Zoekresultaten - Zeynep Coban‐Akdemir

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  1. 1
    Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets

    Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets door Tugce Bozkurt‐Yozgatli, Ming Yin Lun, Jesse D. Bengtsson, Uğur Sezerman, Iván K. Chinn, Zeynep Coban‐Akdemir, Claudia M.B. Carvalho

    Gepubliceerd in 2025
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  2. 2
    Predicting human genes susceptible to genomic instability associated with <i>Alu</i>/<i>Alu</i>-mediated rearrangements

    Predicting human genes susceptible to genomic instability associated with <i>Alu</i>/<i>Alu</i>-mediated rearrangements door Xiaofei Song, Christine R. Beck, Renqian Du, Ian M. Campbell, Zeynep Coban‐Akdemir, Shen Gu, Amy M. Breman, Paweł Stankiewicz, Grzegorz Ira, Chad A. Shaw, James R. Lupski

    Gepubliceerd in 2018
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  3. 3
    TRIM24 suppresses development of spontaneous hepatic lipid accumulation and hepatocellular carcinoma in mice

    TRIM24 suppresses development of spontaneous hepatic lipid accumulation and hepatocellular carcinoma in mice door Shiming Jiang, Lindsey Cauthen Minter, Sabrina A. Stratton, Peirong Yang, Hussein A. Abbas, Zeynep Coban‐Akdemir, Vinod Pant, Sean M. Post, Mihai Gagea, Richard Lee, Guillermina Lozano, Michelle Barton

    Gepubliceerd in 2014
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  4. 4
    Systematic analysis of nonsense variants uncovers peptide release rate as a novel modifier of nonsense-mediated mRNA decay

    Systematic analysis of nonsense variants uncovers peptide release rate as a novel modifier of nonsense-mediated mRNA decay door Divya Kolakada, Rui Fu, Nikita Biziaev, Alexey Shuvalov, Mlana Lore, Amy E. Campbell, Michael A. Cortázar, Marcin Piotr Sajek, Jay R. Hesselberth, Neelanjan Mukherjee, Elena Alkalaeva, Zeynep Coban‐Akdemir, Sujatha Jagannathan

    Gepubliceerd in 2025
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  5. 5
    Exome variant discrepancies due to reference-genome differences

    Exome variant discrepancies due to reference-genome differences door Li He, Moez Dawood, Michael M. Khayat, Jesse Farek, Shalini N. Jhangiani, Ziad Khan, Tadahiro Mitani, Zeynep Coban‐Akdemir, James R. Lupski, Eric Venner, Jennifer E. Posey, Aniko Sabo, Richard A. Gibbs

    Gepubliceerd in 2021
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  6. 6
    Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia

    Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia door Ranjith Ramasamy, Emre Bakırcıoğlu, Cenk Cengiz, Ender Karaca, Jason M. Scovell, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, Matthew N. Bainbridge, Yao Yu, Chad Huff, Richard A. Gibbs, James R. Lupski, Dolores J. Lamb

    Gepubliceerd in 2015
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  7. 7
    Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome

    Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome door Ender Karaca, Özge Özalp Yüreğir, Sevcan Tuğ Bozdoğan, Hüseyin Aslan, Davut Pehli̇van, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, Tomasz Gambin, Yavuz Bayram, Mehmed M. Atik, Serkan Erdin, Donna M. Muzny, Richard A. Gibbs, James R. Lupski

    Gepubliceerd in 2015
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  8. 8
    Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome

    Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome door Chaofan Zhang, Juliana F. Mazzeu, Jesper Eisfeldt, Christopher M. Grochowski, Janson J. White, Zeynep Coban‐Akdemir, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Anna Lindstrand, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho

    Gepubliceerd in 2020
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  9. 9
    Phenotypic expansion illuminates multilocus pathogenic variation

    Phenotypic expansion illuminates multilocus pathogenic variation door Ender Karaca, Jennifer E. Posey, Zeynep Coban‐Akdemir, Davut Pehli̇van, Tamar Harel, Shalini N. Jhangiani, Yavuz Bayram, Xiaofei Song, Vahid Bahrambeigi, Özge Özalp Yüreğir, Sevcan Tuğ Bozdoğan, Gözde Yeşil, Sedat Işıkay, Donna M. Muzny, Richard A. Gibbs, James R. Lupski

    Gepubliceerd in 2018
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  10. 10
    Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency

    Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency door Anlu Chen, Dov Tiosano, Tülay Güran, Hagit Baris, Yavuz Bayram, Adi Mory, Laura Shapiro-Kulnane, Craig A. Hodges, Zeynep Coban‐Akdemir, Serap Turan, Shalini N. Jhangiani, Focco van den Akker, Charles L. Hoppel, Helen K. Salz, James R. Lupski, David A. Buchner

    Gepubliceerd in 2018
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  11. 11
    Variant‐level matching for diagnosis and discovery: Challenges and opportunities

    Variant‐level matching for diagnosis and discovery: Challenges and opportunities door Eliete da S. Rodrigues, Sean Griffith, Renan Paulo Martin, Corina Antonescu, Jennifer E. Posey, Zeynep Coban‐Akdemir, Shalini N. Jhangiani, Kimberly F. Doheny, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Assaf Sheffer, Jessica X. Chong, Yaron Einhorn, Miro Cupak, Nara Sobreira

