Bilaketaren emaitzak - Jennifer E. Posey

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  1. 1
    Genome sequencing and implications for rare disorders

    Genome sequencing and implications for rare disorders nork Jennifer E. Posey

    Argitaratua 2019
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  2. 2
    Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

    Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research nork Michael F. Wangler, Shinya Yamamoto, Hsiao‐Tuan Chao, Jennifer E. Posey, Monte Westerfield, John Postlethwait, Philip Hieter, Kym M. Boycott, Philippe M. Campeau, Hugo J. Bellen

    Argitaratua 2017
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  3. 3
    A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

    A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics nork Regis A. James, Ian M. Campbell, Edward S. Chen, Philip M. Boone, Mitchell Rao, Matthew N. Bainbridge, James R. Lupski, Yaping Yang, Christine M. Eng, Jennifer E. Posey, Chad A. Shaw

    Argitaratua 2016
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  4. 4
    Exome variant discrepancies due to reference-genome differences

    Exome variant discrepancies due to reference-genome differences nork 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

    Argitaratua 2021
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  5. 5
    The phenotypic spectrum of Xia‐Gibbs syndrome

    The phenotypic spectrum of Xia‐Gibbs syndrome nork Yunyun Jiang, Michael F. Wangler, Amy L. McGuire, James R. Lupski, Jennifer E. Posey, Michael M. Khayat, David R. Murdock, Luis Sánchez‐Pulido, Chris P. Ponting, Fan Xia, Jill V. Hunter, Qingchang Meng, Mullai Murugan, Richard A. Gibbs

    Argitaratua 2018
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  6. 6
    Phenotypic expansion illuminates multilocus pathogenic variation

    Phenotypic expansion illuminates multilocus pathogenic variation nork 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

    Argitaratua 2018
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  7. 7
    Variant‐level matching for diagnosis and discovery: Challenges and opportunities

    Variant‐level matching for diagnosis and discovery: Challenges and opportunities nork 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

    Argitaratua 2022
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  8. 8
    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) nork 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

    Argitaratua 2019
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  9. 9
    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 nork 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

    Argitaratua 2024
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  10. 10
    Clinical, immunologic and genetic characteristics of 148 patients with NK cell deficiency

    Clinical, immunologic and genetic characteristics of 148 patients with NK cell deficiency nork Manar Abdalgani, Evelyn R. Hernandez, Luis Alberto Pedroza, Iván K. Chinn, Lisa Forbes Satter, Nicholas L. Rider, Pinaki P. Banerjee, M. Cecilia Poli, Sanjana Mahaptra, Debra Canter, Tram N. Cao, Linda Shawver, Sara Nandiwada, James R. Lupski, Jennifer E. Posey, Rajasekhar Ramakrishnan, Emily M. Mace, Jordan S. Orange

    Argitaratua 2025
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  11. 11
    Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

    Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation nork Jennifer E. Posey, Tamar Harel, Pengfei Liu, Jill A. Rosenfeld, Regis A. James, Zeynep H. Coban Akdemir, Magdalena Walkiewicz, Weimin Bi, Rui Xiao, Yan Ding, Fan Xia, Arthur L. Beaudet, Donna M. Muzny, Richard A. Gibbs, Eric Boerwinkle, Christine M. Eng, V. Reid Sutton, Chad A. Shaw, Sharon E. Plon, Yaping Yang, James R. Lupski

    Argitaratua 2016
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  12. 12
    Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

    Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions nork Tomasz Gambin, Qian Liu, Justyna A. Karolak, Christopher M. Grochowski, Nina Guanyi Xie, Lucia R. Wu, Yan Helen Yan, Ye Cao, Zeynep H. Coban Akdemir, Theresa A. Wilson, Shalini N. Jhangiani, Ed Chen, Christine M. Eng, Donna M. Muzny, Jennifer E. Posey, Yaping Yang, David Y. Zhang, Chad A. Shaw, Pengfei Liu, James R. Lupski, Paweł Stankiewicz

    Argitaratua 2020
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  13. 13
    Molecular diagnostic experience of whole-exome sequencing in adult patients

    Molecular diagnostic experience of whole-exome sequencing in adult patients nork Jennifer E. Posey, Jill A. Rosenfeld, Regis A. James, Matthew N. Bainbridge, Zhiyv Niu, Xia Wang, Shweta U. Dhar, Wojciech Wiszniewski, Zeynep H. Coban Akdemir, Tomasz Gambin, Fan Xia, Richard Person, Magdalena Walkiewicz, Chad A. Shaw, V. Reid Sutton, Arthur L. Beaudet, Donna M. Muzny, Christine M. Eng, Yaping Yang, Richard A. Gibbs, James R. Lupski, Eric Boerwinkle, Sharon E. Plon

    Argitaratua 2015
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  14. 14
    Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

    Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate nork Wu‐Lin Charng, Ender Karaca, Zeynep Coban‐Akdemir, Tomasz Gambin, Mehmed M. Atik, Shen Gu, Jennifer E. Posey, Shalini N. Jhangiani, Donna M. Muzny, HarshaVardhan Doddapaneni, Jianhong Hu, Eric Boerwinkle, Richard A. Gibbs, Jill A. Rosenfeld, Hong Cui, Fan Xia, Kandamurugu Manickam, Yaping Yang, Eissa Faqeih, Ali Al Asmari, Mohammed A. Saleh, Ayman W. El‐Hattab, James R. Lupski

    Argitaratua 2016
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  15. 15
    The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

    The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs... nork Jiaqi Liu, Yangzhong Zhou, Sen Liu, Xiaofei Song, Xinzhuang Yang, Yanhui Fan, Wei‐Sheng Chen, Zeynep Coban‐Akdemir, Zihui Yan, Yuzhi Zuo, Renqian Du, Zhenlei Liu, Bo Yuan, Sen Zhao, Gang Liu, Yixin Chen, Yanxue Zhao, Mao Lin, Qiankun Zhu, Yuchen Niu, Pengfei Liu, Shiro Ikegawa, You‐Qiang Song, Jennifer E. Posey, Guixing Qiu, Feng Zhang, Zhihong Wu, James R. Lupski, Nan Wu

    Argitaratua 2018
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  16. 16
    Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile

    Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile nork M. Cecilia Poli, Boris Rebolledo‐Jaramillo, Catalina Lagos, Joan Orellana, Gabriela Moreno, Luz M. Martín, Gonzalo Encina, Daniela Böhme, Víctor Faúndes, María Zavala, Trinidad Hasbún, Sara Fischer, Florencia Brito, Diego Araya, Manuel Lira, Javiera de la Cruz, Camila Astudillo, Guillermo Lay‐Son, Carolina Cares, Mariana Aracena, Esteban San Martin, Zeynep Coban‐Akdemir, Jennifer E. Posey, James R. Lupski, Gabriela M. Repetto

    Argitaratua 2024
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  17. 17
    Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)

    Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM) nork Kun Wang, Sen Zhao, Bowen Liu, Qianqian Zhang, Yaqi Li, Jiaqi Liu, Yan Shen, Xinghuan Ding, Jiachen Lin, Yong Qin Wu, Zihui Yan, Jia Chen, Xiaoxin Li, Xiaofei Song, Yuchen Niu, Jian Liu, Wei‐Sheng Chen, Ming Yue, Renqian Du, Cong Chen, Bo Long, Yisen Zhang, Xiangjun Tong, Shuyang Zhang, Jennifer E. Posey, Bo Zhang, Zhihong Wu, Joshua D. Wythe, Pengfei Liu, James R. Lupski, Xinjian Yang, Nan Wu

    Argitaratua 2018
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  18. 18
    A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

    A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders nork Kathie J. Ngo, Jessica E. Rexach, Hane Lee, Lauren E. Petty, Susan Perlman, Juliana M. Valera, Joshua L. Deignan, Yuanming Mao, Mamdouh Aker, Jennifer E. Posey, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, Eric Boerwinkle, Donna M. Muzny, Alexandra Nelson, Sharon Hassin‐Baer, Gemma Poke, Katherine Neas, Michael D. Geschwind, Wayne W. Grody, Richard A. Gibbs, Daniel H. Geschwind, James R. Lupski, Jennifer E. Below, Stanley F. Nelson, Brent L. Fogel

    Argitaratua 2019
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  19. 19
    NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

    NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease nork Paige Martin, Yu Kigoshi-Tansho, Roger B. Sher, Gianina Ravenscroft, Jennifer E. Stauffer, Rajesh Kumar, Ryo Yonashiro, Tina Müller, Christopher Griffith, William Allen, Davut Pehli̇van, Tamar Harel, Martin Zenker, Denise Howting, Denny Schanze, Eissa Faqeih, Naif A. M. Almontashiri, Reza Maroofian, Henry Houlden, Neda Mazaheri, Hamid Galehdari, Ganka Douglas, Jennifer E. Posey, Monique M. Ryan, James R. Lupski, Nigel G. Laing, Claudio A.P. Joazeiro, Gregory A. Cox

    Argitaratua 2020
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  20. 20
    IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease

    IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease nork Mara Cananzi, Elizabeth Wohler, Antonio Marzollo, Davide Colavito, Jing You, Huie Jing, Silvia Bresolin, Paola Gaio, Renan Paulo Martin, Claudia Mescoli, Sangeeta Bade, Jennifer E. Posey, Maurizio Dalle Carbonare, Wesley Tung, Shalini N. Jhangiani, Luca Bosa, Yu Zhang, Joselito Sobreira Filho, Maria Gabelli, Richárd Kellermayer, Howard A. Kader, Maria Oliva‐Hemker, Giorgio Perilongo, James R. Lupski, Alessandra Biffi, David Valle, Alberta Leon, Nara Sobreira, Helen C. Su, Anthony L. Guerrerio

    Argitaratua 2021
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