Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease von Karaca, Ender, Harel, Tamar, Pehlivan, Davut, Jhangiani, Shalini N., Gambin, Tomasz, Coban Akdemir, Zeynep, Gonzaga-Jauregui, Claudia, Erdin, Serkan, Bayram, Yavuz, Campbell, Ian M., Hunter, Jill V., Atik, Mehmed M., Van Esch, Hilde, Yuan, Bo, Wiszniewski, Wojciech, Isikay, Sedat, Yesil, Gozde, Yuregir, Ozge O., Tug Bozdogan, Sevcan, Aslan, Huseyin, Aydin, Hatip, Tos, Tulay, Aksoy, Ayse, De Vivo, Darryl C., Jain, Preti, Geckinli, B. Bilge, Sezer, Ozlem, Gul, Davut, Durmaz, Burak, Cogulu, Ozgur, Ozkinay, Ferda, Topcu, Vehap, Candan, Sukru, Cebi, Alper Han, Ikbal, Mevlit, Yilmaz Gulec, Elif, Gezdirici, Alper, Koparir, Erkan, Ekici, Fatma, Coskun, Salih, Cicek, Salih, Karaer, Kadri, Koparir, Asuman, Duz, Mehmet Bugrahan, Kirat, Emre, Fenercioglu, Elif, Ulucan, Hakan, Seven, Mehmet, Guran, Tulay, Elcioglu, Nursel, Yildirim, Mahmut Selman, Aktas, Dilek, Alikaşifoğlu, Mehmet, Ture, Mehmet, Yakut, Tahsin, Overton, John D., Yuksel, Adnan, Ozen, Mustafa, Muzny, Donna M., Adams, David R., Boerwinkle, Eric, Chung, Wendy K., Gibbs, Richard A., Lupski, James R.

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Phenotypic expansion illuminates multilocus pathogenic variation von Karaca, Ender, Posey, Jennifer E., Coban Akdemir, Zeynep, Pehlivan, Davut, Harel, Tamar, Jhangiani, Shalini N., Bayram, Yavuz, Song, Xiaofei, Bahrambeigi, Vahid, Yuregir, Ozge Ozalp, Bozdogan, Sevcan, Yesil, Gozde, Isikay, Sedat, Muzny, Donna, Gibbs, Richard A., Lupski, James R.

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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population von Mitani, Tadahiro, Isikay, Sedat, Gezdirici, Alper, Gulec, Elif Yilmaz, Punetha, Jaya, Fatih, Jawid M., Herman, Isabella, Akay, Gulsen, Du, Haowei, Calame, Daniel G., Ayaz, Akif, Tos, Tulay, Yesil, Gozde, Aydin, Hatip, Geckinli, Bilgen, Elcioglu, Nursel, Candan, Sukru, Sezer, Ozlem, Erdem, Haktan Bagis, Gul, Davut, Demiral, Emine, Elmas, Muhsin, Yesilbas, Osman, Kilic, Betul, Gungor, Serdal, Ceylan, Ahmet C., Bozdogan, Sevcan, Ozalp, Ozge, Cicek, Salih, Aslan, Huseyin, Yalcintepe, Sinem, Topcu, Vehap, Bayram, Yavuz, Grochowski, Christopher M., Jolly, Angad, Dawood, Moez, Duan, Ruizhi, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Marafi, Dana, Akdemir, Zeynep Coban, Karaca, Ender, Carvalho, Claudia M.B., Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Pehlivan, Davut

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Hereditary Spastic Paraplegia Type 26 with a Novel Mutation in B4GALNT1 Gene and Literature Review of the Clinical Features von Incecık, Faruk, Herguner, Ozlem M, Bozdogan, Sevcan Tug

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Dysarthria, ataxia, and dystonia associated with COX20 (FAM36A) gene mutation: A case report of a Turkish child von Ozcanyuz, Duygu, Incecik, Faruk, Herguner, Ozlem, Mungan, Neslihan, Bozdogan, Sevcan

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Hereditary spastic paraplegia type 35 with a novel mutation in fatty acid 2-hydroxylase gene and literature review of the clinical features von Incecik, Faruk, Besen, Seyda, Bozdogan, Sevcan

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A Rare Double Aneuploidy Case (Down–Klinefelter) von Bozdogan, Sevcan Tug, Bisgin, Atil

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Spectrum of FAR1 (Fatty Acyl‐CoA Reductase 1) Variants and Related Neurological Conditions von Westenberger, Ana, Ruiz‐Herrera, Adriana, Bozdoğan, Sevcan, Bisgin, Atil, Almuqbil, Mohammed, Alhashem, Amal, Alanzi, Talal, Romito, Antonio, Rolfs, Arndt, Dias, Patricia, Gouveia Silva, Raquel, Bertoli‐Avella, Aida M., Bauer, Peter, Beetz, Christian

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Pediatric Cardiomyopathies from the Landscape of Inherited Metabolic Disorders in Southeastern Turkey von Demir, Fadli, Topal, Ezgi, Bulut, Fatma Derya, Erdem, Sevcan, Kor, Deniz, Atmış, Anıl, Tug Bozdogan, Sevcan, Bisgin, Atıl, Onenli Mungan, Neslihan, Ozbarlas, Nazan

