Two female siblings with West syndrome: Familial idiopathic West syndrome with genetic susceptibility and variable phenotypic expression

Tekijä Caglayan, Ahmet Okay, Gumus, Hakan, Kato, Mitsuhiro
Julkaistu 2010

Cytogenetic Results of Patients with Infertility in Middle Anatolia, Turkey: Do Heterochromatin Polymorphisms Affect Fertility?

Tekijä Caglayan, Ahmet Okay, Ozyazgan, Isilay, Demiryilmaz, Fatma, Dundar, Munis
Julkaistu 2010

Lack of association between the Glu298Asp polymorphism of endothelial nitric oxide synthase and slow coronary flow in the Turkish population

Tekijä Caglayan, Ahmet Okay, Kalay, Nihat, Saatci, Cetin, Yalcın, Arif, Akalın, Hilal, Dundar, Munis
Julkaistu 2009

Holt-Oram syndrome in two generations with translocation t(9;15)(p12;q11.2)

Tekijä Caglayan, Ahmet Okay, Koklu, Esad, Saatci, Cetin, Gunes, Tamer, Ozkul, Yusuf, Narin, Nazmi, Baykan, Ali, Dundar, Munis, Buyukkayhan, Derya
Julkaisussa Ann Saudi Med (2008)

Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population

Tekijä 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.
Julkaisussa Pediatrics (2016)

Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families

Tekijä Kocoglu, Cemile, Gundogdu, Asli, Kocaman, Gulsen, Kahraman-Koytak, Pinar, Uluc, Kayihan, Kiziltan, Gunes, Caglayan, Ahmet Okay, Bilguvar, Kaya, Vural, Atay, Basak, A. Nazli
Julkaisussa Neurol Genet (2018)

COQ4 mutation leads to childhood-onset ataxia improved by CoQ1O administration

Tekijä 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
Julkaisussa Cerebellum (2019)

METAP1 Mutation Is a Novel Candidate for Autosomal Recessive Intellectual Disability

Tekijä Caglayan, Ahmet Okay, Aktar, Fesih, Bilguvar, Kaya, Baranoski, Jacob F., Akgumus, Gozde Tugce, Harmanci, Akdes Serin, Erson-Omay, Emine Zeynep, Yasuno, Katsuhito, Caksen, Huseyin, Gunel, Murat
Julkaisussa J Hum Genet (2020)

ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features

Tekijä Çağlayan, Ahmet Okay, Sezer, Rabia Gonul, Kaymakçalan, Hande, Ulgen, Ege, Yavuz, Taner, Baranoski, Jacob F., Bozaykut, Abdulkadir, Harmanci, Akdes Serin, Yalcin, Yalim, Youngblood, Mark W., Yasuno, Katsuhito, Bilgüvar, Kaya, Gunel, Murat
Julkaisussa Cold Spring Harb Mol Case Stud (2017)

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP

Tekijä Çağlayan, Ahmet Okay, Tüysüz, Beyhan, Coşkun, Süleyman, Quon, Jennifer, Harmanci, Akdes Serin, Baranoski, Jacob F., Baran, Burçin, Erson-Omay, E. Zeynep, Henegariu, Octavian, Mane, Shrikant M., Bilgüvar, Kaya, Yasuno, Katsuhito, Günel, Murat
Julkaisussa J Hum Genet (2016)

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

Tekijä 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.
Julkaistu 2013

NGLY1 Mutation Causes Neuromotor Impairment, Intellectual Disability, and Neuropathy

Tekijä Caglayan, Ahmet Okay, Comu, Sinan, Baranoski, Jacob F., Parman, Yesim, Kaymakçalan, Hande, Akgumus, Gozde Tugce, Caglar, Caner, Dolen, Duygu, Omay, E. Zeynep Erson, Harmanci, Akdes Serin, Mishra, Ketu, Freeze, Hudson H., Yasuno, Katsuhito, Bilguvar, Kaya, Gunel, Murat
Julkaisussa Eur J Med Genet (2014)

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

Tekijä 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
Julkaisussa Am J Hum Genet (2016)

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

Tekijä Rad, Abolfazl, Altunoglu, Umut, Miller, Rebecca, Maroofian, Reza, James, Kiely N, Çağlayan, Ahmet Okay, Najafi, Maryam, Stanley, Valentina, Boustany, Rose-Mary, Yeşil, Gözde, Sahebzamani, Afsaneh, Ercan-Sencicek, Gülhan, Saeidi, Kolsoum, Wu, Kaman, Bauer, Peter, Bakey, Zeineb, Gleeson, Joseph G, Hauser, Natalie, Gunel, Murat, Kayserili, Hulya, Schmidts, Miriam
Julkaisussa J Med Genet (2019)

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

Tekijä 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.
Julkaisussa Am J Hum Genet (2016)

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

Tekijä 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.
Julkaisussa Am J Hum Genet (2016)

Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder

Tekijä Tarlungeanu, 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, Caglayan, Ahmet Okay, Gunel, Murat, Gleeson, Joseph G., Novarino, Gaia
Julkaisussa Cell (2016)

Recessive LAMC3 mutations cause malformations of occipital cortical development

Tekijä 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
Julkaistu 2011

Brain Malformations Associated with Knobloch Syndrome – Review of Literature, Expanding Clinical Spectrum and Identification of Novel Mutations

Tekijä Caglayan, Ahmet Okay, Baranoski, Jacob F., Aktar, Fesih, Han, Wengi, Tuysuz, Beyhan, Guzel, Aslan, Guclu, Bulent, Kaymakcalan, Hande, Aktekin, Berrin, Akgumus, Gozde Tugce, Murray, Phillip B., Omay, E. Zeynep Erson, Caglar, Caner, Bakircioglu, Mehmet, Sakalar, Yildirim Bayezit, Guzel, Ebru, Demir, Nihat, Tuncer, Oguz, Senturk, Senem, Ekici, Baris, Minja, Frank J., Šestan, Nenad, Yasuno, Katsuhito, Bilguvar, Kaya, Caksen, Huseyin, Gunel, Murat
Julkaisussa Pediatr Neurol (2014)

Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis

Tekijä 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
Julkaisussa Neuro Oncol (2015)