未登录 Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas (vol 23, pg 1226, 2017) ACTRT1及其增强子RNA元件的突变导致遗传性和散发性基底细胞癌中Hedgehog信号通路的异常激活（卷23，页1226，2017）。 Bal, Elodie; Park, Hyun-Sook; Belaid-Choucair, Zakia; Kayserili, Huelya; Naville, Magali; Madrange, Marine; Chiticariu, Elena; Hadj-Rabia, Smail; Cagnard, Nicolas; Kuonen, Francois; Bachmann, Daniel; Huber, Marcel; Le Gall, Cindy; Cote, Francine; Hanein, Sylvain; Rosti, Rasim oezguer; Aslanger, Ayca Dilruba; Waisfisz, Quinten; Bodemer, Christine; Hermine, Olivier; Morice-Picard, Fanny; Labeille, Bruno; Caux, Frederic; Mazereeuw-Hautier, Juliette; Philip, Nicole; Levy, Nicolas; Taieb, Alain; Avril, Marie-Francoise; Headon, Denis J.; Gyapay, Gabor; Magnaldo, Thierry; Fraitag, Sylvie; Crollius, Hugues Roest; Vabres, Pierre; Hohl, Daniel; Munnich, Arnold; Smahi, Asma 分享 收藏
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Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly (vol 11, 4038, 2020) Wang, Lu; Li, Zhen; Sievert, David; Smith, Desiree 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. 分享 收藏
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly Wang, Lu; Li, Zhen; Sievert, David; Smith, Desiree 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. 分享 收藏
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects 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.; Sacoto, Maria J. Guillen; Si, Yue; Telegrafi, Aida; Andrews, Marisa, V; Baldridge, Dustin; Gabriel, Heinz; Mohr, Julia; Oehl-Jaschkowitz, Barbara; Debard, Sylvain; Senger, Bruno; Fischer, Frederic; van Ravenwaaij, Conny; Fock, Annemarie J. M.; Stevens, Servi J. C.; Bahler, Jurg; Nasar, Amina; Mantovani, John F.; Manzur, Adnan; Sarkozy, Anna; Smith, Desiree 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; Hjortshoj, Tina Duelund; Karstensen, Helena Gasdal; Hummel, Marybeth; Haack, Tobias B.; Jamshidi, Yalda; Distelmaier, Felix; Horvath, Rita; Gleeson, Joseph G.; Becker, Hubert; Mandel, Jean-Louis; Koolen, David A.; Houlden, Henry 分享 收藏
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome Guemez-Gamboa, Alicia; Caglayan, Ahmet Okay; Stanley, Valentina; Gregor, Anne; Zaki, Maha S.; Saleem, Sahar N.; Musaev, Damir; McEvoy-Venneri, Jennifer; Belandres, Denice; Akizu, Naiara; Silhavy, Jennifer L.; Schroth, Jana; Rosti, Rasim Ozgur; Copeland, Brett; Lewis, Steven M.; Fang, Rebecca; Issa, Mahmoud Y.; Per, Huseyin; Gumus, Hakan; Bayram, Ayse Kacar; Kumandas, Sefer; Akgumus, Gozde Tugce; Erson-Omay, Emine Z.; Yasuno, Katsuhito; Bilguvar, Kaya; Heimer, Gali; Pillar, Nir; Shomron, Noam; Weissglas-Volkov, Daphna; Porat, Yuval; Einhorn, Yaron; Gabriel, Stacey; Ben-Zeev, Bruria; Gunel, Murat; Gleeson, Joseph G. 分享 收藏
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas ACTRT1及其增强子RNA元件的突变导致遗传性和散发性基底细胞癌中Hedgehog信号的异常激活 Bal, Elodie; Park, Hyun-Sook; Belaid-Choucair, Zakia; Kayserili, Hulya; Naville, Magali; Madrange, Marine; Chiticariu, Elena; Hadj-Rabia, Smail; Cagnard, Nicolas; Kuonen, Francois; Bachmann, Daniel; Huber, Marcel; Le Gall, Cindy; Cote, Francine; Hanein, Sylvain; Rosti, Rasim Ozgur; Aslanger, Ayca Dilruba; Waisfisz, Quinten; Bodemer, Christine; Hermine, Olivier; Morice-Picard, Fanny; Labeille, Bruno; Caux, Frederic; Mazereeuw-Hautier, Juliette; Philip, Nicole; Levy, Nicolas; Taieb, Alain; Avril, Marie-Francoise; Headon, Denis J.; Gyapay, Gabor; Magnaldo, Thierry; Fraitag, Sylvie; Roest Crollius, Hugues; Vabres, Pierre; Hohl, Daniel; Munnich, Arnold; Smahi, Asma 分享 收藏
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features Marin-Valencia, Isaac; Novarino, Gaia; Johansen, Anide; Rosti, Basak; Issa, Mahmoud Y.; Musaev, Damir; Bhat, Gifty; Scott, Eric; Silhavy, Jennifer L.; Stanley, Valentina; Rosti, Rasim O.; Gleeson, Jeremy W.; Imam, Farhad B.; Zaki, Maha S.; Gleeson, Joseph G. 分享 收藏
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome Rosti, Rasim Ozgur; Sotak, Bethany N.; Bielas, Stephanie L.; Bhat, Gifty; Silhavy, Jennifer L.; Aslanger, Ayca Dilruba; Altunoglu, Umut; Bilge, Ilmay; Tasdemir, Mehmet; Yzaguirrem, Amanda D.; Musaev, Damir; Infante, Sofia; Thuong, Whitney; Marin-Valencia, Isaac; Nelson, Stanley F.; Kayserili, Hulya; Gleeson, Joseph G. 分享 收藏
Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing Lardelli, Rea M.; Schaffer, Ashleigh E.; Eggens, Veerle R. C.; Zaki, Maha S.; Grainger, Stephanie; Sathe, Shashank; Van Nostrand, Eric L.; Schlachetzki, Zinayida; Rosti, Basak; Akizu, Naiara; Scott, Eric; Silhavy, Jennifer L.; Heckman, Laura Dean; Rosti, Rasim Ozgur; Dikoglu, Esra; Gregor, Anne; Guemez-Gamboa, Alicia; Musaev, Damir; Mande, Rohit; Widjaja, Ari; Shaw, Tim L.; Markmiller, Sebastian; Marin-Valencia, Isaac; Davies, Justin H.; de Meirleir, Linda; Kayserili, Hulya; Altunoglu, Umut; Freckmann, Mary Louise; Warwick, Linda; Chitayat, David; Blaser, Susan; Caglayan, Ahmet Okay; Bilguvar, Kaya; Per, Huseyin; Fagerberg, Christina; Christesen, Henrik T.; Kibaek, Maria; Aldinger, Kimberly A.; Manchester, David; Matsumoto, Naomichi; Muramatsu, Kazuhiro; Saitsu, Hirotomo; Shiina, Masaaki; Ogata, Kazuhiro; Foulds, Nicola; Dobyns, William B.; Chi, Neil C.; Traver, David; Spaccini, Luigina; Bova, Stefania Maria; Gabrie, Stacey B.; Gunel, Murat; Valente, Enza Maria; Nassogne, Marie-Cecile; Bennett, Eric J.; Yeo, Gene W.; Baas, Frank; Lykke-Andersen, Jens; Gleeson, Joseph G. 分享 收藏
Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability Breuss, Martin W.; Thai Nguyen; 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. 分享 收藏
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly Jerber, Julie; Zaki, Maha S.; Al-Aama, Jumana Y.; Rosti, Rasim Ozgur; Ben-Omran, Tawfeg; Dikoglu, Esra; Silhavy, Jennifer L.; Caglar, Caner; Musaev, Damir; Albrecht, Beate; Campbell, Kevin P.; Willer, Tobias; Almuriekhi, Mariam; Caglayan, Ahmet Okay; Vajsar, Jiri; Bilguvar, Kaya; Ogur, Gonul; Abou Jamra, Rami; Gunel, Murat; Gleeson, Joseph G. 分享 收藏
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features Johansen, Anide; Rosti, Rasim O.; Musaev, Damir; Sticca, Evan; Harripaul, Ricardo; Zaki, Maha; Caglayan, Ahmet Okay; Azam, Matloob; Sultan, Tipu; Froukh, Tawfiq; Reis, Andre; Popp, Bernt; Ahmed, Iltaf; John, Peter; Ayub, Muhammad; Ben-Omran, Tawfeg; Vincent, John B.; Gleeson, Joseph G.; Abou Jamra, Rami 分享 收藏
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly (vol 99, pg 228, 2016) Breuss, Martin W.; Sultan, Tipu; James, Kiely N.; Rosti, Rasim O.; Scott, Eric; Musaev, Damir; Furia, Bansri; Reis, Andre; Sticht, Heinrich; Al-Owain, Mohammed; Alkuraya, Fowzan S.; Reuter, Miriam S.; Abou Jamra, Rami; Trotta, Christopher R.; Gleeson, Joseph G. 分享 收藏
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly 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; Caglayan, Ahmet Okay; Kaymakcalan, Hande; Ekici, Baris; Bilguvar, Kaya; Gunel, Murat; Gleeson, Joseph G. 分享 收藏
Autosomal- Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly Breuss, Martin W.; Sultan, Tipu; James, Kiely N.; Rosti, Rasim O.; Scott, Eric; Musaev, Damir; Furia, Bansri; Reis, Andre; Sticht, Heinrich; Al-Owain, Mohammed; Alkuraya, Fowzan S.; Reuter, Miriam S.; Abou Jamra, Rami; Trotta, Christopher R.; Gleeson, Joseph G. 分享 收藏
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Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes Roosing, Susanne; Romani, Marta; Isrie, Mala; Rosti, Rasim Ozgur; Micalizzi, Alessia; Musaev, Damir; Mazza, Tommaso; Al-gazali, Lihadh; Altunoglu, Umut; Boltshauser, Eugen; D'Arrigo, Stefano; De Keersmaecker, Bart; Kayserili, Hulya; Brandenberger, Sarah; Kraoua, Ichraf; Mark, Paul R.; McKanna, Trudy; Van Keirsbilck, Joachim; Moerman, Philippe; Poretti, Andrea; Puri, Ratna; Van Esch, Hilde; Gleeson, Joseph G.; Valente, Enza Maria 分享 收藏
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome 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.; Incecik, Faruk; Azam, Matloob; Borgatti, Renato; Romaniello, Romina; Boustany, Rose-Mary; Clericuzio, Carol L.; D'Arrigo, Stefano; Stromme, 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. 分享 收藏
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