共 12 条
[1]
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome
[J].
Adler, Arnon
;
Novelli, Valeria
;
Amin, Ahmad S.
;
Abiusi, Emanuela
;
Care, Melanie
;
Nannenberg, Eline A.
;
Feilotter, Harriet
;
Amenta, Simona
;
Mazza, Daniela
;
Bikker, Hennie
;
Sturm, Amy C.
;
Garcia, John
;
Ackerman, Michael J.
;
Hershberger, Raymond E.
;
Perez, Marco V.
;
Zareba, Wojciech
;
Ware, James S.
;
Wilde, Arthur A. M.
;
Gollob, Michael H.
.
CIRCULATION,
2020, 141 (06)
:418-428

Adler, Arnon
论文数: 0 引用数: 0
h-index: 0
机构:
Toronto Gen Hosp, Div Cardiol, Toronto, ON, Canada
Univ Toronto, Toronto, ON, Canada Toronto Gen Hosp, Div Cardiol, Toronto, ON, Canada

Novelli, Valeria
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Ric & Cura Carattere Sci, Fdn Policlin Univ A Gemelli, Rome, Italy
Univ Cattolica Sacro Cuore, Ist Med Genom, Rome, Italy Toronto Gen Hosp, Div Cardiol, Toronto, ON, Canada

Amin, Ahmad S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Amsterdam Cardiovasc Sci, Dept Clin & Expt Cardiol, Ctr Heart,Med Ctr, Amsterdam, Netherlands Toronto Gen Hosp, Div Cardiol, Toronto, ON, Canada

Abiusi, Emanuela
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Ric & Cura Carattere Sci, Fdn Policlin Univ A Gemelli, Rome, Italy
Univ Cattolica Sacro Cuore, Ist Med Genom, Rome, Italy Toronto Gen Hosp, Div Cardiol, Toronto, ON, Canada

论文数: 引用数:
h-index:
机构:

Nannenberg, Eline A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands Toronto Gen Hosp, Div Cardiol, Toronto, ON, Canada

Feilotter, Harriet
论文数: 0 引用数: 0
h-index: 0
机构:
Queens Univ, Dept Pathol & Mol Med, Kingston, ON, Canada Toronto Gen Hosp, Div Cardiol, Toronto, ON, Canada

Amenta, Simona
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Ric & Cura Carattere Sci, Fdn Policlin Univ A Gemelli, Rome, Italy
Univ Cattolica Sacro Cuore, Ist Med Genom, Rome, Italy Toronto Gen Hosp, Div Cardiol, Toronto, ON, Canada

Mazza, Daniela
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Ric & Cura Carattere Sci, Fdn Policlin Univ A Gemelli, Rome, Italy
Univ Cattolica Sacro Cuore, Ist Med Genom, Rome, Italy Toronto Gen Hosp, Div Cardiol, Toronto, ON, Canada

Bikker, Hennie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands Toronto Gen Hosp, Div Cardiol, Toronto, ON, Canada

Sturm, Amy C.
论文数: 0 引用数: 0
h-index: 0
机构:
Geisinger Genom Med Inst, Danville, PA USA Toronto Gen Hosp, Div Cardiol, Toronto, ON, Canada

Garcia, John
论文数: 0 引用数: 0
h-index: 0
机构:
Invitae Corp, San Francisco, CA USA Toronto Gen Hosp, Div Cardiol, Toronto, ON, Canada

Ackerman, Michael J.
论文数: 0 引用数: 0
h-index: 0
机构:
Windland Smith Rice Sudden Death Genom Lab, Dept Cardiovasc Dis, Div Heart Rhythm Serv, Rochester, MN USA
Windland Smith Rice Sudden Death Genom Lab, Dept Pediat, Div Heart Rhythm Serv, Rochester, MN USA
Windland Smith Rice Sudden Death Genom Lab, Dept Mol Pharmacol & Expt Therapeut, Div Heart Rhythm Serv, Rochester, MN USA
Windland Smith Rice Sudden Death Genom Lab, Dept Cardiovasc Dis, Div Pediat Cardiol, Rochester, MN USA
Windland Smith Rice Sudden Death Genom Lab, Dept Pediat, Div Pediat Cardiol, Rochester, MN USA
Windland Smith Rice Sudden Death Genom Lab, Dept Mol Pharmacol, Div Pediat Cardiol, Rochester, MN USA Toronto Gen Hosp, Div Cardiol, Toronto, ON, Canada

Hershberger, Raymond E.
论文数: 0 引用数: 0
h-index: 0
机构:
Ohio State Univ, Dept Internal Med, Div Human Genet, Columbus, OH 43210 USA
Ohio State Univ, Dept Internal Med, Div Cardiovasc Med, Columbus, OH 43210 USA Toronto Gen Hosp, Div Cardiol, Toronto, ON, Canada

Perez, Marco V.
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Dept Med, Div Cardiovasc Med, Stanford, CA 94305 USA Toronto Gen Hosp, Div Cardiol, Toronto, ON, Canada

Zareba, Wojciech
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Rochester, Med Ctr, Dept Med, Cardiol Unit, Rochester, NY 14627 USA Toronto Gen Hosp, Div Cardiol, Toronto, ON, Canada

Ware, James S.
论文数: 0 引用数: 0
h-index: 0
机构:
Imperial Coll London, Natl Heart & Lung Inst, London, England
Imperial Coll London, Med Res Council, Inst Med Sci, London, England
Royal Brompton & Harefield Hosp Natl Hlth Serv Tr, London, England Toronto Gen Hosp, Div Cardiol, Toronto, ON, Canada

Wilde, Arthur A. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Amsterdam Cardiovasc Sci, Dept Clin & Expt Cardiol, Ctr Heart,Med Ctr, Amsterdam, Netherlands
Columbia Univ, Irving Med Ctr, New York, NY USA Toronto Gen Hosp, Div Cardiol, Toronto, ON, Canada

Gollob, Michael H.
论文数: 0 引用数: 0
h-index: 0
机构:
Toronto Gen Hosp, Div Cardiol, Toronto, ON, Canada
Univ Toronto, Toronto, ON, Canada
Univ Toronto, Dept Physiol, Toronto, ON, Canada
Univ Toronto, Toronto Gen Hosp, Univ Hlth Network, Res Inst, Toronto, ON, Canada Toronto Gen Hosp, Div Cardiol, Toronto, ON, Canada
[2]
Al-Khatib SM, 2018, CIRCULATION, V138, pE210, DOI [10.1161/CIR.0000000000000548, 10.1161/CIR.0000000000000549]
[3]
Cardiovascular Genetics and Genomics Group, TIT VAR DIL CARD
[4]
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
[J].
Green, Robert C.
;
Berg, Jonathan S.
;
Grody, Wayne W.
;
Kalia, Sarah S.
;
Korf, Bruce R.
;
Martin, Christa L.
;
McGuire, Amy L.
;
Nussbaum, Robert L.
;
O'Daniel, Julianne M.
;
Ormond, Kelly E.
;
Rehm, Heidi L.
;
Watson, Michael S.
;
Williams, Marc S.
;
Biesecker, Leslie G.
.
GENETICS IN MEDICINE,
2013, 15 (07)
:565-574

Green, Robert C.
论文数: 0 引用数: 0
h-index: 0
机构:
Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA
Harvard Univ, Sch Med, Boston, MA USA
Partners Healthcare Ctr Personalized Genet Med, Boston, MA USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

Berg, Jonathan S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ N Carolina, Sch Med, Dept Genet, Chapel Hill, NC USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

Grody, Wayne W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, Sch Med, Div Med Genet, Dept Human Genet, Los Angeles, CA USA
Univ Calif Los Angeles, Sch Med, Dept Pathol & Lab Med, Div Mol Pathol, Los Angeles, CA 90024 USA
Univ Calif Los Angeles, Sch Med, Dept Pediat, Div Pediat Genet, Los Angeles, CA 90024 USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

Kalia, Sarah S.
论文数: 0 引用数: 0
h-index: 0
机构:
Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA
Harvard Univ, Sch Med, Boston, MA USA Brigham & Womens Hosp, Dept Med, Div Genet, 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, Dept Med, Div Genet, 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, Danville, PA USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

McGuire, Amy L.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Ctr Med Eth & Hlth Policy, Houston, TX 77030 USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

Nussbaum, Robert L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Dept Med, Div Genom Med, San Francisco, CA USA
Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

O'Daniel, Julianne M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ N Carolina, Sch Med, Dept Genet, Chapel Hill, NC USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

Ormond, Kelly E.
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Dept Genet, Stanford, CA 94305 USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

Rehm, Heidi L.
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Boston, MA USA
Partners Healthcare Ctr Personalized Genet Med, Boston, MA USA
Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

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

Williams, Marc S.
论文数: 0 引用数: 0
h-index: 0
机构:
Geisinger Hlth Syst, Genom Med Inst, Danville, PA USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

