Hasil Pencarian - Michael J. Bamshad

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  1. 1
    Centering Equity in Human Genetics and Genomics Advances

    Centering Equity in Human Genetics and Genomics Advances oleh Jennifer K. Wagner, Joon-Ho Yu, Jessica X. Chong, Charmaine D. Royal, Michael J. Bamshad

    Diterbitkan 2021-10-01
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  2. 2
    Guidelines for genetic ancestry inference created through roundtable discussions

    Guidelines for genetic ancestry inference created through roundtable discussions oleh Jennifer K. Wagner, Joon-Ho Yu, Duana Fullwiley, CeCe Moore, James F. Wilson, Michael J. Bamshad, Charmaine D. Royal

    Diterbitkan 2023-04-01
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  3. 3
    Human <i>SMAD4</i> Genomic Variants Identified in Individuals with Heritable and Early-Onset Thoracic Aortic Disease

    Human <i>SMAD4</i> Genomic Variants Identified in Individuals with Heritable and Early-Onset Thoracic Aortic Disease oleh Shreyas A. Bhave, Dongchuan Guo, Stoyan N. Angelov, Michael J. Bamshad, Deborah A. Nickerson, Dianna M. Milewicz, Mary C. Wallingford

    Diterbitkan 2021-08-01
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  4. 4
    Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases

    Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases oleh Javier A Muntadas, Martin R Hyland, Maria Del Rosario Ortolá Martínez, Jaime N Young, Jessica X Chong, Michael J Bamshad, Ricardo A. Maselli

    Diterbitkan 2024-08-01
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  5. 5
    Correction to: Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares

    Correction to: Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares oleh Alice S. Chau, Bonnie L. Cole, Jason S. Debley, Kabita Nanda, Aaron B. I. Rosen, Michael J. Bamshad, Deborah A. Nickerson, Troy R. Torgerson, Eric J. Allenspach

    Diterbitkan 2022-03-01
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  6. 6
    Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares

    Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares oleh Alice S. Chau, Bonnie L. Cole, Jason S. Debley, Kabita Nanda, Aaron B. I. Rosen, Michael J. Bamshad, Deborah A. Nickerson, Troy R. Torgerson, Eric J. Allenspach

    Diterbitkan 2020-10-01
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  7. 7
    Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

    Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment oleh Isabelle Schrauwen, Imen Chakchouk, Anushree Acharya, Khurram Liaqat, Irfanullah, University of Washington Center for Mendelian Genomics, Deborah A. Nickerson, Michael J. Bamshad, Khadim Shah, Wasim Ahmad, Suzanne M. Leal

    Diterbitkan 2018-07-01
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  8. 8
    8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer

    8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer oleh William D. Dupont, Joan P. Breyer, W. Dale Plummer, Sam S. Chang, Michael S. Cookson, Joseph A. Smith, University of Washington Center for Mendelian Genomics, Elizabeth E. Blue, Michael J. Bamshad, Jeffrey R. Smith

    Diterbitkan 2020-03-01
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  9. 9
    PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation

    PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation oleh Brittany T. Truong, Lomeli C. Shull, Ezra Lencer, Eric G. Bend, Michael Field, Elizabeth E. Blue, Michael J. Bamshad, Cindy Skinner, David Everman, Charles E. Schwartz, Heather Flanagan-Steet, Kristin B. Artinger

    Diterbitkan 2023-04-01
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  10. 10
    Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease

    Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease oleh Fadi I. Musfee, Dongchuan Guo, Amélie C. Pinard, Ellen M. Hostetler, Elizabeth E. Blue, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics (UW‐CMG), Michael J. Bamshad, Dianna M. Milewicz, Siddharth K. Prakash

    Diterbitkan 2020-10-01
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  11. 11
    Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia

    Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia oleh Aki Ushiki, Yichi Zhang, Chenling Xiong, Jingjing Zhao, Ilias Georgakopoulos-Soares, Lauren Kane, Kirsty Jamieson, Michael J. Bamshad, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics, Yin Shen, Laura A. Lettice, Elizabeth Lemos Silveira-Lucas, Florence Petit, Nadav Ahituv

    Diterbitkan 2021-04-01
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  12. 12
    Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.

    Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis. oleh Mary J Emond, Tin Louie, Julia Emerson, Jessica X Chong, Rasika A Mathias, Michael R Knowles, Mark J Rieder, Holly K Tabor, Debbie A Nickerson, Kathleen C Barnes, NHLBI GO Exome Sequencing Project, Lung Go, Ronald L Gibson, Michael J Bamshad

    Diterbitkan 2015-06-01
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  13. 13
    Correction: Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.

