Next Generation Sequencing and Genome-Wide Genotyping Identify the Genetic Causes of Intellectual Disability in Ten Consanguineous Families from Jordan von Froukh, Tawfiq Jamal

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Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families von Froukh, Tawfiq, Hawwari, Ammar, Al Zubi, Khalid

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Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features von Johansen, Anide, Rosti, Rasim O., Musaev, Damir, Sticca, Evan, Harripaul, Ricardo, Zaki, Maha, Çağlayan, Ahmet Okay, Azam, Matloob, Sultan, Tipu, Froukh, Tawfiq, Reis, André, Popp, Bernt, Ahmed, Iltaf, John, Peter, Ayub, Muhammad, Ben-Omran, Tawfeg, Vincent, John B., Gleeson, Joseph G., Abou Jamra, Rami

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Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy von Banks, Emily, Francis, Vincent, Lin, Sheng-Jia, Kharfallah, Fares, Fonov, Vladimir, Lévesque, Maxime, Han, Chanshuai, Kulasekaran, Gopinath, Tuznik, Marius, Bayati, Armin, Al-Khater, Reem, Alkuraya, Fowzan S., Argyriou, Loukas, Babaei, Meisam, Bahlo, Melanie, Bakhshoodeh, Behnoosh, Barr, Eileen, Bartik, Lauren, Bassiony, Mahmoud, Bertrand, Miriam, Braun, Dominique, Buchert, Rebecca, Budetta, Mauro, Cadieux-Dion, Maxime, Calame, Daniel G., Cope, Heidi, Cushing, Donna, Efthymiou, Stephanie, Elmaksoud, Marwa Abd, El Said, Huda G., Froukh, Tawfiq, Gill, Harinder K., Gleeson, Joseph G., Gogoll, Laura, Goh, Elaine S.-Y., Gowda, Vykuntaraju K., Haack, Tobias B., Hashem, Mais O., Hauser, Stefan, Hoffman, Trevor L., Hogue, Jacob S., Hosokawa, Akimoto, Houlden, Henry, Huang, Kevin, Huynh, Stephanie, Karimiani, Ehsan G., Kaulfuß, Silke, Korenke, G. Christoph, Kritzer, Amy, Lee, Hane, Lupski, James R., Marco, Elysa J., McWalter, Kirsty, Minassian, Arakel, Minassian, Berge A., Murphy, David, Neira-Fresneda, Juanita, Northrup, Hope, Nyaga, Denis M., Oehl-Jaschkowitz, Barbara, Osmond, Matthew, Person, Richard, Pehlivan, Davut, Petree, Cassidy, Sadleir, Lynette G., Saunders, Carol, Schoels, Ludger, Shashi, Vandana, Spillmann, Rebecca C., Srinivasan, Varunvenkat M., Torbati, Paria N., Tos, Tulay, Zaki, Maha S., Zhou, Dihong, Zweier, Christiane, Trempe, Jean-François, Durcan, Thomas M., Gan-Or, Ziv, Avoli, Massimo, Alves, Cesar, Varshney, Gaurav K., Maroofian, Reza, Rudko, David A., McPherson, Peter S.

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A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode von Marafi, Dana, Kozar, Nina, Duan, Ruizhi, Bradley, Stephen, Yokochi, Kenji, Al Mutairi, Fuad, Saadi, Nebal Waill, Whalen, Sandra, Brunet, Theresa, Kotzaeridou, Urania, Choukair, Daniela, Keren, Boris, Nava, Caroline, Kato, Mitsuhiro, Arai, Hiroshi, Froukh, Tawfiq, Faqeih, Eissa Ali, AlAsmari, Ali M., Saleh, Mohammed M., Pinto e Vairo, Filippo, Pichurin, Pavel N., Klee, Eric W., Schmitz, Christopher T., Grochowski, Christopher M., Mitani, Tadahiro, Herman, Isabella, Calame, Daniel G., Fatih, Jawid M., Du, Haowei, Coban-Akdemir, Zeynep, Pehlivan, Davut, Jhangiani, Shalini N., Gibbs, Richard A., Miyatake, Satoko, Matsumoto, Naomichi, Wagstaff, Laura J., Posey, Jennifer E., Lupski, James R., Meijer, Dies, Wagner, Matias

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First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan von Froukh, Tawfiq

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Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities von Chowdhury, Fuad, Wang, Lei, Al-Raqad, Mohammed, Amor, David J., Baxová, Alice, Bendová, Šárka, Biamino, Elisa, Brusco, Alfredo, Caluseriu, Oana, Cox, Nancy J., Froukh, Tawfiq, Gunay-Aygun, Meral, Hančárová, Miroslava, Haynes, Devon, Heide, Solveig, Hoganson, George, Kaname, Tadashi, Keren, Boris, Kosaki, Kenjiro, Kubota, Kazuo, Lemons, Jennifer M., Magriña, Maria A., Mark, Paul R., McDonald, Marie T., Montgomery, Sarah, Morley, Gina M., Ohnishi, Hidenori, Okamoto, Nobuhiko, Rodriguez-Buritica, David, Rump, Patrick, Sedláček, Zdeněk, Schatz, Krista, Streff, Haley, Uehara, Tomoko, Walia, Jagdeep S., Wheeler, Patricia G., Wiesener, Antje, Zweier, Christiane, Kawakami, Koichi, Wentzensen, Ingrid M., Lalani, Seema R., Siu, Victoria M., Bi, Weimin, Balci, Tugce B.

