, Kelly, Seth M, Leung, Sara W, Tzschach, Andreas, Behjati, Farkhondeh, Abedini, Seyedeh Sedigheh, Mohseni, Marzieh, Jensen, Lars R, Hu, Hao, Huang, Brenda, Stahley, Sara N, Liu, Guanglu, Williams, Kathryn R, Burdick, Sharon, Feng, Yue, Sanyal, Subhabrata, Bassell, Gary J, Ropers, Hans-Hilger, Najmabadi, Hossein, Corbett, Anita H, Moberg, Kenneth H, Kuss, Andreas W

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NDST1 missense mutations in autosomal recessive intellectual disability by Reuter, Miriam S., Musante, Luciana, Hu, Hao, Diederich, Stefan, Sticht, Heinrich, Ekici, Arif B., Uebe, Steffen, Wienker, Thomas F., Bartsch, Oliver, Zechner, Ulrich, Oppitz, Cornelia, Keleman, Krystyna, Jamra, Rami Abou, Najmabadi, Hossein, Schweiger, Susann, Reis, André, Kahrizi, Kimia

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Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population by Fattahi, Zohreh, Shearer, A. Eliot, Babanejad, Mojgan, Bazazzadegan, Niloofar, Almadani, Seyed Navid, Nikzat, Nooshin, Jalalvand, Khadijeh, Arzhangi, Sanaz, Esteghamat, Fatemehsadat, Abtahi, Rezvan, Azadeh, Batool, Smith, Richard J.H., Kahrizi, Kimia, Najmabadi, Hossein

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Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration by Iqbal, Zafar, Püttmann, Lucia, Musante, Luciana, Razzaq, Attia, Zahoor, Muhammad Yasir, Hu, Hao, Wienker, Thomas F, Garshasbi, Masoud, Fattahi, Zohreh, Gilissen, Christian, Vissers, Lisenka E L M, de Brouwer, Arjan P M, Veltman, Joris A, Pfundt, Rolph, Najmabadi, Hossein, Ropers, Hans-Hilger, Riazuddin, Sheikh, Kahrizi, Kimia, van Bokhoven, Hans

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