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Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
Author / Creator:Bielas, Stephanie L ; Silhavy, Jennifer L ; Brancati, Francesco ; Kisseleva, Marina V ; Al-Gazali, Lihadh ; Sztriha, Laszlo ; Bayoumi, Riad A ; Zaki, Maha S ; Abdel-Aleem, Alice ; Rosti, Rasim Ozgur ; Kayserili, Hulya ; Swistun, Dominika ; Scott, Lesley C ; Bertini, Enrico ; Boltshauser, Eugen ; Fazzi, Elisa ; Travaglini, Lorena ; Field, Seth J ; Gayral, Stephanie ; Jacoby, Monique ; Schurmans, Stephane ; Dallapiccola, Bruno ; Majerus, Philip W ; Valente, Enza Maria ; Gleeson, Joseph G
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2009-09, Vol.41 (9), p.1032-1036
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Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas
Author / Creator: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
Publisher:New York: Nature Publishing Group US
Journal title:Nature Medicine, 2017-10, Vol.23 (10), p.1226-1233
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Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome
Author / Creator: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
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2015-07, Vol.47 (7), p.809-813
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IMPACT OF CMA ON DIAGNOSIS AND CLINICAL MANAGEMENT OF NEONATES: A RETROSPECTIVE SINGLE CENTER STUDY OF A 10-YEAR COHORT
Author / Creator:Rosti, Ozgur ; Williams, Eli ; Fan, Jinbo
Publisher:US: Oxford University Press
Journal title:American journal of clinical pathology, 2023-11, Vol.160 (Supplement_1), p.S135-S135
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CytogeneticsTissue Fixation Significantly Impacts MLH1 Promoter Methylation Analysis: A Quality Improvement Study
Author / Creator:Park, Yongsang ; Yeboah, Bettie ; Rosti, Ozgur ; Williams, Eli ; Fan, Jinbo
Publisher:US: Oxford University Press
Journal title:American journal of clinical pathology, 2023-11, Vol.160 (Supplement_1), p.S136-S137
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Ataxia with vitamin E deficiency associated with deafness
Author / Creator:Kara, Bülent ; Uzümcü, Abdullah ; Uyguner, Oya ; Rosti, Rasim Ozgür ; Koçbaş, Ayça ; Ozmen, Meral ; Kayserili, Hülya
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2008-09, Vol.50 (5), p.471-475
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A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly
Author / Creator:Karaman, Birsen ; Rosti, Rasim Ozgür ; Yilmaz, Kader ; Oztürk, Havva ; Kayserili, Hülya ; Başaran, Seher
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2009-11, Vol.51 (6), p.613-616
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Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
Author / Creator: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
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2017-03, Vol.49 (3), p.457-464
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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
Author / Creator:Akizu, Naiara ; Cantagrel, Vincent ; Zaki, Maha S ; Al-Gazali, Lihadh ; Wang, Xin ; Rosti, Rasim Ozgur ; Dikoglu, Esra ; Gelot, Antoinette Bernabe ; Rosti, Basak ; Vaux, Keith K ; Scott, Eric M ; Silhavy, Jennifer L ; Schroth, Jana ; Copeland, Brett ; Schaffer, Ashleigh E ; Gordts, Philip L S M ; Esko, Jeffrey D ; Buschman, Matthew D ; Field, Seth J ; Napolitano, Gennaro ; Abdel-Salam, Ghada M ; Ozgul, R Koksal ; Sagıroglu, Mahmut Samil ; Azam, Matloob ; Ismail, Samira ; Aglan, Mona ; Selim, Laila ; Mahmoud, Iman G ; Abdel-Hadi, Sawsan ; Badawy, Amera El ; Sadek, Abdelrahim A ; Mojahedi, Faezeh ; Kayserili, Hulya ; Masri, Amira ; Bastaki, Laila ; Temtamy, Samia ; Müller, Ulrich ; Desguerre, Isabelle ; Casanova, Jean-Laurent ; Dursun, Ali ; Gunel, Murat ; Gabriel, Stacey B ; de Lonlay, Pascale ; Gleeson, Joseph G
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2015-05, Vol.47 (5), p.528-534
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A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis
Author / Creator:Karaer, Kadri ; Rosti, Rasim Ozgür ; Torun, Deniz ; Sanal, Hatice Tuba ; Bahçe, Muhterem ; Güran, Sefik
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2011-05, Vol.53 (3), p.346-351
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Angelman syndrome: clinical findings and follow-up data of 14 patients
Author / Creator:Kara, Bülent ; Karaman, Birsen ; Ozmen, Meral ; Rosti, Rasim Ozgür ; Calişkan, Mine ; Kayserili, Hülya ; Başaran, Seher
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2008-03, Vol.50 (2), p.137-142
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Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome
Author / Creator: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
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2017-06, Vol.54 (6), p.399-403
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Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
Author / Creator: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, Hülya ; 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
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2016-09, Vol.53 (9), p.608-615
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TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family