Biesecker, Leslie G.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA
[5]
Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline
[J].
Hershberger, Ray E.
;
Givertz, Michael M.
;
Ho, Carolyn Y.
;
Judge, Daniel P.
;
Kantor, Paul F.
;
Mcbride, Kim L.
;
Morales, Ana
;
Taylor, Matthew R. G.
;
Vatta, Matteo
;
Ware, Stephanie M.
.
JOURNAL OF CARDIAC FAILURE,
2018, 24 (05)
:281-302

Hershberger, Ray E.
论文数: 0 引用数: 0
h-index: 0
机构:
Ohio State Univ, Wexner Med Ctr, Div Human Genet, Columbus, OH 43210 USA
Ohio State Univ, Wexner Med Ctr, Div Cardiovasc Med, Columbus, OH 43210 USA Ohio State Univ, Wexner Med Ctr, Div Human Genet, Columbus, OH 43210 USA

Givertz, Michael M.
论文数: 0 引用数: 0
h-index: 0
机构:
Brigham & Womens Hosp, Cardiovasc Div, 75 Francis St, Boston, MA 02115 USA Ohio State Univ, Wexner Med Ctr, Div Human Genet, Columbus, OH 43210 USA

Ho, Carolyn Y.
论文数: 0 引用数: 0
h-index: 0
机构:
Brigham & Womens Hosp, Cardiovasc Div, 75 Francis St, Boston, MA 02115 USA Ohio State Univ, Wexner Med Ctr, Div Human Genet, Columbus, OH 43210 USA

Judge, Daniel P.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ South Carolina, Div Cardiol, Charleston, SC 29425 USA Ohio State Univ, Wexner Med Ctr, Div Human Genet, Columbus, OH 43210 USA

Kantor, Paul F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alberta, Div Pediat Cardiol, Edmonton, AB, Canada
Stollery Childrens Hosp, Edmonton, AB, Canada Ohio State Univ, Wexner Med Ctr, Div Human Genet, Columbus, OH 43210 USA

Mcbride, Kim L.
论文数: 0 引用数: 0
h-index: 0
机构:
Ohio State Univ, Dept Pediat, Columbus, OH 43210 USA
Ohio State Univ, Nationwide Childrens Hosp, Ctr Cardiovasc Res, Columbus, OH 43210 USA Ohio State Univ, Wexner Med Ctr, Div Human Genet, Columbus, OH 43210 USA

Morales, Ana
论文数: 0 引用数: 0
h-index: 0
机构:
Ohio State Univ, Wexner Med Ctr, Div Human Genet, Columbus, OH 43210 USA Ohio State Univ, Wexner Med Ctr, Div Human Genet, Columbus, OH 43210 USA

Taylor, Matthew R. G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Colorado, Adult Med Genet Program, Div Cardiol, Anschutz Med Campus, Aurora, CO USA Ohio State Univ, Wexner Med Ctr, Div Human Genet, Columbus, OH 43210 USA

Vatta, Matteo
论文数: 0 引用数: 0
h-index: 0
机构:
Invitae Corp, San Francisco, CA USA
Indiana Univ, Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46204 USA
Indiana Univ, Sch Med, Dept Med, Indianapolis, IN 46204 USA Ohio State Univ, Wexner Med Ctr, Div Human Genet, Columbus, OH 43210 USA

Ware, Stephanie M.
论文数: 0 引用数: 0
h-index: 0
机构:
Indiana Univ, Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46204 USA
Indiana Univ, Sch Med, Dept Pediat, Indianapolis, IN 46204 USA Ohio State Univ, Wexner Med Ctr, Div Human Genet, Columbus, OH 43210 USA
[6]
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.
;
Adelman, Kathy
;
Bale, Sherri J.
;
Chung, Wendy K.
;
Eng, Christine
;
Evans, James P.
;
Herman, Gail E.
;
Hufnagel, Sophia B.
;
Klein, Teri E.
;
Korf, Bruce R.
;
McKelvey, Kent D.
;
Ormond, Kelly E.
;
Richards, C. Sue
;
Vlangos, Christopher N.
;
Watson, Michael
;
Martin, Christa L.
;
Miller, David T.
.
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
[7]
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
[J].
Miller, David T.
;
Lee, Kristy
;
Abul-Husn, Noura S.
;
Amendla, Laura M.
;
Brothers, Kyle
;
Chung, Wendy K.
;
Gollob, Michael H.
;
Gordon, Adam S.
;
Harrison, Steven M.
;
Hershberger, Ray E.
;
Klein, Teri E.
;
Richards, Carolyn Sue
;
Stewart, Douglas R.
;
Martin, Christa Lese
.
GENETICS IN MEDICINE,
2022, 24 (07)
:1407-1414