    Gepubliceerd in 2022
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  12. 12
    Mechanisms for Complex Chromosomal Insertions

    Mechanisms for Complex Chromosomal Insertions door Shen Gu, Przemysław Szafrański, Zeynep Coban‐Akdemir, Bo Yuan, M. Lance Cooper, Maria A. Magriñá, Carlos A. Bacino, Seema R. Lalani, Amy M. Breman, Janice Smith, Ankita Patel, Rodger Song, Weimin Bi, Sau Wai Cheung, Claudia M.B. Carvalho, Paweł Stankiewicz, James R. Lupski

    Gepubliceerd in 2016
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  13. 13
    A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

    A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy door Svein I. Støve, Marina Blenski, Asbjørg Stray‐Pedersen, Klaas J. Wierenga, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, David L. Crawford, Nina McTiernan, Line M. Myklebust, Gabriela Purcarin, René McNall-Knapp, Alexandrea Wadley, John W. Belmont, Jeffrey Kim, James R. Lupski, Thomas Arnesen

    Gepubliceerd in 2018
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  14. 14
    Phenotypic expansion of <i>POGZ</i>‐related intellectual disability syndrome (White‐Sutton syndrome)

    Phenotypic expansion of <i>POGZ</i>‐related intellectual disability syndrome (White‐Sutton syndrome) door Nurit Assia Batzir, Jennifer E. Posey, Xiaofei Song, Zeynep Coban‐Akdemir, Jill A. Rosenfeld, Chester Brown, Emily Chen, Shannon Holtrop, Elizabeth Mizerik, Margarita Nieto Moreno, Katelyn Payne, Annick Raas‐Rothschild, Richard H. Scott, Hilary J. Vernon, Neda Zadeh, James R. Lupski, V. Reid Sutton

    Gepubliceerd in 2019
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  15. 15
    Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis

    Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis door Nuriye Dinçkan, Renqian Du, Lauren E. Petty, Zeynep Coban‐Akdemir, Shalini N. Jhangiani, Ingrid S. Paine, Evan H. Baugh, Arzu Pınar Erdem, Hülya Kayserili, HarshaVardhan Doddapaneni, Jianhong Hu, Donna M. Muzny, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski, Zehra Oya Uyguner, Jennifer E. Below, Ariadne Letra

    Gepubliceerd in 2017
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  16. 16
    Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment

    Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment door Raquel Ruiz‐García, Alexander Vargas‐Hernández, Iván K. Chinn, Laura S. Angelo, Tram N. Cao, Zeynep Coban‐Akdemir, Shalini N. Jhangiani, Qingchang Meng, Lisa R. Forbes, Donna M. Muzny, Luís M. Allende, M S Ehlayel, Richard A. Gibbs, James R. Lupski, Gülbû Uzel, Jordan S. Orange, Emily M. Mace

    Gepubliceerd in 2018
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  17. 17
    Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

    Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles door Zeynep Coban‐Akdemir, Janson J. White, Xiaofei Song, Shalini N. Jhangiani, Jawid M. Fatih, Tomasz Gambin, Yavuz Bayram, Iván K. Chinn, Ender Karaca, Jaya Punetha, M. Cecilia Poli, Eric Boerwinkle, Chad A. Shaw, Jordan S. Orange, Richard A. Gibbs, Tuuli Lappalainen, James R. Lupski, Claudia M.B. Carvalho

    Gepubliceerd in 2018
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  18. 18
    NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

    NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy door Zain Dardas, Jawid M. Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M. Grochowski, Edward G. Jones, Shalini N. Jhangiani, Xander H.T. Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E. Posey, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Zeynep Coban‐Akdemir, Shaine A. Morris

    Gepubliceerd in 2024
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  19. 19
    Myc and SAGA rewire an alternative splicing network during early somatic cell reprogramming

    Myc and SAGA rewire an alternative splicing network during early somatic cell reprogramming door Calley Hirsch, Zeynep Coban‐Akdemir, Li Wang, Gowtham Jayakumaran, Dan Trcka, Alexander Weiß, J. Javier Hernández, Qun Pan, Hong Han, Xueping Xu, Zheng Xia, Andrew P. Salinger, Marenda A. Wilson, Frederick S. Vizeacoumar, Alessandro Datti, Wei Li, Austin J. Cooney, Michelle Barton, Benjamin J. Blencowe, Jeffrey L. Wrana, Sharon Dent

    Gepubliceerd in 2015
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  20. 20
    REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis

    REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis door Yavuz Bayram, Janson J. White, Nursel Elçioğlu, Megan T. Cho, Neda Zadeh, Asuman Gedikbaşı, Şükrü Palanduz, Şükrü Öztürk, Kıvanç Çefle, Özgür Kasapçopur, Zeynep Coban‐Akdemir, Davut Pehli̇van, Amber Begtrup, Claudia M.B. Carvalho, Ingrid S. Paine, Ali Menteş, Kıvanç Bektaş Kayhan, Ender Karaca, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski

    Gepubliceerd in 2017
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