检索结果 - Claudia Gonzaga‐Jauregui

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  1. 1
    Human Genome Sequencing in Health and Disease

    Human Genome Sequencing in Health and Disease 由 Claudia Gonzaga‐Jauregui, James R. Lupski, Richard A. Gibbs

    出版 2011
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  2. 2
    Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis

    Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis 由 Piotr Dittwald, Tomasz Gambin, Claudia Gonzaga‐Jauregui, Claudia M.B. Carvalho, James R. Lupski, Paweł Stankiewicz, Anna Gambin

    出版 2012
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  3. 3
    Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America

    Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America 由 Roberto Giugliani, Silvia Castillo Taucher, Sylvia Hafez, João Bosco Oliveira, Mariana Rico-Restrepo, Paula Rozenfeld, Ignacio Zarante, Claudia Gonzaga‐Jauregui

    出版 2022
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  4. 4
    Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

    Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population 由 Claudia Gonzaga‐Jauregui, Candace Gamble, Bo Yuan, Samantha Penney, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Jacqueline T. Hecht

    出版 2014
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  5. 5
    Inhibition of Angiopoietin-Like Protein 3 With Evinacumab in Subjects With High and Severe Hypertriglyceridemia

    Inhibition of Angiopoietin-Like Protein 3 With Evinacumab in Subjects With High and Severe Hypertriglyceridemia 由 Zahid Ahmad, Robert Pordy, Daniel J. Rader, Daniel Gaudet, Shazia Ali, Claudia Gonzaga‐Jauregui, Manish P. Ponda, Brad Shumel, Poulabi Banerjee, Richard L. Dunbar

    出版 2021
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  6. 6
    High-Resolution Copy-Number Variation Map Reflects Human Olfactory Receptor Diversity and Evolution

    High-Resolution Copy-Number Variation Map Reflects Human Olfactory Receptor Diversity and Evolution 由 Yehudit Hasin-Brumshtein, Tsviya Olender, Miriam Khen, Claudia Gonzaga‐Jauregui, Philip M. Kim, Alexander E. Urban, M Snyder, Mark Gerstein, Doron Lancet, Jan O. Korbel

    出版 2008
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  7. 7
    Addressing the challenges of polygenic scores in human genetic research

    Addressing the challenges of polygenic scores in human genetic research 由 John Novembre, Catherine M. Stein, Samira Asgari, Claudia Gonzaga‐Jauregui, Andrew P. Landstrom, Amy A. Lemke, Jun Li, Chloe Mighton, Matthew R. Taylor, Sarah A. Tishkoff

    出版 2022
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  8. 8
    Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

    Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy 由 James R. Lupski, Claudia Gonzaga‐Jauregui, Yaping Yang, Matthew N. Bainbridge, Shalini N. Jhangiani, Christian Buhay, Christie Kovar, Min Wang, Alicia Hawes, Jeffrey G. Reid, Christine M. Eng, Donna M. Muzny, Richard A. Gibbs

    出版 2013
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  9. 9
    NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold

    NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold 由 Philip H. Iffland, Mariah E. Everett, Katherine Cobb-Pitstick, Lauren E. Bowser, Allan E. Barnes, Janice K. Babus, Andrea J. Romanowski, Marianna Baybis, Soad Elziny, Erik G. Puffenberger, Claudia Gonzaga‐Jauregui, Alexandros Poulopoulos, Vincent J. Carson, Peter B. Crino

    出版 2022
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  10. 10
    Whole-Genome Sequencing for Optimized Patient Management

    Whole-Genome Sequencing for Optimized Patient Management 由 Matthew N. Bainbridge, Wojciech Wiszniewski, David R. Murdock, Jennifer Friedman, Claudia Gonzaga‐Jauregui, Irene Newsham, Jeffrey G. Reid, John K. Fink, Margaret Morgan, Marie‐Claude Gingras, Donna M. Muzny, Linh D. Hoang, Shahed Yousaf, James R. Lupski, Richard A. Gibbs

    出版 2011
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  11. 11
    Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension

    Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension 由 Na Zhu, Michael W. Pauciulo, Carrie L. Welch, Katie A. Lutz, Anna W. Coleman, Claudia Gonzaga‐Jauregui, Jiayao Wang, Joseph M. Grimes, Lisa J. Martin, Hua He, Pah Biobank Enrolling Centers’ Investigators, Yufeng Shen, Wendy K. Chung, William C. Nichols

    出版 2019
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  12. 12
    Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial

    Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial 由 Robert S. Rosenson, Daniel Gaudet, Christie M. Ballantyne, Seth J. Baum, Jean Bergeron, Erin E. Kershaw, Patrick M. Moriarty, Paolo Rubba, David C. Whitcomb, Poulabi Banerjee, Andrew Gewitz, Claudia Gonzaga‐Jauregui, Jennifer McGinniss, Manish P. Ponda, Robert Pordy, Jian Zhao, Daniel J. Rader

