Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors by Mishra-Gorur, Ketu, Çağlayan, Ahmet Okay, Schaffer, Ashleigh E, Chabu, Chiswili, Henegariu, Octavian, Vonhoff, Fernando, Akgümüş, Gözde Tuğce, Nishimura, Sayoko, Han, Wenqi, Tu, Shu, Baran, Burçin, Gümüş, Hakan, Dilber, Cengiz, Zaki, Maha S, Hossni, Heba A A, Rivière, Jean-Baptiste, Kayserili, Hülya, Spencer, Emily G, Rosti, Rasim Ö, Schroth, Jana, Per, Hüseyin, Çağlar, Caner, Çağlar, Çağri, Dölen, Duygu, Baranoski, Jacob F, Kumandaş, Sefer, Minja, Frank J, Erson-Omay, E Zeynep, Mane, Shrikant M, Lifton, Richard P, Xu, Tian, Keshishian, Haig, Dobyns, William B, Chi, Neil C, Šestan, Nenad, Louvi, Angeliki, Bilgüvar, Kaya, Yasuno, Katsuhito, Gleeson, Joseph G, Günel, Murat

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Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders by Novarino, Gaia, Fenstermaker, Ali G., Zaki, Maha S., Hofree, Matan, Silhavy, Jennifer L., Heiberg, Andrew D., Abdellateef, Mostafa, Rosti, Basak, Scott, Eric, Mansour, Lobna, Masri, Amira, Kayserili, Hulya, Al-Aama, Jumana Y., Abdel-Salam, Ghada M. H., Karminejad, Ariana, Kara, Majdi, Kara, Bulent, Bozorgmehri, Bita, Ben-Omran, Tawfeg, Mojahedi, Faezeh, Mahmoud, Iman Gamal El Din, Bouslam, Naima, Bouhouche, Ahmed, Benomar, Ali, Hanein, Sylvain, Raymond, Laure, Forlani, Sylvie, Mascaro, Massimo, Selim, Laila, Shehata, Nabil, Al-Allawi, Nasir, Bindu, P.S., Azam, Matloob, Gunel, Murat, Caglayan, Ahmet, Bilguvar, Kaya, Tolun, Aslihan, Issa, Mahmoud Y., Schroth, Jana, Spencer, Emily G., Rosti, Rasim O., Akizu, Naiara, Vaux, Keith K., Johansen, Anide, Koh, Alice A., Megahed, Hisham, Durr, Alexandra, Brice, Alexis, Stevanin, Giovanni, Gabriel, Stacy B., Ideker, Trey, Gleeson, Joseph G.

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Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features by 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 NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly by Wang, Lu, Li, Zhen, Sievert, David, Smith, Desirée E. C., Mendes, Marisa I., Chen, Dillon Y., Stanley, Valentina, Ghosh, Shereen, Wang, Yulu, Kara, Majdi, Aslanger, Ayca Dilruba, Rosti, Rasim O., Houlden, Henry, Salomons, Gajja S., Gleeson, Joseph G.

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Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly by Li, Hongda, Bielas, Stephanie L., Zaki, Maha S., Ismail, Samira, Farfara, Dorit, Um, Kyongmi, Rosti, Rasim O., Scott, Eric C., Tu, Shu, Chi, Neil C., Gabriel, Stacey, Erson-Omay, Emine Z., Ercan-Sencicek, A. Gulhan, Yasuno, Katsuhito, Çağlayan, Ahmet Okay, Kaymakçalan, Hande, Ekici, Barış, Bilguvar, Kaya, Gunel, Murat, Gleeson, Joseph G.