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Homozygous Mutation in CWF19L1 with Recessive Ataxia Syndrome in a Turkish Child von Incecik, Faruk, Ozcanyuz, Duygu G, Bozdogan, Sevcan T, Herguner, Ozlem M

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Identification of a novel mutation in GRIN2A gene with global developmental delay and refractory epilepsy von Sarigecili, Esra, Direk, Meltem, Komur, Mustafa, Bozdogan, Sevcan, Okuyaz, Cetin

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BRCA mutation characteristics in a series of index cases of breast cancer selected independent of family history von Bisgin, Atil, Boga, Ibrahim, Yalav, Orcun, Sonmezler, Ozge, Tug Bozdogan, Sevcan

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Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome von Karaca, Ender, Yuregir, Ozge O., Bozdogan, Sevcan T., Aslan, Huseyin, Pehlivan, Davut, Jhangiani, Shalini N., Akdemir, Zeynep C., Gambin, Tomasz, Bayram, Yavuz, Atik, Mehmed M., Erdin, Serkan, Muzny, Donna, Gibbs, Richard A., Lupski, James R.

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Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia von Kiraz, Aslıhan, Sezer, Ozlem, Alemdar, Adem, Canbek, Sezin, Duman, Nilgun, Bisgin, Atıl, Cora, Tulin, Ruhi, Hatice Ilgın, Ergoren, Mahmut Cerkez, Geçkinli, Bilgen Bilge, Sag, Sebnem Ozemri, Gözden, Hilmi Erdem, Oz, Ozlem, Altıntaş, Zuhal Mert, Yalcıntepe, Sinem, Keskin, Adem, Tak, Ayşegül Yabacı, Paskal, Şeyma Aktaş, Yürekli, Uğur Fahri, Demirtas, Mercan, Evren, Emine Unal, Hanta, Abdullah, Başdemirci, Müşerref, Suer, Kaya, Balta, Burhan, Kocak, Nadir, Karabulut, Halil Gürhan, Cobanogulları, Havva, Ateş, Esra Arslan, Bozdoğan, Sevcan Tuğ, Eker, Damla, Ekinci, Sadiye, Nergiz, Süleyman, Tuncalı, Timur, Yagbasan, Serap, Alavanda, Ceren, Kutlay, Nuket Yurur, Evren, Hakan, Erdoğan, Murat, Altıner, Sule, Sanlidag, Tamer, Gonen, Gizem Akıncı, Vicdan, Arzu, Eras, Nazan, Eker, Hatice Koçak, Balasar, Ozgür, Tuncel, Gulten, Dundar, Munis, Gurkan, Hakan, Temel, Sehime Gulsun

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Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles von Tug Bozdogan, Sevcan, Buyukkurt, Selim, Ozer, Sinem, Bisgin, Atil

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Familial hypertrophic cardiomyopathy: A case with a new mutation in the MYBPC3 gene von Hallıoğlu Kılınç, Olgu, Giray, Dilek, Bişgin, Atıl, Tuğ Bozdoğan, Sevcan, Karpuz, Derya

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Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin von Bayram, Yavuz, Karaca, Ender, Coban Akdemir, Zeynep, Yilmaz, Elif Ozdamar, Tayfun, Gulsen Akay, Aydin, Hatip, Torun, Deniz, Bozdogan, Sevcan Tug, Gezdirici, Alper, Isikay, Sedat, Atik, Mehmed M, Gambin, Tomasz, Harel, Tamar, El-Hattab, Ayman W, Charng, Wu-Lin, Pehlivan, Davut, Jhangiani, Shalini N, Muzny, Donna M, Karaman, Ali, Celik, Tamer, Yuregir, Ozge Ozalp, Yildirim, Timur, Bayhan, Ilhan A, Boerwinkle, Eric, Gibbs, Richard A, Elcioglu, Nursel, Tuysuz, Beyhan, Lupski, James R

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IL-1RN VNTR, IL-2(-330), and IL-4 VNTR gene polymorphisms in patients with chronic rhinosinusitis with sinonasal polyposis von KURAN, Gökhan, ASLAN, Hüseyin, HAYTOĞLU, Süheyl, ÖZALP YÜREĞİR, Özge, TUĞ BOZDOĞAN, Sevcan

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Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS‐CoV‐2 from 946 whole‐exome sequencing data in the Turkish population von Duman, Nilgun, Tuncel, Gulten, Bisgin, Atil, Bozdogan, Sevcan Tug, Sag, Sebnem Ozemri, Gul, Seref, Kiraz, Aslihan, Balta, Burhan, Erdogan, Murat, Uyanik, Bulent, Canbek, Sezin, Ata, Pinar, Geckinli, Bilgen Bilge, Arslan Ates, Esra, Alavanda, Ceren, Yesim Ozdemir, Sevda, Sezer, Ozlem, Ozgon, Gulay Oner, Gurkan, Hakan, Guler, Kubra, Boga, Ibrahim, Kaya, Niyazi, Alemdar, Adem, Sayan, Murat, Dundar, Munis, Ergoren, Mahmut Cerkez, Temel, Sehime Gulsun

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Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey von Bozdogan, Sevcan Tug, Mujde, Cem, Boga, Ibrahim, Sonmezler, Ozge, Hanta, Abdullah, Rencuzogullari, Cagla, Ozcan, Dilek, Altintas, Derya Ufuk, Bisgin, Atil

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