Variants in CIB2 cause DFNB48 and not USH1J von Booth, K.T., Kahrizi, K., Babanejad, M., Daghagh, H., Bademci, G., Arzhangi, S., Zareabdollahi, D., Duman, D., El‐Amraoui, A., Tekin, M., Najmabadi, H., Azaiez, H., Smith, R.J.

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The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders von Charzewska, A., Maiwald, R., Kahrizi, K., Oehl‐Jaschkowitz, B., Dufke, A., Lemke, J.R., Enders, H., Najmabadi, H., Tzschach, A., Hachmann, W., Jensen, C., Bienek, M., Poznański, J., Nawara, M., Chilarska, T., Obersztyn, E., Hoffman‐Zacharska, D., Gos, M., Bal, J., Kalscheuer, V.M.

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De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females von Palmer, E E, Stuhlmann, T, Weinert, S, Haan, E, Van Esch, H, Holvoet, M, Boyle, J, Leffler, M, Raynaud, M, Moraine, C, van Bokhoven, H, Kleefstra, T, Kahrizi, K, Najmabadi, H, Ropers, H-H, Delgado, M R, Sirsi, D, Golla, S, Sommer, A, Pietryga, M P, Chung, W K, Wynn, J, Rohena, L, Bernardo, E, Hamlin, D, Faux, B M, Grange, D K, Manwaring, L, Tolmie, J, Joss, S, Cobben, J M, Duijkers, F A M, Goehringer, J M, Challman, T D, Hennig, F, Fischer, U, Grimme, A, Suckow, V, Musante, L, Nicholl, J, Shaw, M, Lodh, S P, Niu, Z, Rosenfeld, J A, Stankiewicz, P, Jentsch, T J, Gecz, J, Field, M, Kalscheuer, V M

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Adult‐onset very‐long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD) von Fatehi, F., Okhovat, A. A., Nilipour, Y., Mroczek, M., Straub, V., Töpf, A., Palibrk, A., Peric, S., Rakocevic Stojanovic, V., Najmabadi, H., Nafissi, S.

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Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population von Fattahi, Z., Kalhor, Z., Fadaee, M., Vazehan, R., Parsimehr, E., Abolhassani, A., Beheshtian, M., Zamani, G., Nafissi, S., Nilipour, Y., Akbari, M.R., Kahrizi, K., Kariminejad, A., Najmabadi, H.

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A clinical and molecular genetic study of 112 Iranian families with primary microcephaly von Darvish, H, Esmaeeli-Nieh, S, Monajemi, G B, Mohseni, M, Ghasemi-Firouzabadi, S, Abedini, S S, Bahman, I, Jamali, P, Azimi, S, Mojahedi, F, Dehghan, A, Shafeghati, Y, Jankhah, A, Falah, M, Soltani Banavandi, M J, Ghani-Kakhi, M, Garshasbi, M, Rakhshani, F, Naghavi, A, Tzschach, A, Neitzel, H, Ropers, H H, Kuss, A W, Behjati, F, Kahrizi, K, Najmabadi, H

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Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping von Amos, J.S., Huang, L., Thevenon, J., Kariminedjad, A., Beaulieu, C.L., Masurel‐Paulet, A., Najmabadi, H., Fattahi, Z., Beheshtian, M., Tonekaboni, S.H., Tang, S., Helbig, K.L., Alcaraz, W., Rivière, J.‐B., Faivre, L., Innes, A.M., Lebel, R.R., Boycott, K.M.

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Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants von Kroos, Marian, Hoogeveen-Westerveld, Marianne, Michelakakis, Helen, Pomponio, Robert, Van der Ploeg, Ans, Halley, Dicky, Reuser, Arnold, Augoustides-Savvopoulou, Persephone, Ausems, Margreet, Llona, Jose Barcena, Bautista Lorite, Juan, van der Beek, Nadine, Bonafe, Luisa, Cuk, Mario, D'Hooghe, Marc, Engelen, Baziel, Farouk, A., Fumic, K., Garcia-Delgado, E., Herzog, Andreas, Hurst, J., Jones, Simon, Kariminejad, M. H., Küçükçongar, Aynur, Lissens, W., Lund, Allan, Majoor-Krakauer, Danielle, Kumamoto, Shingo, Maravi, E., Marie, Suely, Mengel, Eugen, Mavridou, Irene, Munteis Olivas, E., Najmabadi, H., Okumiya, Toshika, Peric, Stojan, Paschke, Eduard, Plecko, Barbara, Robberecht, Wim, Serdaroglu, Piraye, Shboul, Mohammad, Tansek, Mojca Zerjav, Tarnutzer, A., Stojanovic, Vidosava Rakocevic, Tylki-Szymanska, Anna, Venâncio, Maria, Verhoeven, Kristof

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Prevalence of ACTN3 (the athlete gene) R577X polymorphism in Iranian population von Fattahi, Z., Najmabadi, H.

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Exceptional human core promoter nucleotide compositions von Darvish, H., Nabi, M. Olad, Firouzabadi, S. Ghasemi, Karimlou, M., Heidari, A., Najmabadi, H., Ohadi, M.

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Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families von Zeinali, F, Mohseni, M, Fadaee, M, Fattahi, Z, Najmabadi, H, Otukesh, H, Kahrizi, K

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Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations von Papari, E, Bastami, M, Farhadi, A, Abedini, SS, Hosseini, M, Bahman, I, Mohseni, M, Garshasbi, M, Moheb, L Abbasi, Behjati, F, Kahrizi, K, Ropers, H-H, Najmabadi, H

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A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus von Yang, T, Kahrizi, K, Bazazzadeghan, N, Meyer, N, Najmabadi, H, Smith, RJH

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Core promoter STRs: Novel mechanism for inter-individual variation in gene expression in humans von Heidari, A., Nariman Saleh Fam, Z., Esmaeilzadeh-Gharehdaghi, E., Banan, M., Hosseinkhani, S., Mohammadparast, S., Oladnabi, M., Ebrahimpour, M.R., Soosanabadi, M., Farokhashtiani, T., Darvish, H., Firouzabadi, S. Ghasemi, Farashi, S., Najmabadi, H., Ohadi, M.

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Prevalence of ACTN3 (the athlete gene) R577X polymorphism in Iranian population von Fattahi, Z, Najmabadi, H

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A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family von Hilgert, N, Kahrizi, K, Dieltjens, N, Bazazzadegan, N, Najmabadi, H, Smith, R J H, Van Camp, G

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Support for down-tuning of the calreticulin gene in the process of human evolution von Esmaeilzadeh-Gharehdaghi, E., Banan, M., Farashi, S., Mirabzadeh, A., Farokhashtiani, T., Hosseinkhani, S., Heidari, A., Najmabadi, H., Ohadi, M.

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Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation von Hildebrand, MS, Thorne, NP, Bromhead, CJ, Kahrizi, K, Webster, JA, Fattahi, Z, Bataejad, M, Kimberling, WJ, Stephan, D, Najmabadi, H, Bahlo, M, Smith, RJH

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Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus von Chen, W, Kahrizi, K, Meyer, N C, Riazalhosseini, Y, Van Camp, G, Najmabadi, H, Smith, R J H

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Reversion of the human calreticulin gene promoter to the ancestral type as a result of a novel psychosis-associated mutation von Farokhashtiani, T., Mirabzadeh, A., Olad Nabi, M., Ghaem Magham, Z., Khorram Khorshid, H.R., Najmabadi, H., Ohadi, M.

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