    Correction: Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis. oleh Mary J Emond, Tin Louie, Julia Emerson, Jessica X Chong, Rasika A Mathias, Michael R Knowles, Mark J Rieder, Holly K Tabor, Debbie A Nickerson, Kathleen C Barnes, NHLBI GO Exome Sequencing Project, Lung Go, Ronald L Gibson, Michael J Bamshad

    Diterbitkan 2015-08-01
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  14. 14
    Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta

    Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta oleh Thao T. Tran, Rachel B. Keller, Brecht Guillemyn, Melanie Pepin, Jane E. Corteville, Samir Khatib, Mohammad-Sadegh Fallah, Sirous Zeinali, Fransiska Malfait, Sofie Symoens, Paul Coucke, Peter Witters, Elena Levtchenko, Hamideh Bagherian, Deborah A. Nickerson, Michael J. Bamshad, Jessica X. Chong, Peter H. Byers

    Diterbitkan 2021-10-01
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  15. 15
    Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

    Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects oleh Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin, Anthony J. Marcello, Hernan Gonorazky, Lili-Naz Hazrati, James J. Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Á Marín Gabriel, Arthur S. Aylsworth, Kati J. Buckingham, Kathryn M. Shively, Olivia Sommers, Kailyn Anderson, Michael Regnier, Michael J. Bamshad

    Diterbitkan 2023-07-01
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  16. 16
    Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.

    Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1. oleh Romel D Mackelprang, Michael J Bamshad, Jessica X Chong, Xuanlin Hou, Kati J Buckingham, Kathryn Shively, Guy deBruyn, Nelly R Mugo, James I Mullins, M Juliana McElrath, Jared M Baeten, Connie Celum, Mary J Emond, Jairam R Lingappa, Partners in Prevention HSV/HIV Transmission Study and the Partners PrEP Study Teams

    Diterbitkan 2019-02-01
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  17. 17
    De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder

    De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder oleh Elizabeth A. Werren, Alba Guxholli, Natasha Jones, Matias Wagner, Iris Hannibal, Jorge L. Granadillo, Amanda V. Tyndall, Amanda Moccia, Ryan Kuehl, Kristin M. Levandoski, Debra L. Day-Salvatore, Marsha Wheeler, Jessica X. Chong, Michael J. Bamshad, A. Micheil Innes, Tyler Mark Pierson, Joel P. Mackay, Stephanie L. Bielas, Donna M. Martin

    Diterbitkan 2023-07-01
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  18. 18
    Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.

    Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1. oleh Romel D Mackelprang, Michael J Bamshad, Jessica X Chong, Xuanlin Hou, Kati J Buckingham, Kathryn Shively, Guy deBruyn, Nelly R Mugo, James I Mullins, M Juliana McElrath, Jared M Baeten, Connie Celum, Mary J Emond, Jairam R Lingappa, Partners in Prevention HSV/HIV Transmission Study and the Partners PrEP Study Teams

    Diterbitkan 2017-11-01
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  19. 19
    3-hour genome sequencing and targeted analysis to rapidly assess genetic risk

    3-hour genome sequencing and targeted analysis to rapidly assess genetic risk oleh Miranda P.G. Zalusky, Jonas A. Gustafson, Stephanie C. Bohaczuk, Ben Mallory, Paxton Reed, Tara Wenger, Erika Beckman, Irene J. Chang, Cate R. Paschal, Jillian G. Buchan, Christina M. Lockwood, Mihai Puia-Dumitrescu, Daniel R. Garalde, Joseph Guillory, Androo J. Markham, Michael J. Bamshad, Evan E. Eichler, Andrew B. Stergachis, Danny E. Miller

    Diterbitkan 2024-01-01
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  20. 20
    Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

    Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling oleh Michaela Bosakova, Sara P Abraham, Alexandru Nita, Eva Hruba, Marcela Buchtova, S Paige Taylor, Ivan Duran, Jorge Martin, Katerina Svozilova, Tomas Barta, Miroslav Varecha, Lukas Balek, Jiri Kohoutek, Tomasz Radaszkiewicz, Ganesh V Pusapati, Vitezslav Bryja, Eric T Rush, Isabelle Thiffault, Deborah A Nickerson, Michael J Bamshad, University of Washington Center for Mendelian Genomics, Rajat Rohatgi, Daniel H Cohn, Deborah Krakow, Pavel Krejci

    Diterbitkan 2020-11-01
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