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 Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Lee, Kristy
论文数: 0 引用数: 0
h-index: 0
机构:
Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Abul-Husn, Noura S.
论文数: 0 引用数: 0
h-index: 0
机构:
Icahn Sch Med Mt Sinai, Inst Genom Hlth, Dept Med, New York, NY 10029 USA
Icahn Sch Med Mt Sinai, Inst Genom Hlth, Dept Genet & Genom Sci, New York, NY 10029 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Amendla, Laura M.
论文数: 0 引用数: 0
h-index: 0
机构:
Illumina Inc, San Diego, CA USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Brothers, Kyle
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Louisville, Dept Pediat, Louisville, KY 40292 USA Boston Childrens Hosp, Div Genet & Genom, 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 Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Gollob, Michael H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toronto, Dept Physiol, Div Cardiol, Toronto, ON, Canada Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Gordon, Adam S.
论文数: 0 引用数: 0
h-index: 0
机构:
Northwestern Univ, Feinberg Sch Med, Ctr Genet Med, Dept Pharmacol, Chicago, IL 60611 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Harrison, Steven M.
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Hershberger, Ray E.
论文数: 0 引用数: 0
h-index: 0
机构:
Ohio State Univ, Dept Internal Med, Div Human Genet, Columbus, OH 43210 USA
Ohio State Univ, Dept Internal Med, Div Cardiovasc Med, Columbus, OH 43210 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Klein, Teri E.
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Dept Biomed Data Sci, Stanford, CA 94305 USA
Stanford Univ, Dept Med, Stanford, CA 94305 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 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 97201 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Stewart, Douglas R.
论文数: 0 引用数: 0
h-index: 0
机构:
NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, Rockville, MD USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Martin, Christa Lese
论文数: 0 引用数: 0
h-index: 0
机构:
Geisinger, Autism & Dev Med Inst, Danville, PA USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA
[8]
Miller DT, 2021, GENET MED, V23, P1381, DOI 10.1038/s41436-021-01172-3
[9]
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
[J].
Miller, David T.
;
Lee, Kristy
;
Gordon, Adam S.
;
Amendola, Laura M.
;
Adelman, Kathy
;
Bale, Sherri J.
;
Chung, Wendy K.
;
Gollob, Michael H.
;
Harrison, Steven M.
;
Herman, Gail E.
;
Hershberger, Ray E.
;
Klein, Teri E.
;
McKelvey, Kent
;
Richards, C. Sue
;
Vlangos, Christopher N.
;
Stewart, Douglas R.
;
Watson, Michael S.
;
Martin, Christa Lese
.
GENETICS IN MEDICINE,
2021, 23 (08)
:1391-1398

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 Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Lee, Kristy
论文数: 0 引用数: 0
h-index: 0
机构:
Univ N Carolina, Dept Genet, Chapel Hill, NC USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Gordon, Adam S.
论文数: 0 引用数: 0
h-index: 0
机构:
Northwestern Univ, Dept Pharmacol, Chicago, IL 60611 USA
Northwestern Univ, Ctr Genet Med, Chicago, IL USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Amendola, Laura M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Div Med Genet, Seattle, WA 98195 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Adelman, Kathy
论文数: 0 引用数: 0
h-index: 0
机构:
Patient Advocate, Livermore, CA USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Bale, Sherri J.
论文数: 0 引用数: 0
h-index: 0
机构:
Bale Genet Consulting, Chevy Chase, MD USA Boston Childrens Hosp, Div Genet & Genom, 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 Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Gollob, Michael H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toronto, Div Cardiol, Toronto, ON, Canada
Univ Toronto, Dept Physiol, Toronto, ON, Canada Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Harrison, Steven M.
论文数: 0 引用数: 0
h-index: 0
机构:
Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

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

Hershberger, Ray E.
论文数: 0 引用数: 0
h-index: 0
机构:
Ohio State Univ, Div Human Genet, Dept Internal Med, Columbus, OH USA
Ohio State Univ, Div Cardiovasc Med, Dept Internal Med, Columbus, OH USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Klein, Teri E.
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Dept Biomed Data Sci, Stanford, CA USA
Stanford Univ, Dept Med, Stanford, CA 94305 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

