检索结果 - Shareef Nahas

Refine Results
  1. 1
    ATM–Dependent MiR-335 Targets CtIP and Modulates the DNA Damage Response

    ATM–Dependent MiR-335 Targets CtIP and Modulates the DNA Damage Response 由 Nathan Martin, Kotoka Nakamura, Robert C. Davies, Shareef Nahas, Christina Brown, Rashmi Tunuguntla, Richard A. Gatti, Hailiang Hu

    出版 2013
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  2. 2
    Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons

    Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons 由 Chih‐Hung Lai, Helen H. Chun, Shareef Nahas, Midori Mitui, Kristin M. Gamo, Liutao Du, Richard A. Gatti

    出版 2004
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  3. 3
    Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: Maximum entropy estimates of splice junction strengths

    Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: Maximum entropy estimates of splice junction strengths 由 Laura Eng, Gabriela Coutinho, Shareef Nahas, G Yeo, Robert Tanouye, Mahnoush Babaei, Thilo Dörk, Christopher B. Burge, Richard A. Gatti

    出版 2003
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  4. 4
    Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia

    Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia 由 S S Devgan, Özden Sanal, Carsten Doil, Kotoka Nakamura, Shareef Nahas, Kelly Pettijohn, Jiří Bártek, Claudia Lukas, Jiří Lukáš, Richard A. Gatti

    出版 2011
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  5. 5
    A New Series of Small Molecular Weight Compounds Induce Read Through of All Three Types of Nonsense Mutations in the ATM Gene

    A New Series of Small Molecular Weight Compounds Induce Read Through of All Three Types of Nonsense Mutations in the ATM Gene 由 Liutao Du, Michael E. Jung, Robert Damoiseaux, Gladys C. Completo, Francesca Fike, Jin‐Mo Ku, Shareef Nahas, Cijing Piao, Hailiang Hu, Richard A. Gatti

    出版 2013
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  6. 6
    Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk

    Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk 由 Midori Mitui, Shareef Nahas, Liutao Du, Ziguo Yang, Chih‐Hung Lai, Kotoka Nakamura, S. Arroyo, S. P. Scott, A. Purayidom, Patrick Concannon, Martin F. Lavin, Richard A. Gatti

    出版 2008
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  7. 7
    Nonaminoglycoside compounds induce readthrough of nonsense mutations

    Nonaminoglycoside compounds induce readthrough of nonsense mutations 由 Liutao Du, Robert Damoiseaux, Shareef Nahas, Kun Gao, Hailiang Hu, Julianne M. Pollard, Jimena Goldstine, Michael E. Jung, Susanne M. Henning, Carmen Bertoni, Richard A. Gatti

    出版 2009
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  8. 8
    Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

    Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease 由 Nathaly M. Sweeney, Shareef Nahas, Shimul Chowdhury, Serge Batalov, Michelle M. Clark, Sara Caylor, Julie A. Cakici, John J. Nigro, Yan Ding, Narayanan Veeraraghavan, Charlotte A. Hobbs, David Dimmock, Stephen F. Kingsmore

    出版 2021
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  9. 9
    MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significance

    MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significance 由 Brian Kwok, Jeff Hall, John S. Witte, Yin Xu, Prashanti Reddy, Keming Lin, Rachel Flamholz, Bashar Dabbas, Aine Yung, Jenan Al-Hafidh, Emily Balmert, Christine Vaupel, Carlos Hader, Matthew J. McGinniss, Shareef Nahas, Julie Kines, Rafael Bejar

    出版 2015
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  10. 10
    Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

    Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization 由 Lauge Farnaes, Amber Hildreth, Nathaly M. Sweeney, Michelle M. Clark, Shimul Chowdhury, Shareef Nahas, Julie A. Cakici, Wendy Benson, Robert H. Kaplan, Richard Kronick, Matthew N. Bainbridge, Jennifer Friedman, Jeffrey J. Gold, Yan Ding, Narayanan Veeraraghavan, David Dimmock, Stephen F. Kingsmore

    出版 2018
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  11. 11
    Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots

    Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots 由 Yan Ding, Mallory Owen, Jennie Le, Serge Batalov, Kevin Chau, Yong Hyun Kwon, Lucita Van Der Kraan, Zaira Bezares-Orin, Zhanyang Zhu, Narayanan Veeraraghavan, Shareef Nahas, Matthew Bainbridge, Joe Gleeson, Rebecca J. Baer, Gretchen Bandoli, Christina Chambers, Stephen F. Kingsmore

    出版 2023
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  12. 12
    Impact of TP53 mutation variant allele frequency on phenotype and outcomes in myelodysplastic syndromes

    Impact of TP53 mutation variant allele frequency on phenotype and outcomes in myelodysplastic syndromes 由 David A. Sallman, Rami S. Komrokji, Christine Vaupel, Thomas Cluzeau, Susan Geyer, Kathy L. McGraw, Najla H. Al Ali, Jeffrey E. Lancet, Matthew J. McGinniss, Shareef Nahas, Alexander Smith, Austin Kulasekararaj, G J Mufti, Alan F. List, Jeff Hall, Eric Padron

    出版 2015
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  13. 13
    Identification of SARS-CoV-2 variants using viral sequencing for the Centers for Disease Control and Prevention genomic surveillance program

