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

Volltext

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.

Volltext

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.

Volltext

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

Volltext

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

Volltext

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.

Volltext

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

Volltext

Peripheral Expression of ADORA2A Is Increased and Is Correlated with Autism Spectrum Disorder Severity in a Sample of Turkish Children von Akköprü, Hilal, Alnak, Alper, Karadoğan, Zeynep Nur, Çağlayan, Ahmet Okay, Özçetin, Mustafa, Coşkun, Murat

Volltext

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations von 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

Volltext

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors von Mishra-Gorur, Ketu, Çağlayan, Ahmet Okay, Schaffer, Ashleigh E, Chabu, Chiswili, Henegariu, Octavian, Vonhoff, Fernando, Akgümüş, Gözde Tuğce, Nishimura, Sayoko, Han, Wenqi, Tu, Shu, Baran, Burçin, Gümüş, Hakan, Dilber, Cengiz, Zaki, Maha S, Hossni, Heba A A, Rivière, Jean-Baptiste, Kayserili, Hülya, Spencer, Emily G, Rosti, Rasim Ö, Schroth, Jana, Per, Hüseyin, Çağlar, Caner, Çağlar, Çağri, Dölen, Duygu, Baranoski, Jacob F, Kumandaş, Sefer, Minja, Frank J, Erson-Omay, E Zeynep, Mane, Shrikant M, Lifton, Richard P, Xu, Tian, Keshishian, Haig, Dobyns, William B, Chi, Neil C, Šestan, Nenad, Louvi, Angeliki, Bilgüvar, Kaya, Yasuno, Katsuhito, Gleeson, Joseph G, Günel, Murat

Volltext

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

Volltext

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

Volltext

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

Volltext

Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel CRPPA mutation in different clinical manifestations von Bayram, Nurettin, Bayram, Ayşe Kaçar, Per, Hüseyin, Gümüş, Hakan, Ozsaygili, Cemal, Doğan, Mehmet Said, Çağlayan, Ahmet Okay

Volltext

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.

Volltext

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

Volltext

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

Volltext

Nasopharyngeal carcinoma in a child with Kartagener`s syndrome von Kara, Buket, Seher, Nusret, Eren-Karanis, Meryem İlkay, Koplay, Mustafa, Artaç, Hasibe, Koç, Mehmet, Çağlayan, Ahmet Okay, Köksal, Yavuz

Volltext

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

Volltext

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

Volltext