Mutations in INPP5E , encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
Al-Gazali, Lihadh, Silhavy, Jennifer L, Kayserili, Hulya, Fazzi, Elisa, Bertini, Enrico, Bayoumi, Riad A, Abdel-Aleem, Alice, Travaglini, Lorena, Valente, Enza Maria, Gleeson, Joseph G, Field, Seth J, Sztriha, Laszlo, Boltshauser, Eugen, Majerus, Philip W, Brancati, Francesco, Schurmans, Stephane, Scott, Lesley C, Gayral, Stephanie, Jacoby, Monique, Dallapiccola, Bruno, Bielas, Stephanie L, Kisseleva, Marina V, Rosti, Rasim Ozgur, Swistun, Dominika, Zaki, Maha S
Published in Nature genetics (01.09.2009)
Published in Nature genetics (01.09.2009)
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Journal Article
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, Çağlayan, Ahmet Okay, Vajsar, Jiri, Bilgüvar, Kaya, Ogur, Gonul, Abou Jamra, Rami, Günel, Murat, Gleeson, Joseph G.
Published in American journal of human genetics (03.11.2016)
Published in American journal of human genetics (03.11.2016)
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Journal Article
Mutations in CSPP1 Lead to Classical Joubert Syndrome
Akizu, Naiara, Silhavy, Jennifer L., Rosti, Rasim Ozgur, Scott, Eric, Fenstermaker, Ali G., Schroth, Jana, Zaki, Maha S., Sanchez, Henry, Gupta, Neerja, Kabra, Madhulika, Kara, Majdi, Ben-Omran, Tawfeg, Rosti, Basak, Guemez-Gamboa, Alicia, Spencer, Emily, Pan, Roger, Cai, Na, Abdellateef, Mostafa, Gabriel, Stacey, Halbritter, Jan, Hildebrandt, Friedhelm, van Bokhoven, Hans, Gunel, Murat, Gleeson, Joseph G.
Published in American journal of human genetics (02.01.2014)
Published in American journal of human genetics (02.01.2014)
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Journal Article
Angelman syndrome: clinical findings and follow-up data of 14 patients
Kara, Bülent, Karaman, Birsen, Ozmen, Meral, Rosti, Rasim Ozgür, Calişkan, Mine, Kayserili, Hülya, Başaran, Seher
Published in Turkish journal of pediatrics (01.03.2008)
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Published in Turkish journal of pediatrics (01.03.2008)
Journal Article
Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients
Kayserili, Hülya, Altunoglu, Umut, Yesil, Gozde, Rosti, Rasim Özgür
Published in American journal of medical genetics. Part A (01.06.2016)
Published in American journal of medical genetics. Part A (01.06.2016)
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Journal Article
Teratogenicity of Antiepileptic Drugs
Güveli, Betül Tekin, Rosti, Rasim Özgür, Güzeltaş, Alper, Tuna, Elif Bahar, Ataklı, Dilek, Sencer, Serra, Yekeler, Ensar, Kayserili, Hülya, Dirican, Ahmet, Bebek, Nerses, Baykan, Betül, Gökyiğit, Ayşen, Gürses, Candan
Published in Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology (28.02.2017)
Published in Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology (28.02.2017)
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Journal Article
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome
Guemez-Gamboa, Alicia, Nguyen, Long N, Yang, Hongbo, Zaki, Maha S, Kara, Majdi, Ben-Omran, Tawfeg, Akizu, Naiara, Rosti, Rasim Ozgur, Rosti, Basak, Scott, Eric, Schroth, Jana, Copeland, Brett, Vaux, Keith K, Cazenave-Gassiot, Amaury, Quek, Debra Q Y, Wong, Bernice H, Tan, Bryan C, Wenk, Markus R, Gunel, Murat, Gabriel, Stacey, Chi, Neil C, Silver, David L, Gleeson, Joseph G
Published in Nature genetics (01.07.2015)
Published in Nature genetics (01.07.2015)
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Journal Article
CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration
Schaffer, Ashleigh E., Eggens, Veerle R.C., Caglayan, Ahmet Okay, Reuter, Miriam S., Scott, Eric, Coufal, Nicole G., Silhavy, Jennifer L., Xue, Yuanchao, Kayserili, Hulya, Yasuno, Katsuhito, Rosti, Rasim Ozgur, Abdellateef, Mostafa, Caglar, Caner, Kasher, Paul R., Cazemier, J. Leonie, Weterman, Marian A., Cantagrel, Vincent, Cai, Na, Zweier, Christiane, Altunoglu, Umut, Satkin, N. Bilge, Aktar, Fesih, Tuysuz, Beyhan, Yalcinkaya, Cengiz, Caksen, Huseyin, Bilguvar, Kaya, Fu, Xiang-Dong, Trotta, Christopher R., Gabriel, Stacey, Reis, André, Gunel, Murat, Baas, Frank, Gleeson, Joseph G.
