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    Wyświetlanie 1-16 z 16
    Tytuł:
    Perspectives of Rare Disease Social Media Group Participants on Engaging With Genetic Counselors: Mixed Methods Study.
    Autorzy:
    Yabumoto M; Department of Genetics, Stanford University School of Medicine, Stanford, CA, United States.
    Miller E; Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, CA, United States.
    Rao A; Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, CA, United States.
    Tabor HK; Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, CA, United States.; Department of Medicine, Stanford University School of Medicine, Stanford, CA, United States.
    Ormond KE; Department of Genetics, Stanford University School of Medicine, Stanford, CA, United States.; Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, CA, United States.; Health Ethics and Policy Lab, Department of Health Sciences and Technology, Swiss Federal Institute of Technology (Eidgenössische Technische Hochschule Zurich), Zurich, Switzerland.
    Halley MC; Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, CA, United States.
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    Źródło:
    Journal of medical Internet research [J Med Internet Res] 2022 Dec 21; Vol. 24 (12), pp. e42084. Date of Electronic Publication: 2022 Dec 21.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Counselors*
    Social Media*
    Humans ; Rare Diseases ; Genetic Counseling/methods ; Genetic Counseling/psychology ; Family
    Czasopismo naukowe
    Pełny tekstSzczegóły
    Tytuł:
    Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.
    Autorzy:
    Porter KM; Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, Washington.
    Kauffman TL; Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon.
    Koenig BA; Institute for Health and Aging, University of California, San Francisco, California.
    Lewis KL; Medical Genomics and Metabolic Genetics Branch of the National Human Genome Research Institute, Bethesda, Maryland.
    Rehm HL; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Partners Personalized Medicine, Boston, Massachusetts.; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
    Richards CS; Knight Diagnostic Laboratories and Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon.
    Strande NT; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
    Tabor HK; Stanford Center for Biomedical Ethics, Palo Alto, California.
    Wolf SM; University of Minnesota Law School, Medical School and Consortium on Law and Values in Health, Environment & the Life Sciences, Minneapolis, Minnesota.
    Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
    Amendola LM; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington.
    Azzariti DR; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
    Berg JS; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
    Bergstrom K; Texas Children's Cancer Center and the Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas.
    Biesecker LG; Medical Genomics and Metabolic Genetics Branch of the National Human Genome Research Institute, Bethesda, Maryland.
    Biswas S; Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    Bowling KM; Hudson Alpha Institute for Biotechnology, Huntsville, Alabama.
    Chung WK; Department of Pediatrics, Columbia University, New York, New York.; Department of Medicine, Columbia University Medical Center, New York, New York.
    Clayton EW; Center for Biomedical Ethics and Society, Vanderbilt University Medical Center, Nashville, Tennessee.
    Conlin LK; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    Cooper GM; Hudson Alpha Institute for Biotechnology, Huntsville, Alabama.
    Dulik MC; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    Garraway LA; Eli Lilly and Company, Indianapolis, Indiana.
    Ghazani AA; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Department of Medical Oncology and Center for Cancer Precision Medicine, Dana-Farber Cancer Institute, Boston, Massachusetts.; Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
    Green RC; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Partners Personalized Medicine, Boston, Massachusetts.; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
    Hiatt SM; Hudson Alpha Institute for Biotechnology, Huntsville, Alabama.
    Jamal SM; Department of Molecular Genetics, University of Toronto, Toronto, Ontario.
    Jarvik GP; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington.; Department of Genome Sciences, University of Washington, Seattle, Washington.
    Goddard KAB; Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon.
    Wilfond BS; Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, Washington.; Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington.
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    Corporate Authors:
    members of the CSER Actionability and Return of Results Working Group
    Źródło:
    Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2018 Nov; Vol. 6 (6), pp. 898-909. Date of Electronic Publication: 2018 Aug 21.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
    MeSH Terms:
    Disclosure*
    Genetic Carrier Screening/*methods
    Genetic Counseling/*methods
    Facilities and Services Utilization ; Genetic Carrier Screening/statistics & numerical data ; Genetic Counseling/statistics & numerical data ; Humans ; Translational Research, Biomedical/methods ; Whole Genome Sequencing/methods
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Correction: Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.
