共 8 条
[1]
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
[J].
Amendola, Laura M.
;
Jarvik, Gail P.
;
Leo, Michael C.
;
McLaughlin, Heather M.
;
Akkari, Yassmine
;
Amaral, Michelle D.
;
Berg, Jonathan S.
;
Biswas, Sawona
;
Bowling, Kevin M.
;
Conlin, Laura K.
;
Cooper, Greg M.
;
Dorschner, Michael O.
;
Dulik, Matthew C.
;
Ghazani, Arezou A.
;
Ghosh, Rajarshi
;
Green, Robert C.
;
Hart, Ragan
;
Horton, Carrie
;
Johnston, Jennifer J.
;
Lebo, Matthew S.
;
Milosavljevic, Aleksandar
;
Ou, Jeffrey
;
Pak, Christine M.
;
Patel, Ronak Y.
;
Punj, Sumit
;
Richards, Carolyn Sue
;
Salama, Joseph
;
Strande, Natasha T.
;
Yang, Yaping
;
Plon, Sharon E.
;
Biesecker, Leslie G.
;
Rehm, Heidi L.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2016, 98 (06)
:1067-1076

Amendola, Laura M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Jarvik, Gail P.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Leo, Michael C.
论文数: 0 引用数: 0
h-index: 0
机构:
Kaiser Permanente, Ctr Hlth Res, Portland, OR 97227 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

McLaughlin, Heather M.
论文数: 0 引用数: 0
h-index: 0
机构:
Partners HealthCare Personalized Med, Mol Med Lab, Cambridge, MA 02139 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Akkari, Yassmine
论文数: 0 引用数: 0
h-index: 0
机构:
Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97239 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Amaral, Michelle D.
论文数: 0 引用数: 0
h-index: 0
机构:
HudsonAlpha Inst Biotechnol, Huntsville, AL 35806 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Berg, Jonathan S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Biswas, Sawona
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Bowling, Kevin M.
论文数: 0 引用数: 0
h-index: 0
机构:
HudsonAlpha Inst Biotechnol, Huntsville, AL 35806 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Conlin, Laura K.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Cooper, Greg M.
论文数: 0 引用数: 0
h-index: 0
机构:
HudsonAlpha Inst Biotechnol, Huntsville, AL 35806 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Dorschner, Michael O.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pathol, Ctr Precis Diagnost, Seattle, WA 98195 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Dulik, Matthew C.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Dept Pathol & LaboratoryMedicine, Philadelphia, PA 19104 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Ghazani, Arezou A.
论文数: 0 引用数: 0
h-index: 0
机构:
Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02215 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Ghosh, Rajarshi
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Houston, TX 77030 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Green, Robert C.
论文数: 0 引用数: 0
h-index: 0
机构:
Partners HealthCare Personalized Med, Mol Med Lab, Cambridge, MA 02139 USA
Brigham & Womens Hosp, Cambridge, MA 02115 USA
Harvard Univ, Sch Med, Cambridge, MA 02115 USA
Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

论文数: 引用数:
h-index:
机构:

Horton, Carrie
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Clin Diagnost, Aliso Viejo, CA 92656 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Johnston, Jennifer J.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Intramural Res Program, NIH, Bethesda, MD 20892 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Lebo, Matthew S.
论文数: 0 引用数: 0
h-index: 0
机构:
Partners HealthCare Personalized Med, Mol Med Lab, Cambridge, MA 02139 USA
Brigham & Womens Hosp, Cambridge, MA 02115 USA
Harvard Univ, Sch Med, Cambridge, MA 02115 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Milosavljevic, Aleksandar
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Houston, TX 77030 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Ou, Jeffrey
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Pak, Christine M.
论文数: 0 引用数: 0
h-index: 0
机构:
Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97239 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Patel, Ronak Y.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Houston, TX 77030 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Punj, Sumit
论文数: 0 引用数: 0
h-index: 0
机构:
Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97239 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Richards, Carolyn Sue
论文数: 0 引用数: 0
h-index: 0
机构:
Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97239 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Salama, Joseph
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Strande, Natasha T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Yang, Yaping
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Houston, TX 77030 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Plon, Sharon E.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Houston, TX 77030 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Biesecker, Leslie G.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Intramural Res Program, NIH, Bethesda, MD 20892 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

