Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
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| Title: | Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network. |
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| Authors: | Gallego CJ; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA; Pharmaceutical Outcomes Research and Policy Program, Department of Pharmacy, University of Washington, Seattle, WA 98195, USA. Electronic address: cgallego@med.umich.edu., Burt A; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Sundaresan AS; Center for Health Research, Geisinger Health System, Danville, PA 17822, USA., Ye Z; Division of Cardiovascular Diseases, Department of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA., Shaw C; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Crosslin DR; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Crane PK; Division of General Internal Medicine, Department of Medicine, University of Washington, Seattle, WA 98104, USA., Fullerton SM; Department of Bioethics and Humanities, University of Washington, Seattle, WA 98195, USA., Hansen K; Group Health Research Institute, Group Health Cooperative, Seattle, WA 98101, USA., Carrell D; Group Health Research Institute, Group Health Cooperative, Seattle, WA 98101, USA., Kuivaniemi H; Siegfried and Janet Weis Center for Research, Geisinger Health System, Danville, PA 17822, USA., Derr K; Siegfried and Janet Weis Center for Research, Geisinger Health System, Danville, PA 17822, USA., de Andrade M; Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA., McCarty CA; Research Division, Essentia Institute of Rural Health, Duluth, MN 55805, USA., Kitchner TE; Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI 54449, USA., Ragon BK; Division of Cancer Medicine, MD Anderson Cancer Center, Houston, TX 77030, USA., Stallings SC; Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University School of Medicine, Nashville, TN 37203, USA., Papa G; Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University School of Medicine, Nashville, TN 37203, USA., Bochenek J; Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA., Smith ME; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Aufox SA; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Pacheco JA; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Patel V; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Friesema EM; Division of General Internal Medicine and Geriatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Erwin AL; Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Gottesman O; Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Gerhard GS; Department of Medical Genetics and Molecular Biochemistry, Temple University School of Medicine, Philadelphia, PA 19140, USA., Ritchie M; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., Motulsky AG; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Kullo IJ; Division of Cardiovascular Diseases, Department of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA., Larson EB; Group Health Research Institute, Group Health Cooperative, Seattle, WA 98101, USA., Tromp G; Siegfried and Janet Weis Center for Research, Geisinger Health System, Danville, PA 17822, USA., Brilliant MH; Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI 54449, USA., Bottinger E; Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Denny JC; Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA; Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA., Roden DM; Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA; Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, TN 37232, USA., Williams MS; Genomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA., Jarvik GP; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address: gjarvik@medicine.washington.edu. |
| Source: | American journal of human genetics [Am J Hum Genet] 2015 Oct 01; Vol. 97 (4), pp. 512-20. Date of Electronic Publication: 2015 Sep 10. |
| Publication Type: | Comparative Study; Journal Article; Multicenter Study; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 26365338 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Gallego+CJ%22">Gallego CJ</searchLink>; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA; Pharmaceutical Outcomes Research and Policy Program, Department of Pharmacy, University of Washington, Seattle, WA 98195, USA. Electronic address: cgallego@med.umich.edu.<br /><searchLink fieldCode="AU" term="%22Burt+A%22">Burt A</searchLink>; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Sundaresan+AS%22">Sundaresan AS</searchLink>; Center for Health Research, Geisinger Health System, Danville, PA 17822, USA.<br /><searchLink fieldCode="AU" term="%22Ye+Z%22">Ye Z</searchLink>; Division of Cardiovascular Diseases, Department of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA.<br /><searchLink fieldCode="AU" term="%22Shaw+C%22">Shaw C</searchLink>; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Crosslin+DR%22">Crosslin DR</searchLink>; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Crane+PK%22">Crane PK</searchLink>; Division of General Internal Medicine, Department of Medicine, University of Washington, Seattle, WA 98104, USA.<br /><searchLink fieldCode="AU" term="%22Fullerton+SM%22">Fullerton SM</searchLink>; Department of Bioethics and Humanities, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Hansen+K%22">Hansen K</searchLink>; Group Health Research Institute, Group Health Cooperative, Seattle, WA 98101, USA.<br /><searchLink fieldCode="AU" term="%22Carrell+D%22">Carrell D</searchLink>; Group Health Research Institute, Group Health Cooperative, Seattle, WA 98101, USA.<br /><searchLink fieldCode="AU" term="%22Kuivaniemi+H%22">Kuivaniemi H</searchLink>; Siegfried and Janet Weis Center for Research, Geisinger Health System, Danville, PA 17822, USA.<br /><searchLink fieldCode="AU" term="%22Derr+K%22">Derr K</searchLink>; Siegfried and Janet Weis Center for Research, Geisinger Health System, Danville, PA 17822, USA.<br /><searchLink fieldCode="AU" term="%22de+Andrade+M%22">de Andrade M</searchLink>; Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.<br /><searchLink fieldCode="AU" term="%22McCarty+CA%22">McCarty CA</searchLink>; Research Division, Essentia Institute of Rural Health, Duluth, MN 55805, USA.