Showing 1 - 20 results of 32 for search 'Jennifer E. Posey', query time: 0.08s Refine Results
  1. 1
    Genome sequencing and implications for rare disorders

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

    Published 2019-06-01
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  2. 2
    Target DNA structure plays a critical role in RAG transposition.

    Target DNA structure plays a critical role in RAG transposition. by Jennifer E Posey, Malgorzata J Pytlos, Richard R Sinden, David B Roth

    Published 2006-11-01
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  3. 3
    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 by Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A. Gibbs, Ugur Sezerman, Jennifer E. Posey, James R. Lupski, Zeynep Coban-Akdemir

    Published 2024-04-01
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  4. 4
    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 by Tugce Bozkurt‑Yozgatli, Davut Pehlivan, Richard A. Gibbs, Ugur Sezerman, Jennifer E. Posey, James R. Lupski, Zeynep Coban‑Akdemir

    Published 2024-08-01
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  5. 5
    Lysinuric protein intolerance presenting with multiple fractures

    Lysinuric protein intolerance presenting with multiple fractures by Jennifer E. Posey, Lindsay C. Burrage, Marcus J. Miller, Pengfei Liu, Matthew T. Hardison, Sarah H. Elsea, Qin Sun, Yaping Yang, Alecia S. Willis, Alan E. Schlesinger, Carlos A. Bacino, Brendan H. Lee

    Published 2014-01-01
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  6. 6
    PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

    PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data by 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

    Published 2021-08-01
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  7. 7
    Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS)

    Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS) by Shan Chen, Mahim Jain, Shalini Jhangiani, Zeynep C Akdemir, Philippe M Campeau, Robert F Klein, Carrie Nielson, Hongzheng Dai, Donna M Muzny, Eric Boerwinkle, Richard A Gibbs, Eric S Orwoll, James R Lupski, Jennifer E Posey, Brendan Lee

    Published 2020-03-01
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  8. 8
    Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

    Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy by Jaya Punetha, Ender Karaca, Alper Gezdirici, Ryan E. Lamont, Davut Pehlivan, Dana Marafi, Juan P. Appendino, Jill V. Hunter, Zeynep C. Akdemir, Jawid M. Fatih, Shalini N. Jhangiani, Richard A. Gibbs, A. Micheil Innes, Jennifer E. Posey, James R. Lupski

    Published 2019-08-01
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  9. 9
    Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant

    Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant by 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

    Published 2021-10-01
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  10. 10
    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 by 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

    Published 2024-04-01
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  11. 11
    Using multiplexed functional data to reduce variant classification inequities in underrepresented populations

    Using multiplexed functional data to reduce variant classification inequities in underrepresented populations by Moez Dawood, Shawn Fayer, Sriram Pendyala, Mason Post, Divya Kalra, Karynne Patterson, Eric Venner, Lara A. Muffley, Douglas M. Fowler, Alan F. Rubin, Jennifer E. Posey, Sharon E. Plon, James R. Lupski, Richard A. Gibbs, Lea M. Starita, Carla Daniela Robles-Espinoza, Willow Coyote-Maestas, Irene Gallego Romero

    Published 2024-12-01
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  12. 12
    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 by 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

    Published 2019-07-01
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  13. 13
    Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

    Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network by Heidi Cope, Rebecca Spillmann, Jill A. Rosenfeld, Elly Brokamp, Rebecca Signer, Kelly Schoch, Emily Glanton, Jennifer A. Sullivan, Ellen Macnamara, Sharyn Lincoln, Katie Golden‐Grant, Undiagnosed Diseases Network, James P. Orengo, Gary Clark, Lindsay C. Burrage, Jennifer E. Posey, Jaya Punetha, Amy Robertson, Joy Cogan, John A. Phillips III, Julian Martinez‐Agosto, Vandana Shashi

    Published 2020-10-01
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  14. 14
    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 by 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

    Published 2024-01-01
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  15. 15
    Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

    Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy by Dana Marafi, Tadahiro Mitani, Sedat Isikay, Jozef Hertecant, Mohammed Almannai, Kandamurugu Manickam, Rami Abou Jamra, Ayman W. El‐Hattab, Jaishen Rajah, Jawid M. Fatih, Haowei Du, Ender Karaca, Yavuz Bayram, Jaya Punetha, Jill A. Rosenfeld, Shalini N. Jhangiani, Eric Boerwinkle, Zeynep C. Akdemir, Serkan Erdin, Jill V. Hunter, Richard A. Gibbs, Davut Pehlivan, Jennifer E. Posey, James R. Lupski

    Published 2020-05-01
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  16. 16
    An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports KAT6B as a novel neuroblastoma susceptibility gene

    An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports KAT6B as a novel neuroblastoma susceptibility gene by Hyunjung Gu, Yao Yu, Saumya Dushyant Sisoudiya, Pamela Mishra, He Li, Jeremy M. Schraw, Michael E. Scheurer, Donna M. Muzny, Danielle Mitchell, Olga Taylor, Shalini N. Jhangiani, Shannon Dugan-Perez, Yifan Wu, Harsha Doddapaneni, Sravya Venkata Bhamidipati, Marie-Claude Gingras, Jennifer E. Posey, Richard A. Gibbs, Chad D. Huff, Sharon E. Plon, Philip J. Lupo, Aniko Sabo

    Published 2025-01-01
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  17. 17
    AHDC1 missense mutations in Xia-Gibbs syndrome

    AHDC1 missense mutations in Xia-Gibbs syndrome by Michael M. Khayat, Jianhong Hu, Yunyun Jiang, He Li, Varuna Chander, Moez Dawood, Adam W. Hansen, Shoudong Li, Jennifer Friedman, Laura Cross, Emilia K. Bijlsma, Claudia A.L. Ruivenkamp, Francis H. Sansbury, Jeffrey W. Innis, Jessica Omark O’Shea, Qingchang Meng, Jill A. Rosenfeld, Kirsty McWalter, Michael F. Wangler, James R. Lupski, Jennifer E. Posey, David Murdock, Richard A. Gibbs

    Published 2021-10-01
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  18. 18
    An ELF4 hypomorphic variant results in NK cell deficiency

    An ELF4 hypomorphic variant results in NK cell deficiency by Sandra Andrea Salinas, Emily M. Mace, Matilde I. Conte, Chun Shik Park, Yu Li, Joshua I. Rosario-Sepulveda, Sanjana Mahapatra, Emily K. Moore, Evelyn R. Hernandez, Ivan K. Chinn, Abigail E. Reed, Barclay J. Lee, Alexander Frumovitz, Richard A. Gibbs, Jennifer E. Posey, Lisa R. Forbes Satter, Akaluck Thatayatikom, Eric J. Allenspach, Theodore G. Wensel, James R. Lupski, H. Daniel Lacorazza, Jordan S. Orange

    Published 2022-12-01
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  19. 19
    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 by 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

    Published 2022-10-01
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  20. 20
    Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

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

    Published 2020-10-01
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