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Management of rare and undiagnosed diseases: insights from researchers and healthcare professionals in Türkiye Durmus, Sinem; Yucesan, Emrah; Aktug, Sinem; Utz, Begum; Caglayan, Ahmet Okay; Gencpinar, Pinar; Gunay, Cagatay; Oktay, Yavuz; Yildirim, Ravza Nur; Yigit, Ayca; Ozbek, Ugur 分享 收藏
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Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes 人类COQ4缺乏症: 描述临床，代谢和神经影像学表型 Laugwitz, Lucia; Seibt, Annette; Herebian, Diran; Peralta, Susana; Kienzle, Imke; Buchert, Rebecca; Falb, Ruth; Gauck, Darja; Muller, 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; Krageloh-Mann, Ingeborg; Haack, Tobias B.; Distelmaier, Felix 分享 收藏
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants Herkert, Johanna C.; Verhagen, Judith M. A.; Yotti, Raquel; Haghighi, Alireza; Phelan, Dean G.; James, Paul A.; Brown, Natasha J.; Stutterd, Chloe; Macciocca, Ivan; Leong, Kai'En; Bulthuis, Marian L. C.; van Bever, Yolande; van Slegtenhorst, Marjon A.; Boven, Ludolf G.; Roberts, Amy E.; Agarwal, Radhika; Seidman, Jonathan; Lakdawala, Neal K.; Fernandez-Aviles, Francisco; Burke, Michael A.; Pierpont, Mary Ella; Braunlin, Elizabeth; Caglayan, Ahmet Okay; Barge-Schaapveld, Daniela Q. C. M.; Birnie, Erwin; Van Osch-Gevers, Lennie; van Langen, Irene M.; Jongbloed, Jan D. H.; Lockhart, Paul J.; Amor, David J.; Seidman, Christine E.; van de Laar, Ingrid M. B. H. 分享 收藏
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome) Rad, Abolfazl; Altunoglu, Umut; Miller, Rebecca; Maroofian, Reza; James, Kiely N.; Caglayan, Ahmet Okay; Najafi, Maryam; Stanley, Valentina; Boustany, Rose-Mary; Yesil, Gozde; Sahebzamani, Afsaneh; Ercan-Sencicek, Gulhan; Saeidi, Kolsoum; Wu, Kaman; Bauer, Peter; Bakey, Zeineb; Gleeson, Joseph G.; Hauser, Natalie; Gunel, Murat; Kayserili, Hulya; Schmidts, Miriam 分享 收藏
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome Guemez-Gamboa, Alicia; Caglayan, 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. 分享 收藏
Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families Kocoglu, Cemile; Gundogdu, Asli; Kocaman, Gulsen; Kahraman-Koytak, Pinar; Uluc, Kayihan; Kiziltan, Gunes; Caglayan, Ahmet Okay; Bilguv, Kaya; Vural, Atay; Basak, A. Nazli 分享 收藏
Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly Sgourdou, Paraskevi; Mishra-Gorur, Ketu; Saotome, Ichiko; Henagariu, Octavian; Tuysuz, Beyhan; Campos, Cynthia; Ishigame, Keiko; Giannikou, Krinio; Quon, Jennifer L.; Sestan, Nenad; Caglayan, Ahmet O.; Gunel, Murat; Louvi, Angeliki 分享 收藏
Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing 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; Caglayan, 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; Gabrie, Stacey B.; Gunel, Murat; Valente, Enza Maria; Nassogne, Marie-Cecile; Bennett, Eric J.; Yeo, Gene W.; Baas, Frank; Lykke-Andersen, Jens; Gleeson, Joseph G. 分享 收藏
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder 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 E.; Caglayan, Ahmet Okay; Gunel, Murat; Gleeson, Joseph G.; Novarino, Gaia 分享 收藏
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; Caglayan, Ahmet Okay; Vajsar, Jiri; Bilguvar, Kaya; Ogur, Gonul; Abou Jamra, Rami; Gunel, Murat; Gleeson, Joseph G. 分享 收藏
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; Caglayan, Ahmet Okay; Azam, Matloob; Sultan, Tipu; Froukh, Tawfiq; Reis, Andre; Popp, Bernt; Ahmed, Iltaf; John, Peter; Ayub, Muhammad; Ben-Omran, Tawfeg; Vincent, John B.; Gleeson, Joseph G.; Abou Jamra, Rami 分享 收藏
Constitutive mismatch repair defect syndrome: New insights from whole exome sequencing data and functional studies Caglayan, Ahmet Okay; Omay, Zeynep E. Erson; Koksal, Yavuz; Coskun, Suleyman; Unal, Ekrem; Per, Huseyin; Bilguvar, Kaya; Yasuno, Katsuhito; Ostergaard, John Rosendahl; Gunel, Murat 分享 收藏
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; Caglayan, Ahmet Okay; Kaymakcalan, Hande; Ekici, Baris; Bilguvar, Kaya; Gunel, Murat; Gleeson, Joseph G. 分享 收藏
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. 分享 收藏
Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis Erson-Omay, E. Zeynep; Caglayan, Ahmet Okay; Schultz, Nikolaus; Weinhold, Nils; Omay, S. Bulent; Ozduman, Koray; Koksal, Yavuz; Li, Jie; Harmanci, Akdes Serin; Clark, Victoria; Carrion-Grant, Geneive; Baranoski, Jacob; Caglar, Caner; Barak, Tanyeri; Coskun, Suleyman; Baran, Burcin; Kose, Dogan; Sun, Jia; Bakircioglu, Mehmet; Gunel, Jennifer Moliterno; Pamir, M. Necmettin; Mishra-Gorur, Ketu; Bilguvar, Kaya; Yasuno, Katsuhito; Vortmeyer, Alexander; Huttner, Anita J.; Sander, Chris; Gunel, Murat 分享 收藏
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