Recessive LAMC3 mutations cause malformations of occipital cortical development
Barak, Tanyeri, Kwan, Kenneth Y, Louvi, Angeliki, Demirbilek, Veysi, Saygı, Serap, Tüysüz, Beyhan, Choi, Murim, Boyacı, Hüseyin, Doerschner, Katja, Zhu, Ying, Kaymakçalan, Hande, Yılmaz, Saliha, Bakırcıoğlu, Mehmet, Çağlayan, Ahmet Okay, Öztürk, Ali Kemal, Yasuno, Katsuhito, Brunken, William J, Atalar, Ergin, Yalçınkaya, Cengiz, Dinçer, Alp, Bronen, Richard A, Mane, Shrikant, Özçelik, Tayfun, Lifton, Richard P, Šestan, Nenad, Bilgüvar, Kaya, Günel, Murat
Published in Nature genetics (01.06.2011)
Published in Nature genetics (01.06.2011)
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Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities
Radmanesh, Farid, Caglayan, Ahmet Okay, Silhavy, Jennifer L., Yilmaz, Cahide, Cantagrel, Vincent, Omar, Tarek, Rosti, Başak, Kaymakcalan, Hande, Gabriel, Stacey, Li, Mingfeng, Šestan, Nenad, Bilguvar, Kaya, Dobyns, William B., Zaki, Maha S., Gunel, Murat, 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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Further delineation of familial polycystic ovary syndrome (PCOS) via whole‐exome sequencing: PCOS‐related rare FBN3 and FN1 gene variants are identified
Karakaya, Cengiz, Çil, Aylin Pelin, Bilguvar, Kaya, Çakir, Tunahan, Karalok, Mete Hakan, Karabacak, Recep Onur, Caglayan, Ahmet Okay
Published in The journal of obstetrics and gynaecology research (01.05.2022)
Published in The journal of obstetrics and gynaecology research (01.05.2022)
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Journal Article
The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis
Bakircioglu, Mehmet, Carvalho, Ofélia P., Khurshid, Maryam, Cox, James J., Tuysuz, Beyhan, Barak, Tanyeri, Yilmaz, Saliha, Caglayan, Okay, Dincer, Alp, Nicholas, Adeline K., Quarrell, Oliver, Springell, Kelly, Karbani, Gulshan, Malik, Saghira, Gannon, Caroline, Sheridan, Eamonn, Crosier, Moira, Lisgo, Steve N., Lindsay, Susan, Bilguvar, Kaya, Gergely, Fanni, Gunel, Murat, Woods, C. Geoffrey
Published in American journal of human genetics (13.05.2011)
Published in American journal of human genetics (13.05.2011)
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Journal Article
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder
Tărlungeanu, Dora C., Deliu, Elena, Dotter, Christoph P., Kara, Majdi, Janiesch, Philipp Christoph, Scalise, Mariafrancesca, Galluccio, Michele, Tesulov, Mateja, Morelli, Emanuela, Sonmez, Fatma Mujgan, Bilguvar, Kaya, Ohgaki, Ryuichi, Kanai, Yoshikatsu, Johansen, Anide, Esharif, Seham, Ben-Omran, Tawfeg, Topcu, Meral, Schlessinger, Avner, Indiveri, Cesare, Duncan, Kent E., Caglayan, Ahmet Okay, Gunel, Murat, Gleeson, Joseph G., Novarino, Gaia
Published in Cell (01.12.2016)
Published in Cell (01.12.2016)
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Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature
Samur, Bahadir M, Gümüş, Gülsüm, Canpolat, Mehmet, Gümüş, Hakan, Per, Hüseyin, Cağlayan, Ahmet Okay
Published in Clinical dysmorphology (01.07.2022)
Published in Clinical dysmorphology (01.07.2022)
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Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency
GÜMÜŞ, HAKAN, GHESQUIERE, STIJN, PER, HÜSEYIN, KONDOLOT, MEDA, ICHIDA, KIMIYOSHI, POYRAZOĞLU, GAMZE, KUMANDAŞ, SEFER, ENGELEN, JOHN, DUNDAR, MUNIS, ÇAĞLAYAN, AHMET OKAY
Published in Developmental medicine and child neurology (01.09.2010)
Published in Developmental medicine and child neurology (01.09.2010)
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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
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes
Laugwitz, Lucia, Seibt, Annette, Herebian, Diran, Peralta, Susana, Kienzle, Imke, Buchert, Rebecca, Falb, Ruth, Gauck, Darja, Müller, Amelie, Grimmel, Mona, Beck-Woedel, Stefanie, Kern, Jan, Daliri, Karim, Katibeh, Pegah, Danhauser, Katharina, Leiz, Steffen, Alesi, Viola, Baertling, Fabian, Vasco, Gessica, Steinfeld, Robert, Wagner, Matias, Caglayan, Ahmet Okay, Gumus, Hakan, Burmeister, Margit, Mayatepek, Ertan, Martinelli, Diego, Tamhankar, Parag Mohan, Tamhankar, Vasundhara, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Bonnen, Penelope E, Froukh, Tawfiq, Groeschel, Samuel, Krägeloh-Mann, Ingeborg, Haack, Tobias B, Distelmaier, Felix
Published in Journal of medical genetics (01.09.2022)
Published in Journal of medical genetics (01.09.2022)
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Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population
Kornilov, Sergey A, Rakhlin, Natalia, Koposov, Roman, Lee, Maria, Yrigollen, Carolyn, Caglayan, Ahmet Okay, Magnuson, James S, Mane, Shrikant, Chang, Joseph T, Grigorenko, Elena L
Published in Pediatrics (Evanston) (01.04.2016)
Published in Pediatrics (Evanston) (01.04.2016)
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COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration
Caglayan, Ahmet Okay, Gumus, Hakan, Sandford, Erin, Kubisiak, Thomas L., Ma, Qianyi, Ozel, A. Bilge, Per, Huseyin, Li, Jun Z., Shakkottai, Vikram G., Burmeister, Margit
Published in Cerebellum (London, England) (01.06.2019)
Published in Cerebellum (London, England) (01.06.2019)
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Journal Article
Idiopathic hirsutism: local and peripheral expression of aromatase ( CYP19A ) and 5α-reductase genes ( SRD5A1 and SRD5A2 )
Caglayan, A. Okay, M.D, Dundar, Munis, M.D, Tanriverdi, Fatih, M.D, Baysal, Nuran A., M.D, Unluhizarci, Kursad, M.D, Ozkul, Yusuf, Ph.D, Borlu, Murat, M.D, Batukan, Cem, M.D, Kelestimur, Fahrettin, M.D
Published in Fertility and sterility (01.08.2011)
Published in Fertility and sterility (01.08.2011)
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Journal Article
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy
Caglayan, Ahmet Okay, Comu, Sinan, Baranoski, Jacob F, Parman, Yesim, Kaymakçalan, Hande, Akgumus, Gozde Tugce, Caglar, Caner, Dolen, Duygu, Erson-Omay, Emine Zeynep, Harmanci, Akdes Serin, Mishra-Gorur, Ketu, Freeze, Hudson H, Yasuno, Katsuhito, Bilguvar, Kaya, Gunel, Murat
Published in European journal of medical genetics (01.01.2015)
Published in European journal of medical genetics (01.01.2015)
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Journal Article
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
Lifton, Richard P, State, Matthew W, Günel, Murat, Bilgüvar, Kaya, Öztürk, Ali Kemal, Louvi, Angeliki, Kwan, Kenneth Y, Choi, Murim, Tatl, Burak, Yaln zo lu, Dilek, Tüysüz, Beyhan, Ça layan, Ahmet Okay, Gökben, Sarenur, Kaymakçalan, Hande, Barak, Tanyeri, Bak rc o lu, Mehmet, Yasuno, Katsuhito, Ho, Winson, Sanders, Stephan, Zhu, Ying, Y lmaz, Sanem, Dinçer, Alp, Johnson, Michele H, Bronen, Richard A, Koçer, Naci, Per, Hüseyin, Mane, Shrikant, Pamir, Mehmet Necmettin, Yalç nkaya, Cengiz, Kumanda, Sefer, Topçu, Meral, Özmen, Meral, Šestan, Nenad
Published in Nature (London) (09.09.2010)
Published in Nature (London) (09.09.2010)
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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, 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
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Journal Article
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, Çağlayan, Ahmet Okay, Kaymakçalan, Hande, Ekici, Barış, Bilguvar, Kaya, Gunel, Murat, Gleeson, Joseph G.
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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Journal Article
Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features
Tüysüz, Beyhan, Bilguvar, Kaya, Koçer, Naci, Yalçınkaya, Cengiz, Çağlayan, Okay, Gül, Ece, Şahin, Sezgin, Çomu, Sinan, Günel, Murat
Published in American journal of medical genetics. Part A (01.07.2014)
Published in American journal of medical genetics. Part A (01.07.2014)
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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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