Rehm, Heidi L.
论文数: 0 引用数: 0
h-index: 0
机构:
Partners HealthCare Personalized Med, Mol Med Lab, Cambridge, MA 02139 USA
Brigham & Womens Hosp, Cambridge, MA 02115 USA
Harvard Univ, Sch Med, Cambridge, MA 02115 USA
Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA
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Managing the ethical challenges of next-generation sequencing in genomic medicine
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Clarke, Angus J.
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BRITISH MEDICAL BULLETIN,
2014, 111 (01)
:17-30

Clarke, Angus J.
论文数: 0 引用数: 0
h-index: 0
机构:
Cardiff Univ, Sch Med, Inst Canc & Genet, Cardiff CF14 4XW, S Glam, Wales Cardiff Univ, Sch Med, Inst Canc & Genet, Cardiff CF14 4XW, S Glam, Wales
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HIPAA's Individual Right of Access to Genomic Data: Reconciling Safety and Civil Rights
[J].
Evans, Barbara J.
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AMERICAN JOURNAL OF HUMAN GENETICS,
2018, 102 (01)
:5-10

Evans, Barbara J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Houston, Law Ctr, Houston, TX 77204 USA
Univ Houston, Dept Elect & Comp Engn, Houston, TX 77204 USA Univ Houston, Law Ctr, Houston, TX 77204 USA
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Hirschhorn K, 1999, Genet Med, V1, P171
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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
[J].
Kalia, Sarah S.
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Adelman, Kathy
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Bale, Sherri J.
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Chung, Wendy K.
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Eng, Christine
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Evans, James P.
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Herman, Gail E.
;
Hufnagel, Sophia B.
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Klein, Teri E.
;
Korf, Bruce R.
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McKelvey, Kent D.
;
Ormond, Kelly E.
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Richards, C. Sue
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Vlangos, Christopher N.
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Watson, Michael
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Martin, Christa L.
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Miller, David T.
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GENETICS IN MEDICINE,
2017, 19 (02)
:249-255

Kalia, Sarah S.
论文数: 0 引用数: 0
h-index: 0
机构:
Brigham & Womens Hosp, Div Genet, 75 Francis St, Boston, MA 02115 USA Brigham & Womens Hosp, Div Genet, 75 Francis St, Boston, MA 02115 USA

Adelman, Kathy
论文数: 0 引用数: 0
h-index: 0
机构: Brigham & Womens Hosp, Div Genet, 75 Francis St, Boston, MA 02115 USA

Bale, Sherri J.
论文数: 0 引用数: 0
h-index: 0
机构:
GeneDx Inc, Gaithersburg, MD USA Brigham & Womens Hosp, Div Genet, 75 Francis St, Boston, MA 02115 USA

Chung, Wendy K.
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Pediat, New York, NY 10027 USA
Columbia Univ, Dept Med, New York, NY USA Brigham & Womens Hosp, Div Genet, 75 Francis St, Boston, MA 02115 USA

Eng, Christine
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Brigham & Womens Hosp, Div Genet, 75 Francis St, Boston, MA 02115 USA

Evans, James P.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USA Brigham & Womens Hosp, Div Genet, 75 Francis St, Boston, MA 02115 USA

Herman, Gail E.
论文数: 0 引用数: 0
h-index: 0
机构:
Ohio State Univ, Nationwide Childrens Hosp, Inst Genom Med, Columbus, OH 43210 USA
Ohio State Univ, Dept Pediat, Columbus, OH 43210 USA Brigham & Womens Hosp, Div Genet, 75 Francis St, Boston, MA 02115 USA

Hufnagel, Sophia B.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Natl Hlth Syst, Div Genet & Metab, Washington, DC USA Brigham & Womens Hosp, Div Genet, 75 Francis St, Boston, MA 02115 USA

Klein, Teri E.
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Sch Med, Dept Genet, Palo Alto, CA 94304 USA Brigham & Womens Hosp, Div Genet, 75 Francis St, Boston, MA 02115 USA

Korf, Bruce R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alabama Birmingham, Dept Genet, Birmingham, AL USA Brigham & Womens Hosp, Div Genet, 75 Francis St, Boston, MA 02115 USA

McKelvey, Kent D.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Arkansas Med Sci, Dept Genet, Little Rock, AR 72205 USA
Univ Arkansas Med Sci, Dept Family Med, Little Rock, AR 72205 USA Brigham & Womens Hosp, Div Genet, 75 Francis St, Boston, MA 02115 USA

