Výsledky vyhledávání - Richard Person

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  1. 1
    Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a

    Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a Autor Linyan Meng, Richard Person, Arthur L. Beaudet

    Vydáno 2012
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  2. 2
    Epigenetic profiling at mouse imprinted gene clusters reveals novel epigenetic and genetic features at differentially methylated regions

    Epigenetic profiling at mouse imprinted gene clusters reveals novel epigenetic and genetic features at differentially methylated regions Autor Scott V. Dindot, Richard Person, Mark Strivens, Rejinaldo Garcia, Arthur L. Beaudet

    Vydáno 2009
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  3. 3
    Iron Deficiency in the Rat: Biochemical Studies of Brain Metabolism

    Iron Deficiency in the Rat: Biochemical Studies of Brain Metabolism Autor Bruce Mackler, Richard Person, Louise R Miller, A. R. Inamdar, C. A. Finch

    Vydáno 1978
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  4. 4
    Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model

    Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model Autor Linyan Meng, Richard Person, Wei Huang, Ping Zhu, Mauro Costa‐Mattioli, Arthur L. Beaudet

    Vydáno 2013
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  5. 5
    Iron deficiency in the rat. Physiological and biochemical studies of muscle dysfunction.

    Iron deficiency in the rat. Physiological and biochemical studies of muscle dysfunction. Autor C. A. Finch, Lantz Miller, A. R. Inamdar, Richard Person, Stephen Seiler, Bruce Mackler

    Vydáno 1976
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  6. 6
    Epigenetic Regulation of Protein-Coding and MicroRNA Genes by the Gfi1-Interacting Tumor Suppressor PRDM5

    Epigenetic Regulation of Protein-Coding and MicroRNA Genes by the Gfi1-Interacting Tumor Suppressor PRDM5 Autor Zhijun Duan, Richard Person, Hu-Hui Lee, Shi Huang, Jean Donadieu, Raffaele Badolato, H. Leighton Grimes, Thalia Papayannopoulou, Marshall S. Horwitz

    Vydáno 2007
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  7. 7
    Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

    Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster Autor Trilochan Sahoo, Daniela del Gaudio, Jennifer R. German, Marwan Shinawi, Sarika U. Peters, Richard Person, Adolfo D. Garnica, Sau Wai Cheung, Arthur L. Beaudet

    Vydáno 2008
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  8. 8
    Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1

    Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1 Autor Terry‐Lynn Young, Elizabeth Ives, Edward Lynch, Richard Person, Sandra S. Snook, L MacLaren, Tracey Cater, Aliesha Griffin, Bridget A. Fernandez, M K Lee, Mary‐Claire King, T Cator

    Vydáno 2001
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  9. 9
    Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

    Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2 Autor Richard Person, Feng-Qian Li, Zhijun Duan, Kathleen F. Benson, Jeremy Wechsler, Helen Α. Papadaki, George D. Eliopoulos, Christina L. Kaufman, Salvatore Bertolone, B Nakamoto, Thalia Papayannopoulou, H. Leighton Grimes, Marshall S. Horwitz

    Vydáno 2003
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  10. 10
    Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

    Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome Autor Angela L. Duker, Blake C. Ballif, Erawati V. Bawle, Richard Person, Sangeetha Mahadevan, Sarah Alliman, Regina Thompson, Ryan N. Traylor, Bassem A. Bejjani, Lisa G. Shaffer, Jill A. Rosenfeld, Allen N. Lamb, Trilochan Sahoo

    Vydáno 2010
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  11. 11
    Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

    Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Autor Przemysław Szafrański, Christian P. Schaaf, Richard Person, Ian B. Gibson, Zhilian Xia, Sangeetha Mahadevan, Joanna Wiszniewska, Carlos A. Bacino, Seema R. Lalani, Lorraine Potocki, Sung-Hae L. Kang, Ankita Patel, Sau Wai Cheung, Frank J. Probst, Brett H. Graham, Marwan Shinawi, Arthur L. Beaudet, Paweł Stankiewicz

    Vydáno 2010
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  12. 12
    <i>CACNA1I</i> gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

    <i>CACNA1I</i> gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders Autor Yousra El Ghaleb, Pauline E. Schneeberger, Monica L. Fernández‐Quintero, Stefanie M. Geisler, Simone Pelizzari, Abeltje M. Polstra, Johanna M. van Hagen, Jonas Denecke, Marta Campiglio, Klaus R. Liedl, Cathy A. Stevens, Richard Person, Stefan Rentas, Eric D. Marsh, Laura K. Conlin, Petronel Tuluc, Kerstin Kutsche, Bernhard E. Flucher

    Vydáno 2021
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  13. 13
    Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

    Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome Autor Christiane K. Bauer, Paolo Calligari, Francesca Clementina Radio, Viviana Caputo, Maria Lisa Dentici, N Falah, Frances A. High, Francesca Pantaleoni, Sabina Barresi, Andrea Ciolfi, Simone Pizzi, Alessandro Bruselles, Richard Person, Sarah Richards, Megan T. Cho, Daniela Judith Claps Sepulveda, S. Pro, Roberta Battini, Giuseppe Zampino, M. Cristina Digilio, Gianfranco Bocchinfuso, Bruno Dallapiccola, Lorenzo Stella, Marco Tartaglia