Published in Cell (24.04.2014)
Published in Cell (24.04.2014)
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Journal Article
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas
Bal, Elodie, Park, Hyun-Sook, Belaid-Choucair, Zakia, Kayserili, Hülya, Naville, Magali, Madrange, Marine, Chiticariu, Elena, Hadj-Rabia, Smail, Cagnard, Nicolas, Kuonen, Francois, Bachmann, Daniel, Huber, Marcel, Le Gall, Cindy, Côté, Francine, Hanein, Sylvain, Rosti, Rasim Özgür, Aslanger, Ayca Dilruba, Waisfisz, Quinten, Bodemer, Christine, Hermine, Olivier, Morice-Picard, Fanny, Labeille, Bruno, Caux, Frédéric, Mazereeuw-Hautier, Juliette, Philip, Nicole, Levy, Nicolas, Taieb, Alain, Avril, Marie-Françoise, Headon, Denis J, Gyapay, Gabor, Magnaldo, Thierry, Fraitag, Sylvie, Crollius, Hugues Roest, Vabres, Pierre, Hohl, Daniel, Munnich, Arnold, Smahi, Asma
Published in Nature Medicine (01.10.2017)
Published in Nature Medicine (01.10.2017)
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Journal Article
Magazine Article
AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder
Akizu, Naiara, Cantagrel, Vincent, Schroth, Jana, Cai, Na, Vaux, Keith, McCloskey, Douglas, Naviaux, Robert K., Van Vleet, Jeremy, Fenstermaker, Ali G., Silhavy, Jennifer L., Scheliga, Judith S., Toyama, Keiko, Morisaki, Hiroko, Sonmez, Fatma M., Celep, Figen, Oraby, Azza, Zaki, Maha S., Al-Baradie, Raidah, Faqeih, Eissa A., Saleh, Mohammed A.M., Spencer, Emily, Rosti, Rasim Ozgur, Scott, Eric, Nickerson, Elizabeth, Gabriel, Stacey, Morisaki, Takayuki, Holmes, Edward W., Gleeson, Joseph G.
Published in Cell (01.08.2013)
Published in Cell (01.08.2013)
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Journal Article
Ataxia with vitamin E deficiency associated with deafness
Kara, Bülent, Uzümcü, Abdullah, Uyguner, Oya, Rosti, Rasim Ozgür, Koçbaş, Ayça, Ozmen, Meral, Kayserili, Hülya
Published in Turkish journal of pediatrics (01.09.2008)
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Published in Turkish journal of pediatrics (01.09.2008)
Journal Article
A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly
Karaman, Birsen, Rosti, Rasim Ozgür, Yilmaz, Kader, Oztürk, Havva, Kayserili, Hülya, Başaran, Seher
Published in Turkish journal of pediatrics (01.11.2009)
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Published in Turkish journal of pediatrics (01.11.2009)
Journal Article
Whole-Exome Sequencing Identifies Mutated C12orf57 in Recessive Corpus Callosum Hypoplasia
Akizu, Naiara, Shembesh, Nuri M., Ben-Omran, Tawfeg, Bastaki, Laila, Al-Tawari, Asma, Zaki, Maha S., Koul, Roshan, Spencer, Emily, Rosti, Rasim Ozgur, Scott, Eric, Nickerson, Elizabeth, Gabriel, Stacey, da Gente, Gilberto, Li, Jiang, Deardorff, Matthew A., Conlin, Laura K., Horton, Margaret A., Zackai, Elaine H., Sherr, Elliott H., Gleeson, Joseph G.
Published in American journal of human genetics (07.03.2013)
Published in American journal of human genetics (07.03.2013)
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Journal Article
Novel STAMBP mutation and additional findings in an Arabic family
Faqeih, Eissa A., Bastaki, Laila, Rosti, Rasim Ozgur, Spencer, Emily G., Zada, AbdulAli P., Saleh, Mohammad A. M., Um, Kyongmi, Gleeson, Joseph G.
Published in American journal of medical genetics. Part A (01.04.2015)
Published in American journal of medical genetics. Part A (01.04.2015)
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Journal Article
TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family
Maraş-Genç, Hülya, Uyur-Yalçın, Emek, Rosti, Rasim Özgür, Gleeson, Joseph G, Kara, Bülent
Published in Turkish journal of pediatrics (01.05.2015)
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Published in Turkish journal of pediatrics (01.05.2015)
Journal Article
Molecular Classification of Diffuse Large B Cell Lymphoma
Whitehair, Rachel, Rosti, Rasim Ozgur, Obiorah, Ifeyinwa E.
Published in Advances in Molecular Pathology (01.11.2023)
Published in Advances in Molecular Pathology (01.11.2023)
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Journal Article
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
Published in Journal of medical genetics (01.06.2017)
Published in Journal of medical genetics (01.06.2017)
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Journal Article
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, Çağlayan, 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, Gabriel, Stacey B, Gunel, Murat, Valente, Enza Maria, Nassogne, Marie-Cecile, Bennett, Eric J, Yeo, Gene W, Baas, Frank, Lykke-Andersen, Jens, Gleeson, Joseph G
Published in Nature genetics (01.03.2017)
Published in Nature genetics (01.03.2017)
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Journal Article