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Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene von Froukh, Tawfiq

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Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene: Dopa-responsive dystonia von Froukh, Tawfiq

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Genetic population structure of the endemic fourline wrasse (Larabicus quadrilineatus) suggests limited larval dispersal distances in the Red Sea von FROUKH, TAWFIQ, KOCHZIUS, MARC

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Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders von Reuter, Miriam S, Tawamie, Hasan, Buchert, Rebecca, Hosny Gebril, Ola, Froukh, Tawfiq, Thiel, Christian, Uebe, Steffen, Ekici, Arif B, Krumbiegel, Mandy, Zweier, Christiane, Hoyer, Juliane, Eberlein, Karolin, Bauer, Judith, Scheller, Ute, Strom, Tim M, Hoffjan, Sabine, Abdelraouf, Ehab R, Meguid, Nagwa A, Abboud, Ahmad, Al Khateeb, Mohammed Ayman, Fakher, Mahmoud, Hamdan, Saber, Ismael, Amina, Muhammad, Safia, Abdallah, Ebtessam, Sticht, Heinrich, Wieczorek, Dagmar, Reis, André, Abou Jamra, Rami

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Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes von Giovenino, Chiara, Trajkova, Slavica, Pavinato, Lisa, Cardaropoli, Simona, Pullano, Verdiana, Ferrero, Enza, Sukarova-Angelovska, Elena, Carestiato, Silvia, Salmin, Paola, Rinninella, Antonina, Battaglia, Anthony, Bertoli, Luca, Fadda, Antonio, Palermo, Flavia, Carli, Diana, Mussa, Alessandro, Dimartino, Paola, Bruselles, Alessandro, Froukh, Tawfiq, Mandrile, Giorgia, Pasini, Barbara, De Rubeis, Silvia, Buxbaum, Joseph D, Pippucci, Tommaso, Tartaglia, Marco, Rossato, Marzia, Delledonne, Massimo, Ferrero, Giovanni Battista, Brusco, Alfredo

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Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy von Buchert, Rebecca, Burkhalter, Martin D, Huridou, Chrisovalantou, Sofan, Linda, Roser, Timo, Cremer, Kirsten, Alvi, Javeria Raza, Efthymiou, Stephanie, Froukh, Tawfiq, Gulieva, Sughra, Guliyeva, Ulviyya, Hamdallah, Moath, Holder-Espinasse, Muriel, Kaiyrzhanov, Rauan, Klingler, Doreen, Koko, Mahmoud, Matthies, Lars, Park, Joohyun, Sturm, Marc, Velic, Ana, Spranger, Stephanie, Sultan, Tipu, Engels, Hartmut, Lerche, Holger, Houlden, Henry, Pagnamenta, Alistair T, Borggraefe, Ingo, Weber, Yvonne, Bonnen, Penelope E, Maroofian, Reza, Riess, Olaf, Weber, Jonasz J, Philipp, Melanie, Haack, Tobias B

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Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy von Rapp, Christina K., Van Dijck, Ine, Laugwitz, Lucia, Boon, Mieke, Briassoulis, George, Ilia, Stavroula, Kammer, Birgit, Reu, Simone, Hornung, Stefanie, Buchert, Rebecca, Sofan, Linda, Froukh, Tawfiq, Witters, Peter, Rymen, Daisy, Haack, Tobias B., Proesmans, Marijke, Griese, Matthias

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Two cases of variant late infantile ceroid lipofuscinosis in Jordan von Nafi, Omar, Ramadan, Bashar, Riess, Olaf, Buchert, Rebecca, Froukh, Tawfiq

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Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy von Rapp, Christina K, Van Dijck, Ine, Laugwitz, Lucia, Boon, Mieke, Briassoulis, George, Ilia, Stavroula, Kammer, Birgit, Reu, Simone, Hornung, Stefanie, Buchert, Rebecca, Sofan, Linda, Froukh, Tawfiq, Witters, Peter, Rymen, Daisy, Haack, Tobias B, Proesmans, Marijke, Griese, Matthias

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Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A von Han, Chanshuai, Alkhater, Reem, Froukh, Tawfiq, Minassian, Arakel G., Galati, Melissa, Liu, Rui Han, Fotouhi, Maryam, Sommerfeld, Julia, Alfrook, Ayman J., Marshall, Christian, Walker, Susan, Bauer, Peter, Scherer, Stephen W., Riess, Olaf, Buchert, Rebecca, Minassian, Berge A., McPherson, Peter S.

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Genetic basis of neurodevelopmental disorders in 103 Jordanian families von Froukh, Tawfiq, Nafie, Omar, Al Hait, Sana' A. S., Laugwitz, Lucia, Sommerfeld, Julia, Sturm, Marc, Baraghiti, Aya, Issa, Tala, Al‐Nazer, Anis, Koch, Philipp A., Hanselmann, Johannes, Kootz, Beate, Bauer, Peter, Al‐Ameri, Wael, Abou Jamra, Rami, Alfrook, Ayman J., Hamadallah, Moath, Sofan, Linda, Riess, Angelika, Haack, Tobias B., Riess, Olaf, Buchert, Rebecca

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Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype von Knuutinen, Oula, Pyle, Angela, Suo‐Palosaari, Maria, Duff, Jennifer, Froukh, Tawfiq, Lehesjoki, Anna‐Elina, Kangas, Salla M., Cassidy, James, Maraqa, Latifa, Keski‐Filppula, Riikka, Kokkonen, Hannaleena, Uusimaa, Johanna, Horvath, Rita, Vieira, Päivi

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Frequency of genetic polymorphisms of ADAM33 and their association with allergic rhinitis among Jordanians von Zihlif, Malek, Mahafza, Tareq, Obeidat, Nathir M., Froukh, Tawfiq, Shaban, Mazen, Al-Akhras, Fatima M., Zihlif, Nadwa, Naffa, Randa

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