    出版 2023
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  13. 13
    Mutations in<i>VRK1</i>Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly

    Mutations in<i>VRK1</i>Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly 由 Claudia Gonzaga‐Jauregui, Timothy Lotze, Leila Jamal, Samantha Penney, Ian M. Campbell, Davut Pehli̇van, Jill V. Hunter, Suzanne L. Woodbury, Gerald V. Raymond, Adekunle M. Adesina, Shalini N. Jhangiani, Jeffrey G. Reid, Donna M. Muzny, Eric Boerwinkle, James R. Lupski, Richard A. Gibbs, Wojciech Wiszniewski

    出版 2013
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  14. 14
    Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease

    Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease 由 Julie Horowitz, Neil Warner, Jeffrey Staples, Eileen Crowley, Nehal Gosalia, Ryan Murchie, Cristopher V. Van Hout, Karoline Fiedler, Gabriel Welch, Alejandra King, Jeffrey G. Reid, John D. Overton, Aris Baras, Alan R. Shuldiner, Anne M. Griffiths, Omri Gottesman, Aleixo M. Muise, Claudia Gonzaga‐Jauregui

    出版 2021
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  15. 15
    Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort

    Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort 由 Claudia Gonzaga‐Jauregui, Wenzhen Ge, Jeffrey Staples, Cristopher V. Van Hout, Ashish Yadav, Ryan Colonie, Joseph B. Leader, H. Lester Kirchner, Michael F. Murray, Jeffrey G. Reid, David J. Carey, John D. Overton, Alan R. Shuldiner, Omri Gottesman, Steve Gao, Jesper Gromada, Aris Baras, Judith Y. Altarejos

    出版 2019
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  16. 16
    Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

    Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability 由 Feng Zhang, Pavel Seeman, Pengfei Liu, Marian A. J. Weterman, Claudia Gonzaga‐Jauregui, Charles F. Towne, Sat Dev Batish, Els De Vriendt, Peter De Jonghe, Bernd Rautenstrauß, Klaus-Henning Krause, Mehrdad Khajavi, Jan Posadka, Antoon Vandenberghe, Francesc Palau, Lionel Van Maldergem, Frank Baas, Vincent Timmerman, James R. Lupski

    出版 2010
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  17. 17
    Recurrent DNA inversion rearrangements in the human genome

    Recurrent DNA inversion rearrangements in the human genome 由 Margarita Flores, Lucía Morales, Claudia Gonzaga‐Jauregui, Rocío Domínguez-Vidaña, Cinthya Zepeda, Omar Yáñez, M. Cristina Gutiérrez, Tzitziki Lemus, David Valle‐García, Ma. Carmen Avila, Daniel Blanco-Melo, Sofía Medina-Ruiz, Karla Meza, Erandi Ayala, Delfino García, Patricia Bustos, Víctor González, Lourdes Girard, Teresa Tusié‐Luna, Guillermo Dávila, Rafael Palacios

    出版 2007
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  18. 18
    Addressing underrepresentation in genomics research through community engagement

    Addressing underrepresentation in genomics research through community engagement 由 Amy A. Lemke, Edward D. Esplin, Aaron J. Goldenberg, Claudia Gonzaga‐Jauregui, Neil A. Hanchard, Julie Harris-Wai, Justin E. Ideozu, Rosario Isasi, Andrew P. Landstrom, Anya E. R. Prince, Erin Turbitt, Maya Sabatello, Samantha A. Schrier Vergano, Matthew R.G. Taylor, Joon‐Ho Yu, Kyle B. Brothers, Nanibaa’ A. Garrison

    出版 2022
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  19. 19
    De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

    De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures 由 Susanne Horn, Margaret Au, Lina Basel‐Vanagaite, Pınar Bayrak‐Toydemir, Alexander Chapin, Lior Cohen, Mariet W. Elting, John M. Graham, Claudia Gonzaga‐Jauregui, Osnat Konen, Max Holzer, Johannes R. Lemke, Christine E. Miller, Linda K. Rey, Nicole I. Wolf, Marjan M. Weiss, Quinten Waisfisz, Ghayda Mirzaa, Dagmar Wieczorek, Heinrich Sticht, Rami Abou Jamra

    出版 2019
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  20. 20
    Genomic diagnostics within a medically underserved population: efficacy and implications

    Genomic diagnostics within a medically underserved population: efficacy and implications 由 Kevin A. Strauss, Claudia Gonzaga‐Jauregui, Karlla W. Brigatti, Katie B. Williams, Alejandra King, Cristopher V. Van Hout, Donna L. Robinson, Millie Young, Kavita Praveen, Adam D. Heaps, Mindy Kuebler, Aris Baras, Jeffrey G. Reid, John D. Overton, Frederick E. Dewey, Robert N. Jinks, Ian Finnegan, Scott Mellis, Alan R. Shuldiner, Erik G. Puffenberger

    出版 2017
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