McKelvey, Kent
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Arkansas Med Sci, Dept Genet, Little Rock, AR USA
Univ Arkansas Med Sci, Dept Family Med, Little Rock, AR USA Boston Childrens Hosp, Div Genet & Genom, 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 Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Vlangos, Christopher N.
论文数: 0 引用数: 0
h-index: 0
机构:
Tempus Labs Inc, Chicago, IL USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Stewart, Douglas R.
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h-index: 0
机构:
NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, Rockville, MD USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Watson, Michael S.
论文数: 0 引用数: 0
h-index: 0
机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

Martin, Christa Lese
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h-index: 0
机构:
Geisinger, Autism & Dev Med Inst, Danville, PA USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA
[10]
Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
[J].
Natera-de Benito, Daniel
;
Sola, Abel
;
Rego Sousa, Paulo
;
Boronat, Susana
;
Exposito-Escudero, Jessica
;
Carrera-Garcia, Laura
;
Ortez, Carlos
;
Jou, Cristina
;
Muchart, Jordi
;
Rebollo, Monica
;
Armstrong, Judith
;
Colomer, Jaume
;
Garcia-Cazorla, Angels
;
Hoenicka, Janet
;
Palau, Francesc
;
Nascimento, Andres
.
PEDIATRIC NEUROLOGY,
2021, 119
:40-44

Natera-de Benito, Daniel
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain
Inst Recerca St Joan de Deu, Barcelona, Spain Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain

Sola, Abel
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Recerca St Joan de Deu, Lab Neurogenet & Mol Med IPER, Barcelona, Spain Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain

Rego Sousa, Paulo
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain
Inst Recerca St Joan de Deu, Barcelona, Spain
Hosp Cent Funchal, Dept Pediat, Pediat Neurol Unit, Funchal, Portugal Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain

Boronat, Susana
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Santa Creu & Sant Pau, Dept Pediat, Barcelona, Spain Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain

Exposito-Escudero, Jessica
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain
Inst Recerca St Joan de Deu, Barcelona, Spain Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain

Carrera-Garcia, Laura
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain
Inst Recerca St Joan de Deu, Barcelona, Spain Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain

Ortez, Carlos
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain
Inst Recerca St Joan de Deu, Barcelona, Spain Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain

Jou, Cristina
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain
Inst Recerca St Joan de Deu, Barcelona, Spain
Hosp St Joan de Deu, Dept Pathol, Barcelona, Spain
ISCIII, Ctr Biomed Res Network Rare Dis CIBERER, Madrid, Spain Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain

Muchart, Jordi
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp St Joan de Deu, Dept Radiol, Barcelona, Spain Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain

Rebollo, Monica
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp St Joan de Deu, Dept Radiol, Barcelona, Spain Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain

Armstrong, Judith
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain
Inst Recerca St Joan de Deu, Barcelona, Spain
ISCIII, Ctr Biomed Res Network Rare Dis CIBERER, Madrid, Spain
Hosp St Joan de Deu, Dept Genet & Mol Med IPER, Barcelona, Spain Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain

Colomer, Jaume
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain
Inst Recerca St Joan de Deu, Barcelona, Spain Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain

Garcia-Cazorla, Angels
论文数: 0 引用数: 0
h-index: 0
机构:
ISCIII, Ctr Biomed Res Network Rare Dis CIBERER, Madrid, Spain
Hosp St Joan de Deu, Dept Pediat Neurol, Barcelona, Spain Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain

Hoenicka, Janet
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Recerca St Joan de Deu, Lab Neurogenet & Mol Med IPER, Barcelona, Spain
ISCIII, Ctr Biomed Res Network Rare Dis CIBERER, Madrid, Spain Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain

Palau, Francesc
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Recerca St Joan de Deu, Lab Neurogenet & Mol Med IPER, Barcelona, Spain
ISCIII, Ctr Biomed Res Network Rare Dis CIBERER, Madrid, Spain
Hosp St Joan de Deu, Dept Genet & Mol Med IPER, Barcelona, Spain
Univ Barcelona, Sch Med & Hlth Sci, Clin Inst Med & Dermatol, Hosp Clin, Barcelona, Spain
Univ Barcelona, Sch Med & Hlth Sci, Div Pediat, Barcelona, Spain Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain

Nascimento, Andres
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain
Inst Recerca St Joan de Deu, Barcelona, Spain
ISCIII, Ctr Biomed Res Network Rare Dis CIBERER, Madrid, Spain Hosp St Joan de Deu, Neuromuscular Unit, Dept Pediat Neurol, Barcelona, Spain