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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects by Manole, Andreea, Efthymiou, Stephanie, O’Connor, Emer, Mendes, Marisa I., Jennings, Matthew, Maroofian, Reza, Davagnanam, Indran, Mankad, Kshitij, Lopez, Maria Rodriguez, Salpietro, Vincenzo, Harripaul, Ricardo, Badalato, Lauren, Walia, Jagdeep, Francklyn, Christopher S., Athanasiou-Fragkouli, Alkyoni, Sullivan, Roisin, Desai, Sonal, Baranano, Kristin, Zafar, Faisal, Rana, Nuzhat, Ilyas, Muhammed, Horga, Alejandro, Kara, Majdi, Mattioli, Francesca, Goldenberg, Alice, Griffin, Helen, Piton, Amelie, Henderson, Lindsay B., Kara, Benyekhlef, Aslanger, Ayca Dilruba, Raaphorst, Joost, Pfundt, Rolph, Portier, Ruben, Shinawi, Marwan, Kirby, Amelia, Christensen, Katherine M., Wang, Lu, Rosti, Rasim O., Paracha, Sohail A., Sarwar, Muhammad T., Jenkins, Dagan, Ahmed, Jawad, Santoni, Federico A., Ranza, Emmanuelle, Iwaszkiewicz, Justyna, Cytrynbaum, Cheryl, Weksberg, Rosanna, Wentzensen, Ingrid M., Guillen Sacoto, Maria J., Si, Yue, Telegrafi, Aida, Andrews, Marisa V., Baldridge, Dustin, Gabriel, Heinz, Mohr, Julia, Oehl-Jaschkowitz, Barbara, Debard, Sylvain, Senger, Bruno, Fischer, Frédéric, van Ravenwaaij, Conny, Fock, Annemarie J.M., Stevens, Servi J.C., Bähler, Jürg, Nasar, Amina, Mantovani, John F., Manzur, Adnan, Sarkozy, Anna, Smith, Desirée E.C., Salomons, Gajja S., Ahmed, Zubair M., Riazuddin, Shaikh, Riazuddin, Saima, Usmani, Muhammad A., Seibt, Annette, Ansar, Muhammad, Antonarakis, Stylianos E., Vincent, John B., Ayub, Muhammad, Grimmel, Mona, Jelsig, Anne Marie, Hjortshøj, Tina Duelund, Karstensen, Helena Gásdal, Hummel, Marybeth, Haack, Tobias B., Jamshidi, Yalda, Distelmaier, Felix, Horvath, Rita, Gleeson, Joseph G., Becker, Hubert, Mandel, Jean-Louis, Koolen, David A., Houlden, Henry

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The genetic landscape of autism spectrum disorders by Rosti, Rasim O, Sadek, Abdelrahim A, Vaux, Keith K, Gleeson, Joseph G

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Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly by Breuss, Martin W., Sultan, Tipu, James, Kiely N., Rosti, Rasim O., Scott, Eric, Musaev, Damir, Furia, Bansri, Reis, André, Sticht, Heinrich, Al-Owain, Mohammed, Alkuraya, Fowzan S., Reuter, Miriam S., Abou Jamra, Rami, Trotta, Christopher R., Gleeson, Joseph G.

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Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome by Roosing, Susanne, Rosti, Rasim O., Rosti, Basak, de Vrieze, Erik, Silhavy, Jennifer L., van Wijk, Erwin, Wakeling, Emma, Gleeson, Joseph G.

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Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly by Wang, Lu, Li, Zhen, Sievert, David, Smith, Desirée E. C., Mendes, Marisa I., Chen, Dillon Y., Stanley, Valentina, Ghosh, Shereen, Wang, Yulu, Kara, Majdi, Aslanger, Ayca Dilruba, Rosti, Rasim O., Houlden, Henry, Salomons, Gajja S., Gleeson, Joseph G.

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Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly by Breuss, Martin W., Sultan, Tipu, James, Kiely N., Rosti, Rasim O., Scott, Eric, Musaev, Damir, Furia, Bansri, Reis, André, Sticht, Heinrich, Al-Owain, Mohammed, Alkuraya, Fowzan S., Reuter, Miriam S., Abou Jamra, Rami, Trotta, Christopher R., Gleeson, Joseph G.

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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome by Roosing, Susanne, Hofree, Matan, Kim, Sehyun, Scott, Eric, Copeland, Brett, Romani, Marta, Silhavy, Jennifer L, Rosti, Rasim O, Schroth, Jana, Mazza, Tommaso, Miccinilli, Elide, Zaki, Maha S, Swoboda, Kathryn J, Milisa-Drautz, Joanne, Dobyns, William B, Mikati, Mohamed A, İncecik, Faruk, Azam, Matloob, Borgatti, Renato, Romaniello, Romina, Boustany, Rose-Mary, Clericuzio, Carol L, D'Arrigo, Stefano, Strømme, Petter, Boltshauser, Eugen, Stanzial, Franco, Mirabelli-Badenier, Marisol, Moroni, Isabella, Bertini, Enrico, Emma, Francesco, Steinlin, Maja, Hildebrandt, Friedhelm, Johnson, Colin A, Freilinger, Michael, Vaux, Keith K, Gabriel, Stacey B, Aza-Blanc, Pedro, Heynen-Genel, Susanne, Ideker, Trey, Dynlacht, Brian D, Lee, Ji Eun, Valente, Enza Maria, Kim, Joon, Gleeson, Joseph G

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Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene by Rosti, Rasim O., Dikoglu, Esra, Zaki, Maha S., Abdel-Salam, Ghada, Makhseed, Nawal, Sese, Jordan C., Musaev, Damir, Rosti, Basak, Harbert, Mary J., Jones, Marilyn C., Vaux, Keith K., Gleeson, Joseph G.