Author / Creator:Maraş-Genç, Hülya ; Uyur-Yalçın, Emek ; Rosti, Rasim Özgür ; Gleeson, Joseph G ; Kara, Bülent
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2015-05, Vol.57 (3), p.286-289
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Craniodentofacial Manifestations In Hallermann-Streiff Syndrome
Author / Creator:Bahar Tuna, E. ; Sulun, Tonguc ; Rosti, Ozgur ; El Abdallah, Fouad ; Kayserili, Hulya ; Aktoren, Oya
Publisher:England: Taylor & Francis Ltd
Journal title:Cranio, 2009-01, Vol.27 (1), p.33-38
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Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies
Author / Creator:Bielas, S. L. ; Silhavy, J. L. ; Brancati, F. ; Kisseleva, M. V. ; Al-Gazali, L. ; Sztriha, L. ; Bayoumi, R. A. ; Zaki, M. S. ; Abdel-Aleem, A. ; Rosti, O. ; Kayserili, H. ; Swistun, D. ; Scott, L. C. ; Bertini, E. ; Boltshauser, E. ; Fazzi, Elisa ; Travaglini, L. ; Field, S. J. ; Gayral, S. ; Jacoby, M. ; Schurmans, Stéphane ; Dallapiccola, B. ; Majerus, P. W. ; Valente, E. M. ; Gleeson, J. G.
Publisher:Nature Publishing Group
Journal title:Nature genetics, 2009-08, Vol.41 (9), p.1032-1036
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Kabuki make-up syndrome with unilateral renal agenesis
Author / Creator:Rosti, Rasim Ozgür ; Kayserili, Hülya
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2009-05, Vol.51 (3), p.298-300
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TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting wit...
Author / Creator:Hülya Maraş-Genç ; Emek Uyur-Yalçın ; Rasim Özgür Rosti ; Joseph G Gleeson ; Bülent Kara
Publisher:Hacettepe University Institute of Child Health
Journal title:Turkish journal of pediatrics, 2015-06, Vol.57 (3)
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Kabuki make-up syndrome with unilateral renal agenesis Kabuki make-up syndrome with unilateral renal agenesis
Author / Creator:Rasim Ozgür Rosti ; Hülya Kayserili
Publisher:Hacettepe University Institute of Child Health
Journal title:Turkish journal of pediatrics, 2009-06, Vol.51 (3)
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Fanconi Anemia Pathway Deficiency Drives Copy Number Variation in Squamous Cell Carcinomas
Author / Creator:Webster, Andrew Lh ; 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 ; Jung, Moonjung ; Sunandini Sridhar ; Fedrigo, Olivier ; Tian, Huasong ; Rosiene, Joel ; Heineman, Thomas ; Kennedy, Jennifer A ; Bean, Lorenzo ; Rosti, Ozgur ; Tryon, Rebecca ; Gonzalez, Ashlyn-Maree ; Rosenberg, Allana ; Ji-Dung Luo ; Carrol, Thomas ; Velleuer, Eunike ; Rastatter, Jeff C ; Wells, Susanne I ; Surralles, Jordi ; Bagby, Grover ; Macmillan, Margaret L ; Wagner, John E ; Cancio, Maria ; Boulad, Farid ; Scognamiglio, Theresa ; Vaughan, Roger ; Koren, Amnon ; Imielinski, Marcin ; Chandrasekharappa, Settara ; Auerbach, Arleen D ; Singh, Bhuvanesh ; Kutler, David I ; Campbell, Peter J ; Smogorzewska, Agata
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2021-08
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Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

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Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

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Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

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IMPACT OF CMA ON DIAGNOSIS AND CLINICAL MANAGEMENT OF NEONATES: A RETROSPECTIVE SINGLE CENTER STUDY OF A 10-YEAR COHORT

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CytogeneticsTissue Fixation Significantly Impacts MLH1 Promoter Methylation Analysis: A Quality Improvement Study

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Ataxia with vitamin E deficiency associated with deafness

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A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly

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Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

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A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis

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Angelman syndrome: clinical findings and follow-up data of 14 patients

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Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

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Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

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TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family

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Craniodentofacial Manifestations In Hallermann-Streiff Syndrome

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Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies

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Kabuki make-up syndrome with unilateral renal agenesis

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TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting wit...

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Kabuki make-up syndrome with unilateral renal agenesis Kabuki make-up syndrome with unilateral renal agenesis

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Fanconi Anemia Pathway Deficiency Drives Copy Number Variation in Squamous Cell Carcinomas

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