    Autorzy:
    Emond MJ
    Louie T
    Emerson J
    Chong JX
    Mathias RA
    Knowles MR
    Rieder MJ
    Tabor HK
    Nickerson DA
    Barnes KC
    Go L
    Gibson RL
    Bamshad MJ
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    Corporate Authors:
    NHLBI GO Exome Sequencing Project
    Źródło:
    PLoS genetics [PLoS Genet] 2015 Aug 18; Vol. 11 (8), pp. e1005424. Date of Electronic Publication: 2015 Aug 18 (Print Publication: 2015).
    Typ publikacji:
    Published Erratum
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.
    Autorzy:
    Emond MJ; Department of Biostatistics, University of Washington, Seattle, Washington, United States of America.
    Louie T; Department of Biostatistics, University of Washington, Seattle, Washington, United States of America.
    Emerson J; Department of Pediatrics, University of Washington, Seattle, Washington, United States of America; Center for Clinical and Translational Medicine, Seattle Children's Research Institute Seattle, Washington, United States of America.
    Chong JX; Department of Pediatrics, University of Washington, Seattle, Washington, United States of America.
    Mathias RA; Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, Maryland, United States of America.
    Knowles MR; Cystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America.
    Rieder MJ; Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, Maryland, United States of America.
    Tabor HK; Department of Pediatrics, University of Washington, Seattle, Washington, United States of America; Trueman-Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, Washington, United States of America.
    Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, Washington, United States of America.
    Barnes KC; Department of Genome Sciences, University of Washington, Seattle, Washington, United States of America.
    Go L; Department of Biostatistics, University of Washington, Seattle, Washington, United States of America.
    Gibson RL; Department of Pediatrics, University of Washington, Seattle, Washington, United States of America; Division of Pulmonary Medicine, Seattle Children's Hospital, Seattle, Washington, United States of America.
    Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, Washington, United States of America; Department of Genome Sciences, University of Washington, Seattle, Washington, United States of America; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, United States of America.
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    Corporate Authors:
    NHLBI GO Exome Sequencing Project
    Źródło:
    PLoS genetics [PLoS Genet] 2015 Jun 05; Vol. 11 (6), pp. e1005273. Date of Electronic Publication: 2015 Jun 05 (Print Publication: 2015).
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Exome*
    Genes, Modifier*
    Phenotype*
    Caveolin 2/*genetics
    Cystic Fibrosis/*microbiology
    Membrane Proteins/*genetics
    Pseudomonas Infections/*genetics
    Adolescent ; Child ; Child, Preschool ; Cystic Fibrosis/complications ; Cystic Fibrosis/diagnosis ; Female ; Humans ; Male ; Polymorphism, Genetic ; Pseudomonas Infections/complications ; Pseudomonas Infections/diagnosis ; Pseudomonas aeruginosa
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.
    Autorzy:
    Emond MJ; Department of Biostatistics, University of Washington, Seattle, Washington, USA. />Louie T
    Emerson J
    Zhao W
    Mathias RA
    Knowles MR
    Wright FA
    Rieder MJ
    Tabor HK
    Nickerson DA
    Barnes KC
    Gibson RL
    Bamshad MJ
    Pokaż więcej
    Corporate Authors:
    National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project
    Lung GO
    Źródło:
    Nature genetics [Nat Genet] 2012 Jul 08; Vol. 44 (8), pp. 886-9. Date of Electronic Publication: 2012 Jul 08.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Pseudomonas aeruginosa*
    Cystic Fibrosis/*complications
    Cystic Fibrosis/*genetics
    Microtubule-Associated Proteins/*genetics
    Pseudomonas Infections/*etiology
    Pseudomonas Infections/*genetics
    Adolescent ; Age of Onset ; Child ; Child, Preschool ; Dynactin Complex ; Exome ; Gene Frequency ; Humans ; Infant ; Infant, Newborn ; Linkage Disequilibrium ; Phenotype ; Polymorphism, Single Nucleotide
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Exome sequencing as a tool for Mendelian disease gene discovery.
