Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations von Bilgüvar, Kaya, Öztürk, Ali Kemal, Louvi, Angeliki, Kwan, Kenneth Y., Choi, Murim, Tatlı, Burak, Yalnızoğlu, Dilek, Tüysüz, Beyhan, Çağlayan, Ahmet Okay, Gökben, Sarenur, Kaymakçalan, Hande, Barak, Tanyeri, Bakırcıoğlu, Mehmet, Yasuno, Katsuhito, Ho, Winson, Sanders, Stephan, Zhu, Ying, Yılmaz, Sanem, Dinçer, Alp, Johnson, Michele H., Bronen, Richard A., Koçer, Naci, Per, Hüseyin, Mane, Shrikant, Pamir, Mehmet Necmettin, Yalçınkaya, Cengiz, Kumandaş, Sefer, Topçu, Meral, Özmen, Meral, Šestan, Nenad, Lifton, Richard P., State, Matthew W., Günel, Murat

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Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features von 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

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Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly von 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.

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Recessive LAMC3 mutations cause malformations of occipital cortical development von 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

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Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly von 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.

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Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder von 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

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Unexpected finding in kidney biopsy of a child with nephrotic proteinuria: Questions von Bayram, Meral Torun, Yildiz, Gizem, Cağlayan, Ahmet Okay, Ulgenalp, Ayfer, Unlu, Sadiye Mehtat, Soylu, Alper, Kavukcu, Salih

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Unexpected finding in kidney biopsy of a child with nephrotic proteinuria: Answers von Bayram, Meral Torun, Yildiz, Gizem, Cağlayan, Ahmet Okay, Ulgenalp, Ayfer, Unlu, Sadiye Mehtat, Soylu, Alper, Kavukcu, Salih

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Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis von Erson-Omay, E Zeynep, Çağlayan, Ahmet Okay, Schultz, Nikolaus, Weinhold, Nils, Omay, S Bülent, Özduman, Koray, Köksal, Yavuz, Li, Jie, Serin Harmancı, Akdes, Clark, Victoria, Carrión-Grant, Geneive, Baranoski, Jacob, Çağlar, Caner, Barak, Tanyeri, Coşkun, Süleyman, Baran, Burçin, Köse, Doğan, Sun, Jia, Bakırcıoğlu, Mehmet, Moliterno Günel, Jennifer, Pamir, M Necmettin, Mishra-Gorur, Ketu, Bilguvar, Kaya, Yasuno, Katsuhito, Vortmeyer, Alexander, Huttner, Anita J, Sander, Chris, Günel, Murat

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Cerebral developmental venous anomalies in children with mismatch repair deficiency von Kara, Buket, Paksoy, Yahya, Çağlayan, Ahmet Okay, Seher, Nusret, Akbaş, Hilal, Köksal, Yavuz

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An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant von Yüksel Ülker, Aylin, Uludağ Alkaya, Dilek, Çağlayan, Ahmet Okay, Usluer, Esra, Aykut, Ayça, Aslanger, Ayça, Vural, Mehmet, Tüysüz, Beyhan

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Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities von 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.

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CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration von 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.

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Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome von Guemez‐Gamboa, Alicia, Çağlayan, 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.

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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 von Karakaya, Cengiz, Çil, Aylin Pelin, Bilguvar, Kaya, Çakir, Tunahan, Karalok, Mete Hakan, Karabacak, Recep Onur, Caglayan, Ahmet Okay

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Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations von Öztürk, Selcan, Güleç, Ayten, Erdoğan, Murat, Demir, Mikail, Canpolat, Mehmet, Gümüş, Hakan, Çağlayan, Ahmet Okay, Dündar, Munis, Per, Hüseyin

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Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center von Kocabey, Mehmet, Özkalaycı, Hande, Çankaya, Tufan, Yılmaz Uzman, Ceren, Çağlayan, Ahmet Okay, Ülgenalp, Ayfer, Erçal, Murat Derya

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Familial clustering of nasopharyngeal carcinoma in the family of an adolescent with nasopharyngeal carcinoma von Kara, Buket, Ertan, Kübra, Düzova, Mürsel, Çağlayan, Ahmet Okay, Köksal, Yavuz

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Peripheral Expression of MACROD2 Gene Is Reduced Among a Sample of Turkish Children with Autism Spectrum Disorder von Alnak, Alper, Kuşcu Özücer, İpek, Okay Çağlayan, Ahmet, Coşkun, Murat

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Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency von GÜMÜŞ, HAKAN, GHESQUIERE, STIJN, PER, HÜSEYIN, KONDOLOT, MEDA, ICHIDA, KIMIYOSHI, POYRAZOĞLU, GAMZE, KUMANDAŞ, SEFER, ENGELEN, JOHN, DUNDAR, MUNIS, ÇAĞLAYAN, AHMET OKAY

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