Ohcanbohtosat - Pehlivan, Davut

One Genetic Defect and Two Related Entities in Monozygotic Twins: Otosclerosis and Superior Semicircular Canal Near Dehiscence Syndrome Dahkki Ocal, F Ceyda Akin, Kavus, Haluk, Satar, Bulent, Pehli̇van, Davut

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Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22 Dahkki Carvalho, Claudia M. B., Bartnik, Magdalena, Pehlivan, Davut, Fang, Ping, Shen, Joseph, Lupski, James R.

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Metastasis: Genetics, Mechanism, and Diagnostic and Therapeutic Strategies Dahkki Gunduz, Mehmet, Gunduz, Esra, Beder, Levent, Pehlivan, Davut, Hatipoglu, Omer Faruk, Kachhap, Sushant, Grenman, Reidar

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The role of GSTM1 gene polymorphisms in lung cancer development in Turkish population Dahkki Demir, Adalet, Altin, Sedat, Pehlivan, Davut, Demir, Mulahim, Yakar, Fatih, Seyhan, Ekrem Cengiz, Dincer, Seyyit Ibrahim

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Curcumin facilitates a transitory cellular stress response in Trembler-J mice Dahkki Okamoto, Yuji, Pehlivan, Davut, Wiszniewski, Wojciech, Beck, Christine R., Snipes, G. Jackson, Lupski, James R., Khajavi, Mehrdad

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Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation Dahkki Tuysuz, Beyhan, Pehlivan, Davut, Özkök, Ahmet, Jhangiani, Shalini, Yalcinkaya, Cengiz, Zeybek, Çiğdem Aktuğlu, Muzny, Donna Marie, Lupski, James R., Gibbs, Richard, Jaeken, Jaak

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Replicative mechanisms for CNV formation are error prone Dahkki Carvalho, Claudia M. B., Pehlivan, Davut, Ramocki, Melissa B., Fang, Ping, Alleva, Benjamin, Franco, Luis M., Belmont, John W., Hastings, P. J., Lupski, James R.

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NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation Dahkki Pehlivan, Davut, Hullings, Melanie, Carvalho, Claudia M.B., Gonzaga-Jauregui, Claudia G., Loy, Elizabeth, Jackson, Laird G., Krantz, Ian D., Deardorff, Matthew A., Lupski, James R.

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Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis Dahkki Pehlivan, Davut, Akdemir, Zeynep Coban, Karaca, Ender, Bayram, Yavuz, Jhangiani, Shalini, Yildiz, Edibe, Muzny, Donna, Uluc, Kayihan, Gibbs, Richard A., Elcioglu, Nursel, Lupski, James R., Harel, Tamar

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Exome Sequencing Identifies a Homozygous C5orf42 Variant in a Turkish Kindred With Oral-Facial-Digital Syndrome Type VI Dahkki Bayram, Yavuz, Aydin, Hatip, Gambin, Tomasz, Akdemir, Zeynep Coban, Atik, Mehmed M., Karaca, Ender, Karaman, Ali, Pehlivan, Davut, Jhangiani, Shalini N., Gibbs, Richard A., Lupski, James R.

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Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia Dahkki Pehlivan, Davut, Karaca, Ender, Aydin, Hatip, Beck, Christine R, Gambin, Tomasz, Muzny, Donna M, Bilge Geckinli, B, Karaman, Ali, Jhangiani, Shalini N, Gibbs, Richard A, Lupski, James R

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A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype Dahkki Hanchard, Neil A, Carvalho, Claudia MB, Bader, Patricia, Thome, Aaron, Omo-Griffith, Lisa, del Gaudio, Daniela, Pehlivan, Davut, Fang, Ping, Schaaf, Christian P, Ramocki, Melissa B, Lupski, James R, Cheung, Sau Wai

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Rare Variants in the Notch Signaling Pathway Describe a Novel Type of Autosomal Recessive Klippel–Feil Syndrome Dahkki 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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Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy Dahkki Calame, Daniel G., Fatih, Jawid, Herman, Isabella, Akdemir, Zeynep Coban, Du, Haowei, Jhangiani, Shalini N., Gibbs, Richard A., Marafi, Dana, Pehlivan, Davut, Posey, Jennifer E., Lotze, Timothy, Mancias, Pedro, Bhattacharjee, Meenakshi Bidwai, Lupski, James R.

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Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant Dahkki Saad, Ahmed K., Marafi, Dana, Mitani, Tadahiro, Du, Haowei, Rafat, Karima, Fatih, Jawid M., Jhangiani, Shalini N., Coban-Akdemir, Zeynep, Gibbs, Richard A., Pehlivan, Davut, Hunter, Jill V., Posey, Jennifer E., Zaki, Maha S., Lupski, James R.

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Phenotypic Expansion Illuminates Multilocus Pathogenic Variation Dahkki Karaca, Ender, Posey, Jennifer E., Akdemir, Zeynep Coban, 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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A novel homozygous whole-gene deletion of SLC13A5 mediated by Alu-Alu mediated rearrangement in an Iraqi family with epileptic encephalopathy Dahkki Duan, Ruizhi, Saadi, Nebal Waill, Grochowski, Christopher M., Bhadila, Ghalia, Faridoun, Afnan, Mitani, Tadahiro, Du, Haowei, Fatih, Jawid M., Jhangiani, Shalini N., Akdemir, Zeynep C., Gibbs, Richard A., Pehlivan, Davut, Posey, Jennifer E., Marafi, Dana, Lupski, James R.

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Whole Exome Sequencing Identifies Three Novel Mutations in ANTXR1 in Families with GAPO Syndrome Dahkki Bayram, Yavuz, Pehlivan, Davut, Karaca, Ender, Gambin, Tomasz, Jhangiani, Shalini N., Erdin, Serkan, Gonzaga-Jauregui, Claudia, Wiszniewski, Wojciech, Muzny, Donna, Elcioglu, Nursel H., Yildirim, M. Selman, Bozkurt, Banu, Zamani, Ayse Gul, Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R.

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Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome Dahkki Lindstrand, Anna, Davis, Erica E., Carvalho, Claudia M.B., Pehlivan, Davut, Willer, Jason R., Tsai, I-Chun, Ramanathan, Subhadra, Zuppan, Craig, Sabo, Aniko, Muzny, Donna, Gibbs, Richard, Liu, Pengfei, Lewis, Richard A., Banin, Eyal, Lupski, James R., Clark, Robin, Katsanis, Nicholas

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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome Dahkki Lindstrand, Anna, Frangakis, Stephan, Carvalho, Claudia M.B., Richardson, Ellen B., McFadden, Kelsey A., Willer, Jason R., Pehlivan, Davut, Liu, Pengfei, Pediaditakis, Igor L., Sabo, Aniko, Lewis, Richard Alan, Banin, Eyal, Lupski, James R., Davis, Erica E., Katsanis, Nicholas

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