    Autorzy:
    Bamshad MJ; Department of Pediatrics, University of Washington, Health Sciences Building RR349, 1959 NE Pacific Street, Seattle, Washington 98195-6320, USA. />Ng SB
    Bigham AW
    Tabor HK
    Emond MJ
    Nickerson DA
    Shendure J
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    Źródło:
    Nature reviews. Genetics [Nat Rev Genet] 2011 Sep 27; Vol. 12 (11), pp. 745-55. Date of Electronic Publication: 2011 Sep 27.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Review
    MeSH Terms:
    Genome, Human*
    Exome/*genetics
    Sequence Analysis, DNA/*methods
    Alleles ; Base Sequence ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Molecular Sequence Data ; Pedigree ; Phenotype
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
    Autorzy:
    Ng SB; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
    Bigham AW
    Buckingham KJ
    Hannibal MC
    McMillin MJ
    Gildersleeve HI
    Beck AE
    Tabor HK
    Cooper GM
    Mefford HC
    Lee C
    Turner EH
    Smith JD
    Rieder MJ
    Yoshiura K
    Matsumoto N
    Ohta T
    Niikawa N
    Nickerson DA
    Bamshad MJ
    Shendure J
    Pokaż więcej
    Źródło:
    Nature genetics [Nat Genet] 2010 Sep; Vol. 42 (9), pp. 790-3. Date of Electronic Publication: 2010 Aug 15.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mutation*/physiology
    Abnormalities, Multiple/*genetics
    DNA-Binding Proteins/*genetics
    Neoplasm Proteins/*genetics
    Sequence Analysis, DNA/*methods
    Gene Frequency ; Genetic Linkage ; Genetic Predisposition to Disease ; Humans ; Polymorphism, Single Nucleotide ; Syndrome ; Validation Studies as Topic
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Exome sequencing identifies the cause of a mendelian disorder.
    Autorzy:
    Ng SB; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
    Buckingham KJ
    Lee C
    Bigham AW
    Tabor HK
    Dent KM
    Huff CD
    Shannon PT
    Jabs EW
    Nickerson DA
    Shendure J
    Bamshad MJ
    Pokaż więcej
    Źródło:
    Nature genetics [Nat Genet] 2010 Jan; Vol. 42 (1), pp. 30-5. Date of Electronic Publication: 2009 Nov 13.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Abnormalities, Multiple/*genetics
    Exons/*genetics
    Oxidoreductases Acting on CH-CH Group Donors/*genetics
    Sequence Analysis, DNA/*methods
    Abnormalities, Multiple/pathology ; Amino Acid Sequence ; Dihydroorotate Dehydrogenase ; Family Health ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Mandibulofacial Dysostosis/pathology ; Molecular Sequence Data ; Mutation ; Open Reading Frames/genetics ; Sequence Homology, Amino Acid ; Syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Challenges in the use of direct-to-consumer personal genome testing in children.
    Autorzy:
    Tabor HK; University of Washington School of Medicine and Treuman Katz Center for Pediatric Bioethics, Seattle Children's Hospital, Seattle, WA 98101, USA. holly.tabor@seattlechildrens.org
    Kelley M
    Pokaż więcej
    Źródło:
    The American journal of bioethics : AJOB [Am J Bioeth] 2009; Vol. 9 (6-7), pp. 32-4.
    Typ publikacji:
    Journal Article; Comment
    MeSH Terms:
    Child*
    Consumer Health Information*/ethics
    Genetic Privacy*
    Genetic Testing*
    Heterozygote*
    Marketing of Health Services*/ethics
    Social Support*
    Access to Information/ethics ; Adolescent ; Child, Preschool ; Community Participation ; Genome, Human ; Humans ; Internet ; United States
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.
    Autorzy:
    McGowan KA; Department of Genetics, Division of Radiation and CancerBiology, Stanford University, Stanford, California 94305, USA.
    Li JZ
    Park CY
    Beaudry V
    Tabor HK
    Sabnis AJ
    Zhang W
    Fuchs H
    de Angelis MH
    Myers RM
    Attardi LD
    Barsh GS
    Pokaż więcej
    Źródło:
    Nature genetics [Nat Genet] 2008 Aug; Vol. 40 (8), pp. 963-70. Date of Electronic Publication: 2008 Jul 20.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Skin Pigmentation*
    Ribosomal Proteins/*genetics
    Tumor Suppressor Protein p53/*metabolism
    Animals ; Epidermal Cells ; Epidermis/metabolism ; Erythrocytes/metabolism ; Humans ; Keratinocytes/metabolism ; Melanocytes/metabolism ; Mice ; Mutation ; Ribosomal Protein S6/genetics ; Ribosomal Protein S6/metabolism ; Ribosomal Proteins/metabolism ; Stem Cell Factor/metabolism
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-16 z 16

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