Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype Correlation von Özen, Samim, Gökşen, Damla, Evin, Ferda, Işık, Esra, Onay, Hüseyin, Akgün, Bilçağ, Ata, Aysun, Atik, Tahir, Düzcan, Füsun, Özkınay, Ferda, Darcan, Şükran, Çoğulu, Özgür

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A Novel Molecular Indicator for Inhibitor Development in Haemophilia A von Isik, Esra, Mehdiyeva, Humay, Akgun, Bilcag, Kose, Timur, Kavakli, Kaan, Ozkinay, Ferda, Atik, Tahir

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Effect of CTLA-4 and TNF-α Gene Polymorphisms on Inhibitor Development in a Turkish Cohort of Severe Hemophilia A Cases with Intron 22 Inversion Mutation: An Analytical Study von MEHDİYEVA, Humay, IŞIK, Esra, KÖSE, Melis, AKGÜN, Bilçağ, DURMUŞ, Başak, ALPAY, Araz, KAVAKLI, Kaan, EVİM, Melike Sezgin, ÖZBEK, Namık Yaşar, ONAY, Hüseyin, OZKINAY, Ferda, ATIK, Tahir

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Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations von Atik, Tahir, Işık, Esra, Onay, Hüseyin, Akgün, Bilçağ, Shamsali, Moharram, Kavaklı, Kaan, Evim, Melike, Tüysüz, Gülen, Özbek, Namık Yaşar, Şahin, Fahri, Salcıoğlu, Zafer, Albayrak, Canan, Oymak, Yeşim, Ünal, Ekrem, Belen, Fatma Burcu, Yılmaz Keskin, Ebru, Balkan, Can, Baytan, Birol, Küpesiz, Alphan, Culha, Vildan, Tahtakesen Güçer, Tuba Nur, Güneş, Adalet Meral, Özkınay, Ferda

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Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings von Isik, Esra, Akgun, Bilcag, Atik, Tahir, Ozkinay, Ferda, Qogulu, Ozgur

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HOXC4 Gene is Possibly Responsible for Lin-Gettig Syndrome von Atik, Tahir, Işık, Esra, Özen, Samim, Akgün, Bilçağ, Onay, Hüseyin, Çoğulu, Özgür, Ergüner, Bekir, Savaş, Sümeyra, Özkınay, Ferda

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POU1F1 and PROP1 Gene Mutations in 4 Cases of Combined Pituitary Hormone Deficiency von Akgün, Bilçağ, Karademir, Zehra, Işık, Esra, Darcan, Şükran, Aykut, Ayça, Durmaz, Asude, Özen, Samim, Büyükinan, Muammer, Onay, Hüseyin, Özkınay, Ferda

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Turkey Experience in Molecular Analysis of Hemophilia B: F9 Gene Mutation Spectrum and Genotype-Phenotype Correlation von IŞIK, Esra, AKGÜN, Bilçağ, KAVAKLI, Kaan, SEZGİN EVİM, Melike, ALBAYRAK, Canan, TÜYSÜZ KİNTRUP, Gülen, ŞAHİN, Fahri, ANTMEN, Bülent, YILMAZ KESKİN, Ebru, GÜLER, Salih, ALBAYRAK, Davut, KÜPESİZ, Osman Alphan, ONAY, Hüseyin, ÖZKINAY, Ferda, ATİK, Tahir

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The Mutation Spectrum of DHCR7 Gene and Two Novel Mutations von Işık, Esra, Onay, Hüseyin, Akgün, Bilçağ, Atik, Tahir, Aykut, Ayça, Durmaz, Asude, Munis Dündar, Yaşar, Bekir Kurtbay, Mıhçı, Ercan, Özkınay, Ferda

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Evaluation of Differences of Fast and High Accuracy Base Calling Models of Guppy on Variant Calling Using Low Coverage WGS Data von KARAKURT, Hamza Umut, PEKCAN, Hasan Ali, KAHRAMAN, Ayşe, JİHAD, Muntadher, AKGÜN, Bilçağ, OKSUZ, Cuneyt, ONAY, Bahadır

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Hemofili B Moleküler Analizinde Türkiye Deneyimi: F9 Gen Mutasyon Spektrumu ve Genotip-Fenotip Iliskisi von Işik, Esra, Akgü&n, Bilçağ, Kavakli, Kaan, Evım, Melike Sezgın, Albayrak, Canan, Kıntrup, Gülen Tüysüz, Şahın, Fahri, Antmen, Bülent, Keskın, Ebru Yilmaz, Güler, Salih, Albayrak, Davut, Küpesız, Osman Alphan, Onay, Hüseyin, Özkinay, Ferda, Atık, Tahir

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Clinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrations von Araci, Mehmet Bilal, Akgun, Bilcag, Atik, Tahir, Isik, Esra, Ak, Gunes, Barutcuoglu, Burcu, Ozkinay, Ferda

