R
Rasim Ozgur Rosti
Researcher at University of California, San Diego
Publications - 5
Citations - 885
Rasim Ozgur Rosti is an academic researcher from University of California, San Diego. The author has contributed to research in topics: Pontocerebellar hypoplasia & Exome. The author has an hindex of 5, co-authored 5 publications receiving 749 citations. Previous affiliations of Rasim Ozgur Rosti include Children's Institute Inc. & Howard Hughes Medical Institute.
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Journal ArticleDOI
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Gaia Novarino,Ali G. Fenstermaker,Maha S. Zaki,Matan Hofree,Jennifer L. Silhavy,Andrew Heiberg,Mostafa Abdellateef,Basak Rosti,Eric Scott,Lobna Mansour,Amira Masri,Hülya Kayserili,Jumana Y. Al-Aama,Ghada M H Abdel-Salam,Ariana Karminejad,Majdi Kara,Bülent Kara,Bita Bozorgmehri,Tawfeg Ben-Omran,Faezeh Mojahedi,Iman G. Mahmoud,Naima Bouslam,Ahmed Bouhouche,Ali Benomar,Sylvain Hanein,Laure Raymond,Sylvie Forlani,Massimo Mascaro,Laila Selim,Nabil Shehata,Nasir A. S. Al-Allawi,Parayil Sankaran Bindu,Matloob Azam,Murat Gunel,Ahmet Okay Caglayan,Kaya Bilguvar,Aslıhan Tolun,Mahmoud Y. Issa,Jana Schroth,Emily Spencer,Rasim Ozgur Rosti,Naiara Akizu,Keith K. Vaux,Anide Johansen,Alice A. Koh,Hisham Megahed,Alexandra Durr,Alexis Brice,Giovanni Stevanin,S. Gabriel,Trey Ideker,Joseph G. Gleeson +51 more
TL;DR: Using whole-exome sequencing in combination with network analysis, 18 previously unknown putative HSP genes are identified and validated and link HSP to other neurodegenerative disorders and can facilitate gene discovery and mechanistic understanding of disease.
Journal ArticleDOI
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.
Ashleigh E. Schaffer,Veerle Rc Eggens,Ahmet Okay Caglayan,Miriam S. Reuter,Eric Scott,Nicole G. Coufal,Jennifer L. Silhavy,Yuanchao Xue,Hülya Kayserili,Katsuhito Yasuno,Rasim Ozgur Rosti,Mostafa Abdellateef,Caner Çağlar,Paul R. Kasher,J. Leonie Cazemier,Marian A. J. Weterman,Vincent Cantagrel,Vincent Cantagrel,Na Cai,Christiane Zweier,Umut Altunoglu,N. Bilge Satkin,Fesih Aktar,Beyhan Tüysüz,Cengiz Yalcinkaya,Hüseyin Çaksen,Kaya Bilguvar,Xiang-Dong Fu,Christopher R. Trotta,Stacey Gabriel,André Reis,Murat Gunel,Frank Baas,Joseph G. Gleeson +33 more
TL;DR: The data link tRNA maturation to neuronal development and neurodegeneration through defective CLP1 function in humans through impaired pre-tRNA cleavage.
Journal ArticleDOI
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Naiara Akizu,Vincent Cantagrel,Maha S. Zaki,Lihadh Al-Gazali,Xin Wang,Rasim Ozgur Rosti,Esra Dikoglu,Antoinette Gelot,Basak Rosti,Keith K. Vaux,Eric Scott,Jennifer L. Silhavy,Jana Schroth,Brett Copeland,Ashleigh E. Schaffer,Philip L.S.M. Gordts,Jeffrey D. Esko,Matthew D. Buschman,Seth J. Field,Gennaro Napolitano,Ghada M H Abdel-Salam,R. Köksal Özgül,Mahmut Şamil Sağıroğlu,Matloob Azam,Samira Ismail,Mona Aglan,Laila Selim,Iman G. Mahmoud,Sawsan Abdel-Hadi,Amera El Badawy,Abdelrahim Abdrabou Sadek,Faezeh Mojahedi,Hülya Kayserili,Amira Masri,Laila Bastaki,Samia A. Temtamy,Ulrich Müller,Isabelle Desguerre,Jean-Laurent Casanova,Ali Dursun,Murat Gunel,Stacey Gabriel,Pascale de Lonlay,Joseph G. Gleeson +43 more
TL;DR: A new clinically distinguishable recessive syndrome in 12 families with cerebellar atrophy together with ataxia, coarsened facial features and intellectual disability is described, due to truncating mutations in the sorting nexin gene SNX14, encoding a ubiquitously expressed modular PX domain–containing sorting factor.
Journal ArticleDOI
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Rea M. Lardelli,Ashleigh E. Schaffer,Ashleigh E. Schaffer,Veerle Rc Eggens,Maha S. Zaki,Stephanie Grainger,Shashank Sathe,Eric L. Van Nostrand,Zinayida Schlachetzki,Basak Rosti,Naiara Akizu,Eric Scott,Jennifer L. Silhavy,Laura Dean Heckman,Rasim Ozgur Rosti,Esra Dikoglu,Anne Gregor,Alicia Guemez-Gamboa,Damir Musaev,Rohit Mande,Ari Widjaja,Timothy Shaw,Sebastian Markmiller,Isaac Marin-Valencia,Justin H Davies,Linda De Meirleir,Hülya Kayserili,Umut Altunoglu,Mary Louise Freckmann,Linda Warwick,David Chitayat,Susan Blaser,Ahmet Okay Caglayan,Ahmet Okay Caglayan,Kaya Bilguvar,Hüseyin Per,Christina Fagerberg,Henrik Thybo Christesen,Maria Kibaek,Kimberly A. Aldinger,David K. Manchester,Naomichi Matsumoto,Kazuhiro Muramatsu,Hirotomo Saitsu,Hirotomo Saitsu,Masaaki Shiina,Kazuhiro Ogata,Nicola Foulds,William B. Dobyns,Neil C. Chi,David Traver,Luigina Spaccini,Stefania Maria Bova,Stacey Gabriel,Murat Gunel,Enza Maria Valente,Marie-Cécile Nassogne,Eric J. Bennett,Gene W. Yeo,Gene W. Yeo,Frank Baas,Jens Lykke-Andersen,Joseph G. Gleeson,Joseph G. Gleeson +63 more
TL;DR: The cause of a neurodegenerative syndrome linked to snRNA maturation is identified and a key factor involved in the processing of snRNA 3′ ends is uncovered.
Journal ArticleDOI
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
Martin W. Breuss,Martin W. Breuss,Tipu Sultan,Kiely N. James,Kiely N. James,Rasim Ozgur Rosti,Rasim Ozgur Rosti,Eric Scott,Eric Scott,Damir Musaev,Damir Musaev,Bansri Furia,André Reis,Heinrich Sticht,Mohammed Al-Owain,Fowzan S. Alkuraya,Fowzan S. Alkuraya,Miriam S. Reuter,Rami Abou Jamra,Rami Abou Jamra,Christopher R. Trotta,Joseph G. Gleeson,Joseph G. Gleeson +22 more
TL;DR: The results demonstrate that mutations in any known subunit of the TSEN complex can cause PCH and progressive microcephaly, emphasizing the importance of its function during brain development.