    Identification of SARS-CoV-2 variants using viral sequencing for the Centers for Disease Control and Prevention genomic surveillance program 由 Chirayu Goswami, Michael Sheldon, Christian Bixby, Mehdi Keddache, Alexander Bogdanowicz, Yihe Wang, Jonathan Schultz, Jessica McDevitt, James LaPorta, Elaine Kwon, Steven Buyske, Dana Garbolino, Glenys Biloholowski, Alex Pastuszak, Mary Storella, Amit Bhalla, Florence Charlier-Rodriguez, Russ Hager, Robin Grimwood, Shareef Nahas

    出版 2022
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  14. 14
    Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU*

    Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU* 由 Erica Sanford Kobayashi, Michelle M. Clark, Lauge Farnaes, Matthew R. Williams, James C. Perry, Elizabeth Ingulli, Nathaly M. Sweeney, Ami Doshi, Jeffrey J. Gold, Benjamin Briggs, Matthew N. Bainbridge, Michele Feddock, Kelly Watkins, Shimul Chowdhury, Shareef Nahas, David Dimmock, Stephen F. Kingsmore, Nicole G. Coufal

    出版 2019
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  15. 15
    Developmental and temporal characteristics of clonal sperm mosaicism

    Developmental and temporal characteristics of clonal sperm mosaicism 由 Xiaoxu Yang, Martin W. Breuss, Xin Xu, Danny Antaki, Kiely N. James, Valentina Stanley, Laurel Ball, Renee D. George, Sara A. Wirth, Beibei Cao, An Nguyen, Jennifer McEvoy‐Venneri, Guoliang Chai, Shareef Nahas, Lucitia Van Der Kraan, Yan Ding, Jonathan Sebat, Joseph G. Gleeson

    出版 2021
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  16. 16
    Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

    Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy 由 Jennifer Friedman, Desirée E.C. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing‐Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek Omar, Tawfeg Ben‐Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson

    出版 2019
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  17. 17
    Clinical characterization of Collagen <scp>XII</scp>‐related disease caused by biallelic <i>COL12A1</i> variants

    Clinical characterization of Collagen <scp>XII</scp>‐related disease caused by biallelic <i>COL12A1</i> variants 由 Riley M. McCarty, Dimah Saade, Pinki Munot, Chamindra G. Laverty, Hailey Pinz, Yaqun Zou, Meghan McAnally, Pomi Yun, Cuixia Tian, Ying Hu, Lucy Feng, Rahul Phadke, Sophia Ceulemans, Pilar Magoulas, Andrew J. Skalsky, Jennifer Friedman, Stephen R. Braddock, Sarah Neuhaus, Denise Malicki, Matthew N. Bainbridge, Shareef Nahas, David Dimmock, Stephen F. Kingsmore, Timothy Lotze, A. Reghan Foley, Francesco Muntoni, Volker Straub, Sandra Donkervoort, Carsten G. Bönnemann

    出版 2025
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  18. 18
    Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

    Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome 由 Mallory Owen, Anna‐Kaisa Niemi, David Dimmock, Mark Speziale, Mark Nespeca, Kevin Chau, Luca Van Der Kraan, Meredith S. Wright, Christian Holm Hansen, Narayanan Veeraraghavan, Yan Ding, Jerica Lenberg, Shimul Chowdhury, Charlotte A. Hobbs, Serge Batalov, Zhanyang Zhu, Shareef Nahas, Sheldon Gilmer, G. R. Knight, Sébastien Lefebvre, John Reynders, Thomas Defay, Jacqueline C. Weir, Vicki S. Thomson, Louise Fraser, Bryan R. Lajoie, Tim K McPhail, Shyamal Mehtalia, Chris M. Kunard, Kevin P. Hall, Stephen F. Kingsmore

    出版 2021
    获取全文 获取全文
    Carta
    加到收藏夹
    Saved in:
  19. 19
    Functional Precision Medicine Identifies New Therapeutic Candidates for Medulloblastoma

    Functional Precision Medicine Identifies New Therapeutic Candidates for Medulloblastoma 由 Jessica M. Rusert, Edwin F. Juarez, Sebastian Brabetz, James Jensen, Alexandra Garancher, Lianne Q. Chau, Silvia K. Tacheva-Grigorova, Sameerah Wahab, Yoko T. Udaka, Darren Finlay, Huriye Seker‐Cin, Brendan Reardon, Susanne Gröbner, Jonathan Serrano, Jonas Ecker, Lin Qi, Mari Kogiso, Yuchen Du, Patricia Baxter, Jacob J. Henderson, Michael E. Berens, Kristiina Vuori, Till Milde, Yoon-Jae Cho, Xiao‐Nan Li, James M. Olson, Iris Reyes, Matija Snuderl, Terence C. Wong, David Dimmock, Shareef Nahas, Denise Malicki, John R. Crawford, Michael L. Levy, Eliezer M. Van Allen, Stefan M. Pfister, Pablo Tamayo, Marcel Kool, Jill P. Mesirov, Robert J. Wechsler‐Reya

    出版 2020
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  20. 20
    Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

    Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis 由 Ricardo Moreno Traspas, Tze Shin Teoh, Pui‐Mun Wong, Michael Maier, Crystal Y. Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Al‐Sannaa, Eissa Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stéphane Bézieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Ping Ping Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hülya Kayserili, Kimberly A. Kripps, Shareef Nahas, Eric P. Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Lazari Sandoval, Elisa de Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr Alsaleem, Raeda M. BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez‐Herrera, Suliman Khan, Peter Bauer, Benjamin Cogné, Aida M. Bertoli‐Avella, Marie Vincent, Katta M. Girisha, Bruno Reversade

    出版 2022
    获取全文
    Artigo
    加到收藏夹
    Saved in:

检索工具: