Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort by Lieselot Vincke, Kristof Van Schil, Hamid Ahmadieh, Afrooz Moghaddasi, Hamideh Sabbaghi, Narsis Daftarian, Tahmineh Motevasseli, Leila Javanparast Sheykhani, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Julie De Zaeytijd, Marieke De Bruyne, Quinten Mahieu, Ebrahim Al-Hajj, Marta Del Pozo-Valero, Toon Rosseel, Mattias Van Heetvelde, Reza Maroofian, Fatemeh Suri, Miriam Bauwens, Elfride De Baere

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Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin by Beth L. Woodward, Sudipta Lahiri, Anoop S. Chauhan, Marcos Rios Garcia, Lucy E. Goodley, Thomas L. Clarke, Mohinder Pal, Angelo Agathanggelou, Satpal S. Jhujh, Anil N. Ganesh, Fay M. Hollins, Valentina Galassi Deforie, Reza Maroofian, Stephanie Efthymiou, Andrea Meinhardt, Christopher G. Mathew, Michael A. Simpson, Heather C. Mefford, Eissa A. Faqeih, Sergio D. Rosenzweig, Stefano Volpi, Gigliola Di Matteo, Caterina Cancrini, Annarita Scardamaglia, Fiona Shackley, E. Graham Davies, Shahnaz Ibrahim, Peter D. Arkwright, Maha S. Zaki, Tatjana Stankovic, A. Malcolm R. Taylor, Antonina J. Mazur, Nataliya Di Donato, Henry Houlden, Eli Rothenberg, Grant S. Stewart

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RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS by Avinash V. Dharmadhikari, Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah, Itaru Samejima, Yanwen Shen, Martin A. Wear, Kiara E. Moore, Elena Kondakova, Natalia Mitina, Theres Schaub, Grace K. Lee, Christine H. Umandap, Sara M. Berger, Alejandro D. Iglesias, Bernt Popp, Rami Abou Jamra, Heinz Gabriel, Stefan Rentas, Alyssa L. Rippert, Christopher Gray, Kosuke Izumi, Laura K. Conlin, Daniel C. Koboldt, Theresa Mihalic Mosher, Scott E. Hickey, Dara V. F. Albert, Haley Norwood, Amy Feldman Lewanda, Hongzheng Dai, Pengfei Liu, Tadahiro Mitani, Dana Marafi, Hatice Koçak Eker, Davut Pehlivan, Jennifer E. Posey, Natalie C. Lippa, Natalie Vena, Erin L. Heinzen, David B. Goldstein, Cyril Mignot, Jean-Madeleine de Sainte Agathe, Nouriya Abbas Al-Sannaa, Mina Zamani, Saeid Sadeghian, Reza Azizimalamiri, Tahere Seifia, Maha S. Zaki, Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid, Lama Alabdi, Fowzan Sami Alkuraya, Heba Dawoud, Aya Lofty, Peter Bauer, Giovanni Zifarelli, Erum Afzal, Faisal Zafar, Stephanie Efthymiou, Daniel Gossett, Meghan C. Towne, Raey Yeneabat, Belen Perez-Duenas, Ana Cazurro-Gutierrez, Edgard Verdura, Veronica Cantarin-Extremera, Ana do Vale Marques, Aleksandra Helwak, David Tollervey, Sandeep N. Wontakal, Vimla S. Aggarwal, Jill A. Rosenfeld, Victor Tarabykin, Shinya Ohta, James R. Lupski, Henry Houlden, William C. Earnshaw, Erica E. Davis, A. Arockia Jeyaprakash, Jun Liao

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SLK is mutated in individuals with a neurodevelopmental disorderResearch in context by Lama Alabdi, Norah Altuwaijri, Jun-yi Zhu, Stephanie Efthymiou, Hangnoh Lee, Jianli Duan, Israa Salem, Piao Yu, Nor Linda Abdullah, Fatema Alzahrani, Qing Xu, Mashael M. Felemban, Abdullah Alfaifi, Fatima Rahman, Marilena Christoforou, Shazia Maqbool, Julian A. Martinez-Agosto, Hessa S. Alsaif, Mais Hashem, Rana Helaby, Ahood Alsulaiman, Reza Maroofian, Henry Houlden, Stefan T. Arold, Leena A. Ibrahim, Zhe Han, Fowzan S. Alkuraya, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves A. Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa Ahmed Hamed, Mohamed A. Abd El Hamed, Samson Khachatryan, Ulviyya Guliyeva, Sughra Guliyeva, Kamran Salayev, Georgia Xiromerisiou, Liana Fidani, Cleanthe Spanaki, Mhammed Aguennouz, Gabriella Silvestri, Chingiz Shashkin, Nazira Zharkynbekova, Kairgali Koneyev, Abdullah Al-Ajmi, Shen-Yang Lim, Farooq Shaikh, Mohamed El Khorassani, Arn M.J.M. van den Maagdenberg, Njideka U. Okubadejo, Oluwadamilola O. Ojo, Kolawole Wahab, Abiodun H. Bello, Sanni Abubakar, Yahaya Obiabo, Ernest Nwazor, Oluchi Ekenze, Uduak Williams, Alagoma Iyagba, Lolade Taiwo, Morenikeji Komolafe, Olapeju Oguntunde, Konstantin Senkevich, Ganieva Manizha, Maksud Isrofilov, Erin Torti, Maha Zaki, Hoda Tomoum, Amira Nabil, Paola Nicolaides, Shahzad Haider, Dana Hasbini, Chadi el Alam, Mona Huneineh, Faisal Zafar, Erum Afzal, Ilyas Muhammad, Atchayaram Nalini, Sofia Bakhtaze, Shahid Baig, Ben Issa, Chahnez Triki, Mussa Bassam, Dana Craiou, Meriem Tazir, Lamia Ali Patcha, Nebal Waill Saadi, Hanene Benrhouma, Payam Saraf, Khalid Hama Salih, Awatif

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