<br /><searchLink fieldCode="AU" term="%22Kitchner+TE%22">Kitchner TE</searchLink>; Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI 54449, USA.<br /><searchLink fieldCode="AU" term="%22Ragon+BK%22">Ragon BK</searchLink>; Division of Cancer Medicine, MD Anderson Cancer Center, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Stallings+SC%22">Stallings SC</searchLink>; Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University School of Medicine, Nashville, TN 37203, USA.<br /><searchLink fieldCode="AU" term="%22Papa+G%22">Papa G</searchLink>; Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University School of Medicine, Nashville, TN 37203, USA.<br /><searchLink fieldCode="AU" term="%22Bochenek+J%22">Bochenek J</searchLink>; Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.<br /><searchLink fieldCode="AU" term="%22Smith+ME%22">Smith ME</searchLink>; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.<br /><searchLink fieldCode="AU" term="%22Aufox+SA%22">Aufox SA</searchLink>; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.<br /><searchLink fieldCode="AU" term="%22Pacheco+JA%22">Pacheco JA</searchLink>; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.<br /><searchLink fieldCode="AU" term="%22Patel+V%22">Patel V</searchLink>; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.<br /><searchLink fieldCode="AU" term="%22Friesema+EM%22">Friesema EM</searchLink>; Division of General Internal Medicine and Geriatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.<br /><searchLink fieldCode="AU" term="%22Erwin+AL%22">Erwin AL</searchLink>; Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.<br /><searchLink fieldCode="AU" term="%22Gottesman+O%22">Gottesman O</searchLink>; Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.<br /><searchLink fieldCode="AU" term="%22Gerhard+GS%22">Gerhard GS</searchLink>; Department of Medical Genetics and Molecular Biochemistry, Temple University School of Medicine, Philadelphia, PA 19140, USA.<br /><searchLink fieldCode="AU" term="%22Ritchie+M%22">Ritchie M</searchLink>; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.<br /><searchLink fieldCode="AU" term="%22Motulsky+AG%22">Motulsky AG</searchLink>; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Kullo+IJ%22">Kullo IJ</searchLink>; Division of Cardiovascular Diseases, Department of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA.<br /><searchLink fieldCode="AU" term="%22Larson+EB%22">Larson EB</searchLink>; Group Health Research Institute, Group Health Cooperative, Seattle, WA 98101, USA.<br /><searchLink fieldCode="AU" term="%22Tromp+G%22">Tromp G</searchLink>; Siegfried and Janet Weis Center for Research, Geisinger Health System, Danville, PA 17822, USA.<br /><searchLink fieldCode="AU" term="%22Brilliant+MH%22">Brilliant MH</searchLink>; Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI 54449, USA.<br /><searchLink fieldCode="AU" term="%22Bottinger+E%22">Bottinger E</searchLink>; Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.<br /><searchLink fieldCode="AU" term="%22Denny+JC%22">Denny JC</searchLink>; Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA; Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.<br /><searchLink fieldCode="AU" term="%22Roden+DM%22">Roden DM</searchLink>; Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA; Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.<br /><searchLink fieldCode="AU" term="%22Williams+MS%22">Williams MS</searchLink>; Genomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA.<br /><searchLink fieldCode="AU" term="%22Jarvik+GP%22">Jarvik GP</searchLink>; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address: gjarvik@medicine.washington.edu. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2015 Oct 01; Vol. 97 (4), pp. 512-20. <i>Date of Electronic Publication: </i>2015 Sep 10. – Name: TypePub Label: Publication Type Group: TypPub Data: Comparative Study; Journal Article; Multicenter Study; Research Support, N.I.H., Extramural – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1537-6605 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.ajhg.2015.08.008 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 512 Titles: – TitleFull: Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Gallego CJ – PersonEntity: Name: NameFull: Burt A – PersonEntity: Name: NameFull: Sundaresan AS – PersonEntity: Name: NameFull: Ye Z – PersonEntity: Name: NameFull: Shaw C – PersonEntity: Name: NameFull: Crosslin DR – PersonEntity: Name: NameFull: Crane PK – PersonEntity: Name: NameFull: Fullerton SM – PersonEntity: Name: NameFull: Hansen K – PersonEntity: Name: NameFull: Carrell D – PersonEntity: Name: NameFull: Kuivaniemi H – PersonEntity: Name: NameFull: Derr K – PersonEntity: Name: NameFull: de Andrade M – PersonEntity: Name: NameFull: McCarty CA – PersonEntity: Name: NameFull: Kitchner TE – PersonEntity: Name: NameFull: Ragon BK – PersonEntity: Name: NameFull: Stallings SC – PersonEntity: Name: NameFull: Papa G – PersonEntity: Name: NameFull: Bochenek J – PersonEntity: Name: NameFull: Smith ME – PersonEntity: Name: NameFull: Aufox SA – PersonEntity: Name: NameFull: Pacheco JA – PersonEntity: Name: NameFull: Patel V – PersonEntity: Name: NameFull: Friesema EM – PersonEntity: Name: NameFull: Erwin AL – PersonEntity: Name: NameFull: Gottesman O – PersonEntity: Name: NameFull: Gerhard GS – PersonEntity: Name: NameFull: Ritchie M – PersonEntity: Name: NameFull: Motulsky AG – PersonEntity: Name: NameFull: Kullo IJ – PersonEntity: Name: NameFull: Larson EB – PersonEntity: Name: NameFull: Tromp G – PersonEntity: Name: NameFull: Brilliant MH – PersonEntity: Name: NameFull: Bottinger E – PersonEntity: Name: NameFull: Denny JC – PersonEntity: Name: NameFull: Roden DM – PersonEntity: Name: NameFull: Williams MS – PersonEntity: Name: NameFull: Jarvik GP IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 10 Text: 2015 Oct 01 Type: published Y: 2015 Identifiers: – Type: issn-electronic Value: 1537-6605 Numbering: – Type: volume Value: 97 – Type: issue Value: 4 Titles: – TitleFull: American journal of human genetics Type: main |
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