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Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer by Webster, Andrew L. H., Sanders, Mathijs A., Patel, Krupa, Dietrich, Ralf, Noonan, Raymond J., Lach, Francis P., White, Ryan R., Goldfarb, Audrey, Hadi, Kevin, Edwards, Matthew M., Donovan, Frank X., Hoogenboezem, Remco M., Jung, Moonjung, Sridhar, Sunandini, Wiley, Tom F., Fedrigo, Olivier, Tian, Huasong, Rosiene, Joel, Heineman, Thomas, Kennedy, Jennifer A., Bean, Lorenzo, Rosti, Rasim O., Tryon, Rebecca, Gonzalez, Ashlyn-Maree, Rosenberg, Allana, Luo, Ji-Dung, Carroll, Thomas S., Shroff, Sanjana, Beaumont, Michael, Velleuer, Eunike, Rastatter, Jeff C., Wells, Susanne I., Surrallés, Jordi, Bagby, Grover, MacMillan, Margaret L., Wagner, John E., Cancio, Maria, Boulad, Farid, Scognamiglio, Theresa, Vaughan, Roger, Beaumont, Kristin G., Koren, Amnon, Imielinski, Marcin, Chandrasekharappa, Settara C., Auerbach, Arleen D., Singh, Bhuvanesh, Kutler, David I., Campbell, Peter J., Smogorzewska, Agata

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Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors by Mishra-Gorur, Ketu, Çağlayan, Ahmet Okay, Schaffer, Ashleigh E., Chabu, Chiswili, Henegariu, Octavian, Vonhoff, Fernando, Akgümüş, Gözde Tuğce, Nishimura, Sayoko, Han, Wenqi, Tu, Shu, Baran, Burçin, Gümüş, Hakan, Dilber, Cengiz, Zaki, Maha S., Hossni, Heba A.A., Rivière, Jean-Baptiste, Kayserili, Hülya, Spencer, Emily G., Rosti, Rasim Ö., Schroth, Jana, Per, Hüseyin, Çağlar, Caner, Çağlar, Çağri, Dölen, Duygu, Baranoski, Jacob F., Kumandaş, Sefer, Minja, Frank J., Erson-Omay, E. Zeynep, Mane, Shrikant M., Lifton, Richard P., Xu, Tian, Keshishian, Haig, Dobyns, William B., Chi, Neil C., Šestan, Nenad, Louvi, Angeliki, Bilgüvar, Kaya, Yasuno, Katsuhito, Gleeson, Joseph G., Günel, Murat

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Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemia by Jung, Moonjung, Mehta, Parinda A., Jiang, Caroline S., Rosti, Rasim O., Usleaman, Gabriel, Correa da Rosa, Joel M., Lach, Francis P., Goodridge, Erica, Auerbach, Arleen D., Davies, Stella M., Smogorzewska, Agata, Boulad, Farid

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Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability by Breuss, Martin W, Nguyen, Thai, Srivatsan, Anjana, Leca, Ines, Tian, Guoling, Fritz, Tanja, Hansen, Andi H, Musaev, Damir, McEvoy-Venneri, Jennifer, James, Kiely N, Rosti, Rasim O, Scott, Eric, Tan, Uner, Kolodner, Richard D, Cowan, Nicholas J, Keays, David A, Gleeson, Joseph G

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Gorlin-chaudhry-moss syndrome revisited: Expanding the phenotype by Rosti, Rasim O., Karaer, Kadri, Karaman, Birsen, Torun, Deniz, Guran, Sefik, Bahce, Muhterem

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Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly by Ismail, Samira, Schaffer, Ashleigh E., Rosti, Rasim O., Gleeson, Joseph G., Zaki, Maha S.

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Mutations inKATNB1Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors by Mishra-Gorur, Ketu, Çaglayan, Ahmet Okay, Schaffer, Ashleigh E, Chabu, Chiswili, Henegariu, Octavian, Vonhoff, Fernando, Akgümüs, Gözde Tugce, Nishimura, Sayoko, Han, Wenqi, Tu, Shu, Baran, Burçin, Gümüs, Hakan, Dilber, Cengiz, Zaki, Maha S, Hossni, Heba AA, Rivière, Jean-Baptiste, Kayserili, Hülya, Spencer, Emily G, Rosti, Rasim Ö, Schroth, Jana, Per, Hüseyin, Çaglar, Caner, Çaglar, Çagri, Dölen, Duygu, Baranoski, Jacob F, Kumandas, Sefer, Minja, Frank J, Erson-Omay, E Zeynep, Mane, Shrikant M, Lifton, Richard P, Xu, Tian, Keshishian, Haig, Dobyns, William B, Chi, Neil C, Sestan, Nenad, Louvi, Angeliki, Bilgüvar, Kaya, Yasuno, Katsuhito, Gleeson, Joseph G, Günel, Murat

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