    Vydáno 2018
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  14. 14
    Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder

    Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder Autor Mythily Ganapathi, Leah R. Padgett, Kentaro Yamada, Orrin Devinsky, Rebecca Willaert, Richard Person, Ping‐Yee Billie Au, Julia Tagoe, Marie McDonald, Danielle Karlowicz, Barry Wolf, Joanna Lee, Yufeng Shen, Volkan Okur, Liyong Deng, Charles A. LeDuc, Jiayao Wang, Ashleigh S. Hanner, Raghavendra G. Mirmira, Myung Hee Park, Teresa L. Mastracci, Wendy K. Chung

    Vydáno 2019
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  15. 15
    Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

    Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders Autor Yaping Yang, Donna M. Muzny, Jeffrey G. Reid, Matthew N. Bainbridge, Alecia Willis, Patricia A. Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu, Matthew T. Hardison, Richard Person, Mir Reza Bekheirnia, Magalie S. Leduc, Amelia Kirby, Peter Pham, Jennifer Scull, Min Wang, Yan Ding, Sharon E. Plon, James R. Lupski, Arthur L. Beaudet, Richard A. Gibbs, Christine M. Eng

    Vydáno 2013
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  16. 16
    Molecular diagnostic experience of whole-exome sequencing in adult patients

    Molecular diagnostic experience of whole-exome sequencing in adult patients Autor 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

    Vydáno 2015
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  17. 17
    Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

    Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder Autor Przemysław Szafrański, Avinash V. Dharmadhikari, Erwin Brosens, Priyatansh Gurha, Katarzyna Kołodziejska, Zhishuo Ou, Piotr Dittwald, Tadeusz Majewski, K. Naga Mohan, Bo Chen, Richard Person, Dick Tibboel, Annelies de Klein, Jason Pinner, Maya Chopra, Girvan Malcolm, Gregory B. Peters, Susan Arbuckle, Sixto F. Guiang, Virginia A. Hustead, José Jessurun, Russel Hirsch, David P. Witte, Isabelle Maystadt, Neil J. Sebire, Richard Fisher, Claire Langston, Partha Sen, Paweł Stankiewicz

    Vydáno 2012
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  18. 18
    Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

    Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders Autor Halie May, Jae‐Hoon Jeong, Anya Revah‐Politi, Julie S. Cohen, Anna Chassevent, Júlia Baptista, Evan H. Baugh, Louise Bier, Armand Bottani, Maria resa Te Carminho A. Rodrigues, Charles Conlon, Joël Fluss, Michel Guipponi, Chong Ae Kim, Naomichi Matsumoto, Richard Person, Michelle Primiano, Julia Rankin, Marwan Shinawi, Constance Smith‐Hicks, Aida Telegrafi, Samantha Toy, Yuri Uchiyama, Vimla S. Aggarwal, David B. Goldstein, Katherine W. Roche, Kwame Anyane‐Yeboa

    Vydáno 2021
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  19. 19
    POGZ truncating alleles cause syndromic intellectual disability

    POGZ truncating alleles cause syndromic intellectual disability Autor Janson J. White, Christine R. Beck, Tamar Harel, Jennifer E. Posey, Shalini N. Jhangiani, Sha Tang, Kelly D. Farwell, Zöe Powis, Nancy J. Mendelsohn, Janice Baker, Lynda Pollack, Kati J. Mason, Klaas J. Wierenga, Daniel K. Arrington, Melissa Hall, Apostolos Psychogios, Laura Fairbrother, Magdalena Walkiewicz, Richard Person, Zhiyv Niu, Jing Zhang, Jill A. Rosenfeld, Donna M. Muzny, Christine M. Eng, Arthur L. Beaudet, James R. Lupski, Eric Boerwinkle, Richard A. Gibbs, Yaping Yang, Fan Xia, V. Reid Sutton

    Vydáno 2016
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  20. 20
    Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

    Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing Autor Yaping Yang, Donna M. Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia A. Ward, Alicia Braxton, Min Wang, Christian Buhay, Narayanan Veeraraghavan, Alicia Hawes, Theodore Chiang, Magalie S. Leduc, Joke Beuten, Jing Zhang, Weimin He, Jennifer Scull, Alecia Willis, Megan Landsverk, William J. Craigen, Mir Reza Bekheirnia, Asbjørg Stray‐Pedersen, Pengfei Liu, Shu Wen, Wendy Alcaraz, Hong Cui, Magdalena Walkiewicz, Jeffrey G. Reid, Matthew N. Bainbridge, Ankita Patel, Eric Boerwinkle, Arthur L. Beaudet, James R. Lupski, Sharon E. Plon, Richard A. Gibbs, Christine M. Eng

    Vydáno 2014
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