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Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations von Isik, Esra, Onay, Huseyin, Atik, Tahir, Akgun, Bilcag, Cogulu, Ozgur, Ozkinay, Ferda

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A genome‐wide association study in Puerto Ricans suggests new risk loci for Alzheimer disease von Rajabli, Farid, Feliciano‐Astacio, Briseida E., Hamilton‐Nelson, Kara L., Rivero, Joe, Akgun, Bilcag, Adams, Larry D., Mena, Pedro R., Tejada, Sergio J., Celis, Katrina, Sanchez, Jose Javier, Feliciano, Nereida I, Whitehead, Patrice, Prough, Michael B., Gardner, Olivia K., Acosta, Heriberto, Chinea, Angel, McInerney, Katalina, Vance, Jeffery M., Cuccaro, Michael L., Beecham, Gary W., Pericak‐Vance, Margaret A.

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African‐ancestry based polygenic risk scores improve Alzheimer disease risk prediction in individuals of African Ancestry von Akgun, Bilcag, Hamilton‐Nelson, Kara L., Kushch, Nicholas A., Adams, Larry D., Starks, Takiyah D., Martinez, Izri, Laux, Renee A., Whitehead, Patrice L., Kunkle, Brian W., Cuccaro, Michael L., Vance, Jeffery M., Reitz, Christiane, Byrd, Goldie S., Haines, Jonathan L., Beecham, Gary W., Pericak‐Vance, Margaret A., Rajabli, Farid

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A new risk locus on chromosome 1 is suggested by genome‐wide association study in Peruvians for Alzheimer disease von Akgun, Bilcag, Cornejo‐Olivas, Mario, Custodio, Nilton, Rajabli, Farid, Soto‐Añari, Marcio F., Montesinos, Rosa, Yang, Zikun, Huaman, Basilio C., Reyes‐Dumeyer, Dolly, Cedeno, Jeffrey A, Rivero, Joe, Mena, Pedro R., Adams, Larry D., Whitehead, Patrice, Hamilton‐Nelson, Kara L., Rios‐Pinto, Julia, Medina‐Colque, Angel, Dalgard, Clifton L., Isasi, Rosario, Cornejo‐Herrera, Ivan, Illanes‐Manrique, Maryenela, Ochoa‐Valle, Edward, Sarapura‐Castro, Elison, Mejía, Koni K., Milla‐Neyra, Karina, Castro‐Suarez, Sheila, Martin, Eden R., Griswold, Anthony J., McInerney, Katalina, Cuccaro, Michael L., Vance, Jeffery M., Beecham, Gary W., Pericak‐Vance, Margaret A., Tosto, Giuseppe

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Genome-wide association analysis and admixture mapping in a Puerto Rican cohort supports an Alzheimer disease risk locus on chromosome 12 von Akgun, Bilcag, Feliciano-Astacio, Briseida E, Hamilton-Nelson, Kara L, Scott, Kyle, Rivero, Joe, Adams, Larry D, Sanchez, Jose J, Valladares, Glenies S, Tejada, Sergio, Bussies, Parker L, Silva-Vergara, Concepcion, Rodriguez, Vanessa C, Mena, Pedro R, Celis, Katrina, Whitehead, Patrice G, Prough, Michael, Kosanovic, Christina, Van Booven, Derek J, Schmidt, Michael A, Acosta, Heriberto, Griswold, Anthony J, Dalgard, Clifton L, McInerney, Katalina F, Beecham, Gary W, Cuccaro, Michael L, Vance, Jeffery M, Pericak-Vance, Margaret A, Rajabli, Farid

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Evaluation of CNTNAP2 gene rs2107856 polymorphism in Turkish population with pseudoexfoliation syndrome von Karaca, Irmak, Yilmaz, Suzan Guven, Palamar, Melis, Onay, Huseyin, Akgun, Bilcag, Aytacoglu, Burcu, Aykut, Ayca, Ozkinay, Feristah Ferda

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Immunodeficiency in a Child with Alström Syndrome von Ozdemir, Taha Resid, Karaca, Neslihan Edeer, Marshall, Jan Davis, Kutukculer, Necil, Aksu, Guzide, Ozgul, Riza Koksal, Ozanturk, Aysegul, Isik, Esra, Akgun, Bilcag, Ozdemir, Hamiyet Hekimci, Darcan, Sukran, Ozkinay, Ferda, Cogulu, Ozgur

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POU1F1 and PROP1 Gene Mutations in 4 Cases of Combined Pituitary Hormone Deficiency von Akgun, Bilcag, Karademir, Zehra, Isik, Esra, Darcan, Sukran, Aykut, Ayca, Durmaz, Asude, Ozen, Samim, Buyukinan, Muammer, Onay, Huseyin, Ozkinay, Ferda

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