Resultats de la cerca - James T. Lu

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  1. 1
    Genotype–Phenotype Correlation — Promiscuity in the Era of Next-Generation Sequencing

    Genotype–Phenotype Correlation — Promiscuity in the Era of Next-Generation Sequencing per James T. Lu, Philippe M. Campeau, Brendan Lee

    Publicat 2014
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  2. 2
    An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data

    An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data per Yibin Wang, James T. Lu, Jin Yu, Richard A. Gibbs, Fuli Yu

    Publicat 2013
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  3. 3
    S gene dropout patterns in SARS-CoV-2 tests suggest spread of the H69del/V70del mutation in the US

    S gene dropout patterns in SARS-CoV-2 tests suggest spread of the H69del/V70del mutation in the US per Nicole L. Washington, Simon White, Kelly M. Schiabor Barrett, Elizabeth T. Cirulli, Alexandre Bolze, James T. Lu

    Publicat 2020
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  4. 4
    The<i>KAT6B</i>-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms

    The<i>KAT6B</i>-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms per Philippe M. Campeau, James T. Lu, Brian C. Dawson, Ivo F.A.C. Fokkema, Stephen P. Robertson, Richard A. Gibbs, Brendan Lee

    Publicat 2012
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  5. 5
    Long-term COVID-19 symptoms in a large unselected population

    Long-term COVID-19 symptoms in a large unselected population per Elizabeth T. Cirulli, Kelly M. Schiabor Barrett, Stephen Riffle, Alexandre Bolze, Iva Neveux, Shaun Dabe, Joseph J. Grzymski, James T. Lu, Nicole L. Washington

    Publicat 2020
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  6. 6
    A bifunctional nociceptin and mu opioid receptor agonist is analgesic without opioid side effects in nonhuman primates

    A bifunctional nociceptin and mu opioid receptor agonist is analgesic without opioid side effects in nonhuman primates per Huiping Ding, Norikazu Kiguchi, Dennis Yasuda, Pankaj Daga, Willma E. Polgar, James J. Lu, Paul W. Czoty, Shiroh Kishioka, Nurulain T. Zaveri, Mei‐Chuan Ko

    Publicat 2018
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  7. 7
    Saliva is less sensitive than nasopharyngeal swabs for COVID-19 detection in the community setting

    Saliva is less sensitive than nasopharyngeal swabs for COVID-19 detection in the community setting per David G. Becker, Efren Sandoval, Aakash Amin, Peter De Hoff, Amberly Diets, Nicole Leonetti, Yan Wei Lim, Christie Elliott, Louise C. Laurent, Joseph J. Grzymski, James T. Lu

    Publicat 2020
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  8. 8
    Exome Sequencing Identifies a Novel Homozygous Mutation in the Phosphate Transporter SLC34A1 in Hypophosphatemia and Nephrocalcinosis

    Exome Sequencing Identifies a Novel Homozygous Mutation in the Phosphate Transporter SLC34A1 in Hypophosphatemia and Nephrocalcinosis per Abbhirami Rajagopal, Débora Braslavsky, James T. Lu, Soledad Kleppe, Florencia Clément, Hamilton Cassinelli, David S. Liu, José Miguel Liern, Graciela Vallejo, Ignacio Bergadá, Richard A. Gibbs, Philippe M. Campeau, Brendan Lee

    Publicat 2014
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  9. 9
    Centrosome Amplification Is Sufficient to Promote Spontaneous Tumorigenesis in Mammals

    Centrosome Amplification Is Sufficient to Promote Spontaneous Tumorigenesis in Mammals per Michelle S. Levine, Björn Bakker, Bram Boeckx, Julia Moyett, James T. Lu, Benjamin Vitre, Diana C.J. Spierings, Peter M. Lansdorp, Don W. Cleveland, Diether Lambrechts, Floris Foijer, Andrew J. Holland

    Publicat 2017
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  10. 10
    Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

    Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis per Philippe M. Campeau, James T. Lu, Gautam Sule, Ming‐Ming Jiang, Yun‐Ui Bae, Simran Madan, Wolfgang Högler, N. Shaw, Steven Mumm, Richard A. Gibbs, Michael P. Whyte, Brendan H. Lee

    Publicat 2012
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  11. 11
    Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts

    Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts per Elizabeth T. Cirulli, Simon White, Robert W. Read, Gai Elhanan, William J. Metcalf, Francisco Tanudjaja, Donna M. Fath, Efren Sandoval, Magnus Isaksson, Karen Schlauch, Joseph J. Grzymski, James T. Lu, Nicole L. Washington

    Publicat 2020
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  12. 12
    A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans

    A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans per Alexandre Bolze, Fernando L. Méndez, Simon White, Francisco Tanudjaja, Magnus Isaksson, Ruomu Jiang, Andrew Dei Rossi, Elizabeth T. Cirulli, Misha Rashkin, William J. Metcalf, Joseph J. Grzymski, William Lee, James T. Lu, Nicole L. Washington

    Publicat 2019
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  13. 13
    Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

    Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia per Adetutu T. Egunsola, Yangjin Bae, Ming-Ming Jiang, David S. Liu, Yuqing Chen-Evenson, Terry Bertin, Shan Chen, James T. Lu, Lisette Nevarez, Nurit Magal, Annick Raas‐Rothschild, Eric C. Swindell, Daniel H. Cohn, Richard A. Gibbs, Philippe M. Campeau, Mordechai Shohat, Brendan Lee

    Publicat 2017
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  14. 14
    Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an <i>IFITM</i> <i>5</i> Mutation

    Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an <i>IFITM</i> <i>5</i> Mutation per Jay R. Shapiro, Caressa Lietman, Monica Grover, James T. Lu, Sandesh C.S. Nagamani, Brian C. Dawson, Dustin Baldridge, Matthew N. Bainbridge, D.H. Cohn, Maria Blazo, Timothy T. Roberts, Feng-Shu Brennen, Yimei Wu, Richard A. Gibbs, Pamela Melvin, Philippe M. Campeau, Brendan Lee

    Publicat 2013
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  15. 15
    Next-generation sequencing for disorders of low and high bone mineral density

    Next-generation sequencing for disorders of low and high bone mineral density per Gautam Sule, Philippe M. Campeau, V. W. Zhang, Sandesh C.S. Nagamani, Brian C. Dawson, Monica Grover, Carlos A. Bacino, V. Reid Sutton, Nicola Brunetti‐Pierri, James T. Lu, Edmond G. Lemire, Richard A. Gibbs, Daniel H. Cohn, Hong Cui, L. Wong, Brendan H. Lee

    Publicat 2013
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  16. 16
    Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

    Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase per Philippe M. Campeau, Guy M. Lenk, James T. Lu, Yangjin Bae, Lindsay C. Burrage, Peter D. Turnpenny, Jorge Román Corona‐Rivera, Lucia Morandi, Marina Mora, Heiko Reutter, Anneke T. Vulto-van Silfhout, Laurence Faivre, Eric Haan, Richard A. Gibbs, Miriam H. Meisler, Brendan H. Lee

    Publicat 2013
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  17. 17
    SARS-CoV-2 variant Delta rapidly displaced variant Alpha in the United States and led to higher viral loads

    SARS-CoV-2 variant Delta rapidly displaced variant Alpha in the United States and led to higher viral loads per Alexandre Bolze, Elizabeth T. Cirulli, Shishi Luo, Simon White, Dana Wyman, Andrew Dei Rossi, Henrique Machado, Tyler Cassens, Sharoni Jacobs, Kelly M. Schiabor Barrett, Kevin Tsan, Jason Nguyen, Jimmy M. Ramirez, Efren Sandoval, Xueqing Wang, David Wong, David G. Becker, Marc Laurent, James T. Lu, Magnus Isaksson, Nicole L. Washington, William Lee

    Publicat 2021
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  18. 18
    SARS-CoV-2 variant Delta rapidly displaced variant Alpha in the United States and led to higher viral loads

    SARS-CoV-2 variant Delta rapidly displaced variant Alpha in the United States and led to higher viral loads per Alexandre Bolze, Shishi Luo, Simon White, Elizabeth T. Cirulli, Dana Wyman, Andrew Dei Rossi, Henrique Machado, Tyler Cassens, Sharoni Jacobs, Kelly M. Schiabor Barrett, Francisco Tanudjaja, Kevin Tsan, Jason Nguyen, Jimmy M. Ramirez, Efren Sandoval, Xueqing Wang, David Wong, David G. Becker, Marc Laurent, James T. Lu, Magnus Isaksson, Nicole L. Washington, William Lee

    Publicat 2022
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  19. 19
    Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome

    Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome per Philippe M. Campeau, Jaeseung Kim, James T. Lu, Jeremy Schwartzentruber, Omar Abdul‐Rahman, Silke Schlaubitz, David M. Murdock, Ming-Ming Jiang, Edward J. Lammer, Gregory M. Enns, William J. Rhead, Jon Rowland, Stephen P. Robertson, Valérie Cormier‐Daire, Matthew N. Bainbridge, Xiang‐Jiao Yang, Marie‐Claude Gingras, Richard A. Gibbs, David S. Rosenblatt, Jacek Majewski, Brendan Lee

    Publicat 2012
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  20. 20
    <i>WNT1</i> Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

    <i>WNT1</i> Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta per Christine Lainé, Kyu Sang Joeng, Philippe M. Campeau, Riku Kiviranta, Kati Tarkkonen, Monica Grover, James T. Lu, Minna Pekkinen, Maija Wessman, Terhi J. Heino, Vappu Nieminen-Pihala, Mira Aronen, Tero Laine, Heikki Kröger, William G. Cole, Anna‐Elina Lehesjoki, Lisette Nevarez, Deborah Krakow, Cynthia J. Curry, Daniel H. Cohn, Richard A. Gibbs, Brendan Lee, Outi Mäkitie

    Publicat 2013
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