Hasil Pencarian - Zeynep Coban‐Akdemir

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  1. 1
    Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders

    Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders oleh Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A. Gibbs, Ugur Sezerman, Jennifer E. Posey, James R. Lupski, Zeynep Coban-Akdemir

    Diterbitkan 2024-04-01
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  2. 2
    Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders

    Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders oleh Tugce Bozkurt‑Yozgatli, Davut Pehlivan, Richard A. Gibbs, Ugur Sezerman, Jennifer E. Posey, James R. Lupski, Zeynep Coban‑Akdemir

    Diterbitkan 2024-08-01
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  3. 3
    P669: VariantMatcher: A tool to enable connections amongst individuals with interest in a specific variant

    P669: VariantMatcher: A tool to enable connections amongst individuals with interest in a specific variant oleh Nara Sobreira, Sean Griffith, Corina Antonescu, Laura Vail, Jennifer Posey, Zeynep Coban-Akdemir, Shalini Jhangiani, Kimberly Doheny, James Lupski, David Valle, Ada Hamosh, Renan Martin

    Diterbitkan 2023-01-01
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  4. 4
    Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature

    Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature oleh Josefina Longeri Contreras, Mabel A. Ladino, Katherine Aránguiz, Gonzalo P. Mendez, Zeynep Coban-Akdemir, Zeynep Coban-Akdemir, Bo Yuan, Bo Yuan, Richard A. Gibbs, Lindsay C. Burrage, Lindsay C. Burrage, James R. Lupski, James R. Lupski, James R. Lupski, Ivan K. Chinn, Ivan K. Chinn, Tiphanie P. Vogel, Tiphanie P. Vogel, Jordan S. Orange, M. Cecilia Poli, M. Cecilia Poli, M. Cecilia Poli

    Diterbitkan 2021-05-01
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  5. 5
    PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

    PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data oleh Elizabeth Wohler, Renan Martin, Sean Griffith, Eliete da S. Rodrigues, Corina Antonescu, Jennifer E. Posey, Zeynep Coban-Akdemir, Shalini N. Jhangiani, Kimberly F. Doheny, James R. Lupski, David Valle, Ada Hamosh, Nara Sobreira

    Diterbitkan 2021-08-01
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  6. 6
    Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant

    Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant oleh Daniel G. Calame, Jawid M. Fatih, Isabella Herman, Zeynep Coban‐Akdemir, Haowei Du, Tadahiro Mitani, Shalini N. Jhangiani, Dana Marafi, Richard A. Gibbs, Jennifer E. Posey, Vidya P. Mehta, Carrie A. Mohila, Farida Abid, Timothy E. Lotze, Davut Pehlivan, Adekunle M. Adesina, James R. Lupski

    Diterbitkan 2021-10-01
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  7. 7
    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 oleh 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

    Diterbitkan 2024-04-01
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  8. 8
    Mechanisms for Complex Chromosomal Insertions.

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

    Diterbitkan 2016-11-01
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  9. 9
    Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome

    Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome oleh Alejandra Aird, Macarena Lagos, Macarena Lagos, Alexander Vargas-Hernández, Jennifer E. Posey, Zeynep Coban-Akdemir, Shalini Jhangiani, Shalini Jhangiani, Emily M. Mace, Anaid Reyes, Alejandra King, Felipe Cavagnaro, Lisa R. Forbes, Ivan K. Chinn, James R. Lupski, James R. Lupski, James R. Lupski, Jordan S. Orange, Maria Cecilia Poli, Maria Cecilia Poli

    Diterbitkan 2019-07-01
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  10. 10
    The impact of the Turkish population variome on the genomic architecture of rare disease traits

    The impact of the Turkish population variome on the genomic architecture of rare disease traits oleh Zeynep Coban-Akdemir, Xiaofei Song, Francisco C. Ceballos, Davut Pehlivan, Ender Karaca, Yavuz Bayram, Tadahiro Mitani, Tomasz Gambin, Tugce Bozkurt-Yozgatli, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Lewis, Pengfei Liu, Eric Boerwinkle, Ada Hamosh, Richard A. Gibbs, V. Reid Sutton, Nara Sobreira, Claudia M.B. Carvalho, Chad A. Shaw, Jennifer E. Posey, David Valle, James R. Lupski

    Diterbitkan 2024-01-01
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  11. 11
    Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics

    Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics oleh Maria Nicla Loviglio, Christine R. Beck, Janson J. White, Marion Leleu, Tamar Harel, Nicolas Guex, Anne Niknejad, Weimin Bi, Edward S. Chen, Isaac Crespo, Jiong Yan, Wu-Lin Charng, Shen Gu, Ping Fang, Zeynep Coban-Akdemir, Chad A. Shaw, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Jacques Rougemont, Ioannis Xenarios, James R. Lupski, Alexandre Reymond

    Diterbitkan 2016-11-01
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  12. 12
    Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

    Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. oleh Xi Luo, Jill A Rosenfeld, Shinya Yamamoto, Tamar Harel, Zhongyuan Zuo, Melissa Hall, Klaas J Wierenga, Matthew T Pastore, Dennis Bartholomew, Mauricio R Delgado, Joshua Rotenberg, Richard Alan Lewis, Lisa Emrick, Carlos A Bacino, Mohammad K Eldomery, Zeynep Coban Akdemir, Fan Xia, Yaping Yang, Seema R Lalani, Timothy Lotze, James R Lupski, Brendan Lee, Hugo J Bellen, Michael F Wangler, Members of the UDN

    Diterbitkan 2017-07-01
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  13. 13
    Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

    Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome oleh Claudia M. B. Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton, Eoghan Harrington, John Beaulaurier, Sissel Juul, Daniel J. Turner, Rupa S. Kanchi, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Baylor-Hopkins Center for Mendelian Genomics, Pawel Stankiewicz, John W. Belmont, Chad A. Shaw, Sau Wai Cheung, Neil A. Hanchard, V. Reid Sutton, Patricia I. Bader, James R. Lupski

    Diterbitkan 2019-04-01
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  14. 14
    The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

    The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation oleh Haowei Du, Angad Jolly, Christopher M. Grochowski, Bo Yuan, Moez Dawood, Shalini N. Jhangiani, He Li, Donna Muzny, Jawid M. Fatih, Zeynep Coban-Akdemir, Mary Esther Carlin, Angela E. Scheuerle, Karin Witzl, Jennifer E. Posey, Matthew Pendleton, Eoghan Harrington, Sissel Juul, P. J. Hastings, Weimin Bi, Richard A. Gibbs, Fritz J. Sedlazeck, James R. Lupski, Claudia M. B. Carvalho, Pengfei Liu

    Diterbitkan 2022-10-01
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  15. 15
    Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

    Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability oleh Ruizhi Duan, Hadia Hijazi, Elif Yilmaz Gulec, Hatice Koçak Eker, Silvia R. Costa, Yavuz Sahin, Zeynep Ocak, Sedat Isikay, Ozge Ozalp, Sevcan Bozdogan, Huseyin Aslan, Nursel Elcioglu, Débora R. Bertola, Alper Gezdirici, Haowei Du, Jawid M. Fatih, Christopher M. Grochowski, Gulsen Akay, Shalini N. Jhangiani, Ender Karaca, Shen Gu, Zeynep Coban-Akdemir, Jennifer E. Posey, Yavuz Bayram, V. Reid Sutton, Claudia M.B. Carvalho, Davut Pehlivan, Richard A. Gibbs, James R. Lupski

    Diterbitkan 2022-10-01
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  16. 16
    Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1

    Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1 oleh Mao Lin, Zhenlei Liu, Gang Liu, Sen Zhao, Chao Li, Weisheng Chen, Zeynep Coban Akdemir, Jiachen Lin, Xiaofei Song, Shengru Wang, Qiming Xu, Yanxue Zhao, Lianlei Wang, Yuanqiang Zhang, Zihui Yan, Sen Liu, Jiaqi Liu, Yixin Chen, Yuzhi Zuo, Xu Yang, Tianshu Sun, Xin‐Zhuang Yang, Yuchen Niu, Xiaoxin Li, Wesley You, Bintao Qiu, Chen Ding, Pengfei Liu, Shuyang Zhang, Claudia M. B. Carvalho, Jennifer E. Posey, Guixing Qiu, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, James R. Lupski, Zhihong Wu, Jianguo Zhang, Nan Wu

    Diterbitkan 2020-01-01
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  17. 17
    Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

    Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders oleh Bret L. Bostwick, Scott McLean, Jennifer E. Posey, Haley E. Streff, Karen W. Gripp, Alyssa Blesson, Nina Powell-Hamilton, Jessica Tusi, David A. Stevenson, Ellyn Farrelly, Louanne Hudgins, Yaping Yang, Fan Xia, Xia Wang, Pengfei Liu, Magdalena Walkiewicz, Marianne McGuire, Dorothy K. Grange, Marisa V. Andrews, Marybeth Hummel, Suneeta Madan-Khetarpal, Elena Infante, Zeynep Coban-Akdemir, Karol Miszalski-Jamka, John L. Jefferies, Members of the Undiagnosed Diseases Network, Jill A. Rosenfeld, Lisa Emrick, Kimberly M. Nugent, James R. Lupski, John W. Belmont, Brendan Lee, Seema R. Lalani

    Diterbitkan 2017-08-01
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  18. 18
    Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

    Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability oleh Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban-Akdemir, Janson White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, Paul Wordsworth, Mike Oldridge, Tracy Lester, Alistair D. Calder, Katja Dumic, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati Mason, Lynda C. Pollack, Allyn McConkie-Rosell, Wei Kelly, Marie McDonald, Natalie S. Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lucia R. Martelli, Vicente Odone Filho, Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho

    Diterbitkan 2022-01-01
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  19. 19
    Identification of novel candidate disease genes from de novo exonic copy number variants

    Identification of novel candidate disease genes from de novo exonic copy number variants oleh Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Amber N. Pursley, Sandesh C. S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell-Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth R. Roeder, Kimberly M. Nugent, Patricia I. Bader, Gary Bellus, Michael Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert Wildin, Anita E. Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P. Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L. Kang, Seema R. Lalani, Carlos A. Bacino, Arthur L. Beaudet, Amy M. Breman, Janice L. Smith, Sau Wai Cheung, James R. Lupski, Ankita Patel, Chad A. Shaw, Paweł Stankiewicz

    Diterbitkan 2017-09-01
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