Ormond, Kelly E.
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Sch Med, Dept Genet, Palo Alto, CA 94304 USA Brigham & Womens Hosp, Div Genet, 75 Francis St, Boston, MA 02115 USA

Richards, C. Sue
论文数: 0 引用数: 0
h-index: 0
机构:
Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR USA Brigham & Womens Hosp, Div Genet, 75 Francis St, Boston, MA 02115 USA

Vlangos, Christopher N.
论文数: 0 引用数: 0
h-index: 0
机构:
Virginia Commonwealth Univ, Sch Med, Dept Pathol, Richmond, VA USA Brigham & Womens Hosp, Div Genet, 75 Francis St, Boston, MA 02115 USA

Watson, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Amer Coll Med Genet & Genom, Bethesda, MD USA Brigham & Womens Hosp, Div Genet, 75 Francis St, Boston, MA 02115 USA

Martin, Christa L.
论文数: 0 引用数: 0
h-index: 0
机构:
Geisinger Hlth Syst, Autism & Dev Med Inst, Lewisburg, PA 17837 USA Brigham & Womens Hosp, Div Genet, 75 Francis St, Boston, MA 02115 USA

Miller, David T.
论文数: 0 引用数: 0
h-index: 0
机构:
Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Brigham & Womens Hosp, Div Genet, 75 Francis St, Boston, MA 02115 USA
[6]
Pyeritz RE, 2012, GENET MED, V14, P171, DOI [10.1038/gim.2011.48, 10.1038/gim.2012.74]
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Pyeritz, Reed E.
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NEW ENGLAND JOURNAL OF MEDICINE,
2011, 365 (15)
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Pyeritz, Reed E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Leonard Davis Inst Hlth Econ, Ctr Bioeth, Ctr Integrat Genet Healthcare Technol, Philadelphia, PA 19104 USA
Univ Penn, Dept Med, Philadelphia, PA 19104 USA
Univ Penn, Dept Genet, Philadelphia, PA 19104 USA Univ Penn, Leonard Davis Inst Hlth Econ, Ctr Bioeth, Ctr Integrat Genet Healthcare Technol, Philadelphia, PA 19104 USA
[8]
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
[J].
Richards, Sue
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Aziz, Nazneen
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Bale, Sherri
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Bick, David
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Das, Soma
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Gastier-Foster, Julie
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Grody, Wayne W.
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Hegde, Madhuri
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Lyon, Elaine
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Spector, Elaine
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Voelkerding, Karl
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Rehm, Heidi L.
.
GENETICS IN MEDICINE,
2015, 17 (05)
:405-424

Richards, Sue
论文数: 0 引用数: 0
h-index: 0
机构:
Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Aziz, Nazneen
论文数: 0 引用数: 0
h-index: 0
机构:
Coll Amer Pathologists, Chicago, IL USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Bale, Sherri
论文数: 0 引用数: 0
h-index: 0
机构:
GeneDx, Gaithersburg, MD USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Bick, David
论文数: 0 引用数: 0
h-index: 0
机构:
Med Coll Wisconsin, Dept Pediat, Genet Sect, Milwaukee, WI 53226 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Das, Soma
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Clin Mol Genet Lab, Dept Human Genet, Chicago, IL 60637 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Gastier-Foster, Julie
论文数: 0 引用数: 0
h-index: 0
机构:
Nationwide Childrens Hosp, Cytogenet Mol Genet Lab, Columbus, OH USA
Ohio State Univ, Coll Med, Dept Pathol, Columbus, OH 43210 USA
Ohio State Univ, Coll Med, Dept Pediat, Columbus, OH 43210 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Grody, Wayne W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90024 USA
Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90024 USA
Univ Calif Los Angeles, Sch Med, Dept Human Genet, Los Angeles, CA USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Hegde, Madhuri
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Emory Genet Lab, Dept Human Genet, Atlanta, GA 30322 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Lyon, Elaine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Dept Pathol, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Spector, Elaine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Colorado, Anschutz Med Sch, Childrens Hosp Colorado, Dept Pediat,Mol Genet Lab, Denver, CO 80202 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Voelkerding, Karl
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Dept Pathol, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Rehm, Heidi L.
论文数: 0 引用数: 0
h-index: 0
机构:
Brigham & Womens Hosp, Partners Lab Mol Med, Boston, MA 02115 USA
Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA
Harvard Univ, Sch Med, Boston, MA USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA