共 12 条
[1]
Biesecker LG, 2014, NEW ENGL J MED, V370, P2418, DOI [10.1056/NEJMra1312543, 10.1056/NEJMc1408914]
[2]
Rare-disease genetics in the era of next-generation sequencing: discovery to translation
[J].
Boycott, Kym M.
;
Vanstone, Megan R.
;
Bulman, Dennis E.
;
MacKenzie, Alex E.
.
NATURE REVIEWS GENETICS,
2013, 14 (10)
:681-691

Boycott, Kym M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Ottawa, Dept Pediat, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Dept Pediat, Ottawa, ON K1H 8L1, Canada

Vanstone, Megan R.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Ottawa, Dept Pediat, Ottawa, ON K1H 8L1, Canada

Bulman, Dennis E.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Ottawa, Dept Pediat, Ottawa, ON K1H 8L1, Canada

MacKenzie, Alex E.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Ottawa, Dept Pediat, Ottawa, ON K1H 8L1, Canada
[3]
The $1,000 genome
[J].
Hayden, Erika Check
.
NATURE,
2014, 507 (7492)
:294-295

Hayden, Erika Check
论文数: 0 引用数: 0
h-index: 0
[4]
The Benefits of Whole-Genome Sequencing Now and in the Future
[J].
Khromykh, Alina
;
Solomon, Benjamin D.
.
MOLECULAR SYNDROMOLOGY,
2015, 6 (03)
:108-109

Khromykh, Alina
论文数: 0 引用数: 0
h-index: 0
机构:
Inova Translat Med Inst, Div Med Genom, Falls Church, VA USA Inova Translat Med Inst, Div Med Genom, Falls Church, VA USA

Solomon, Benjamin D.
论文数: 0 引用数: 0
h-index: 0
机构:
Inova Translat Med Inst, Div Med Genom, Falls Church, VA USA
Inova Childrens Hosp, Inova Hlth Syst, Falls Church, VA USA
Virginia Commonwealth Univ, Sch Med, Dept Pediat, Richmond, VA USA Inova Translat Med Inst, Div Med Genom, Falls Church, VA USA
[5]
Guidelines for investigating causality of sequence variants in human disease
[J].
MacArthur, D. G.
;
Manolio, T. A.
;
Dimmock, D. P.
;
Rehm, H. L.
;
Shendure, J.
;
Abecasis, G. R.
;
Adams, D. R.
;
Altman, R. B.
;
Antonarakis, S. E.
;
Ashley, E. A.
;
Barrett, J. C.
;
Biesecker, L. G.
;
Conrad, D. F.
;
Cooper, G. M.
;
Cox, N. J.
;
Daly, M. J.
;
Gerstein, M. B.
;
Goldstein, D. B.
;
Hirschhorn, J. N.
;
Leal, S. M.
;
Pennacchio, L. A.
;
Stamatoyannopoulos, J. A.
;
Sunyaev, S. R.
;
Valle, D.
;
Voight, B. F.
;
Winckler, W.
;
Gunter, C.
.
NATURE,
2014, 508 (7497)
:469-476

MacArthur, D. G.
论文数: 0 引用数: 0
h-index: 0
机构:
Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Manolio, T. A.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Div Genom Med, Bethesda, MD 20892 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Dimmock, D. P.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Coll Wisconsin, Dept Pediat, Div Genet, Milwaukee, WI 53226 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Rehm, H. L.
论文数: 0 引用数: 0
h-index: 0
机构:
Partners Healthcare Ctr Personalized Genet Med, Mol Med Lab, Cambridge, MA 02139 USA
Harvard Univ, Sch Med, Dept Pathol, Boston, MA 02115 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Shendure, J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98115 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Abecasis, G. R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Michigan, Dept Biostat, Ann Arbor, MI 48109 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Adams, D. R.
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, NIH Undiagnosed Dis Program, Off Rare Dis Res, Bethesda, MD 20892 USA
NHGRI, Bethesda, MD 20892 USA
NHGRI, Off Clin Director, NIH, Bethesda, MD 20892 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Altman, R. B.
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Dept Bioengn, Stanford, CA 94305 USA
Stanford Univ, Dept Genet, Stanford, CA 94305 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Antonarakis, S. E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Sch Med, Dept Med Genet, CH-1211 Geneva, Switzerland
iGE3 Inst Genet & Genom Geneva, CH-1211 Geneva, Switzerland Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Ashley, E. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Sch Med, Ctr Inherited Cardiovasc Dis, Stanford, CA 94305 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Barrett, J. C.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1HH, England Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Biesecker, L. G.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Conrad, D. F.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA
Washington Univ, Sch Med, Dept Pathol, St Louis, MO 63110 USA
Washington Univ, Sch Med, Dept Immunol, St Louis, MO 63110 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Cooper, G. M.
论文数: 0 引用数: 0
h-index: 0
机构:
HudsonAlpha Inst Biotechnol, Huntsville, AL 35806 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Cox, N. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Dept Med, Med Genet Sect, Chicago, IL 60637 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Daly, M. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Gerstein, M. B.
论文数: 0 引用数: 0
h-index: 0
机构:
Yale Univ, Program Computat Biol & Bioinformat, New Haven, CT 06520 USA
Yale Univ, Dept Comp Sci, New Haven, CT 06520 USA
Yale Univ, Dept Mol Biophys, New Haven, CT 06520 USA
Yale Univ, Dept Biochem, New Haven, CT 06520 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Goldstein, D. B.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Hirschhorn, J. N.
论文数: 0 引用数: 0
h-index: 0
机构:
Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA 02142 USA
Childrens Hosp, Div Genet, Boston, MA 02115 USA
Childrens Hosp, Div Endocrinol, Boston, MA 02115 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Leal, S. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Pennacchio, L. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Berkeley, Lawrence Berkeley Natl Lab, Genom Div, Berkeley, CA 94720 USA
US DOE, Joint Genome Inst, Walnut Creek, CA 94598 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Stamatoyannopoulos, J. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Sunyaev, S. R.
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 02115 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Valle, D.
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Voight, B. F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Perelman Sch Med, Dept Pharmacol, Philadelphia, PA 19104 USA
Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Winckler, W.
论文数: 0 引用数: 0
h-index: 0
机构:
Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

Gunter, C.
论文数: 0 引用数: 0
h-index: 0
机构:
HudsonAlpha Inst Biotechnol, Huntsville, AL 35806 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
[6]
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
[J].
Soden, Sarah E.
;
Saunders, Carol J.
;
Willig, Laurel K.
;
Farrow, Emily G.
;
Smith, Laurie D.
;
Petrikin, Josh E.
;
LePichon, Jean-Baptiste
;
Miller, Neil A.
;
Thiffault, Isabelle
;
Dinwiddie, Darrell L.
;
Twist, Greyson
;
Noll, Aaron
;
Heese, Bryce A.
;
Zellmer, Lee
;
Atherton, Andrea M.
;
Abdelmoity, Ahmed T.
;
Safina, Nicole
;
Nyp, Sarah S.
;
Zuccarelli, Britton
;
Larson, Ingrid A.
;
Modrcin, Ann
;
Herd, Suzanne
;
Creed, Mitchell
;
Ye, Zhaohui
;
Yuan, Xuan
;
Brodsky, Robert A.
;
Kingsmore, Stephen F.
.
SCIENCE TRANSLATIONAL MEDICINE,
2014, 6 (265)

Soden, Sarah E.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Saunders, Carol J.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pathol, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Willig, Laurel K.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Farrow, Emily G.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pathol, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Smith, Laurie D.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Petrikin, Josh E.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

LePichon, Jean-Baptiste
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Miller, Neil A.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Thiffault, Isabelle
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pathol, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Dinwiddie, Darrell L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ New Mexico, Dept Pediat, Hlth Sci Ctr, Albuquerque, NM 87131 USA
Univ New Mexico, Clin & Translat Sci Ctr, Hlth Sci Ctr, Albuquerque, NM 87131 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Twist, Greyson
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Noll, Aaron
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Heese, Bryce A.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Zellmer, Lee
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pathol, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Atherton, Andrea M.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Abdelmoity, Ahmed T.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Safina, Nicole
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Nyp, Sarah S.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Zuccarelli, Britton
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Larson, Ingrid A.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Modrcin, Ann
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Herd, Suzanne
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Creed, Mitchell
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Ye, Zhaohui
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Dept Med, Baltimore, MD 21205 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Yuan, Xuan
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Dept Med, Baltimore, MD 21205 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Brodsky, Robert A.
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Dept Med, Baltimore, MD 21205 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Kingsmore, Stephen F.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pathol, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
[7]
Solomon BD, 2015, MOL SYNDROMOL, V6, P4, DOI [10.1159/000371398, 10.1159/000357929]
[8]
Clinical Genomic Database
[J].
Solomon, Benjamin D.
;
Anh-Dao Nguyen
;
Bear, Kelly A.
;
Wolfsberg, Tyra G.
.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
2013, 110 (24)
:9851-9855

Solomon, Benjamin D.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA

Anh-Dao Nguyen
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Genome Technol Branch, NIH, Bethesda, MD 20892 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA

Bear, Kelly A.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA
Walter Reed Natl Mil Med Ctr, Dept Pediat, Bethesda, MD 20889 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA

Wolfsberg, Tyra G.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Genome Technol Branch, NIH, Bethesda, MD 20892 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA
[9]
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
[J].
Taylor, Jenny C.
;
Martin, Hilary C.
;
Lise, Stefano
;
Broxholme, John
;
Cazier, Jean-Baptiste
;
Rimmer, Andy
;
Kanapin, Alexander
;
Lunter, Gerton
;
Fiddy, Simon
;
Allan, Chris
;
Aricescu, A. Radu
;
Attar, Moustafa
;
Babbs, Christian
;
Becq, Jennifer
;
Beeson, David
;
Bento, Celeste
;
Bignell, Patricia
;
Blair, Edward
;
Buckle, Veronica J.
;
Bull, Katherine
;
Cais, Ondrej
;
Cario, Holger
;
Chapel, Helen
;
Copley, Richard R.
;
Cornall, Richard
;
Craft, Jude
;
Dahan, Karin
;
Davenport, Emma E.
;
Dendrou, Calliope
;
Devuyst, Olivier
;
Fenwick, Aimee L.
;
Flint, Jonathan
;
Fugger, Lars
;
Gilbert, Rodney D.
;
Goriely, Anne
;
Green, Angie
;
Greger, Ingo H.
;
Grocock, Russell
;
Gruszczyk, Anja V.
;
Hastings, Robert
;
Hatton, Edouard
;
Higgs, Doug
;
Hill, Adrian
;
Holmes, Chris
;
Howard, Malcolm
;
Hughes, Linda
;
Humburg, Peter
;
Johnson, David
;
Karpe, Fredrik
;
Kingsbury, Zoya
.
NATURE GENETICS,
2015, 47 (07)
:717-+

Taylor, Jenny C.
论文数: 0 引用数: 0
h-index: 0
机构:
Comprehens Biomed Res Ctr, NIHR, Oxford, England
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Martin, Hilary C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Lise, Stefano
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Broxholme, John
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Cazier, Jean-Baptiste
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Birmingham, Ctr Computat Biol, Edgbaston, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Rimmer, Andy
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Kanapin, Alexander
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Lunter, Gerton
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Fiddy, Simon
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Allan, Chris
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Aricescu, A. Radu
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Attar, Moustafa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Babbs, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Weatherall Inst Mol Med, Mol Haematol Unit, MRC, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Becq, Jennifer
论文数: 0 引用数: 0
h-index: 0
机构:
Illumina Cambridge Ltd, Saffron Walden, Essex, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

论文数: 引用数:
h-index:
机构:

Bento, Celeste
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp, Dept Hematol, Coimbra, Portugal
Univ Coimbra, Coimbra, Portugal Comprehens Biomed Res Ctr, NIHR, Oxford, England

Bignell, Patricia
论文数: 0 引用数: 0
h-index: 0
机构:
Oxford Univ Hosp, Natl Hlth Serv, Mol Haematol Dept, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Blair, Edward
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Hosp NHS Trust, Dept Clin Genet, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Buckle, Veronica J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Weatherall Inst Mol Med, Mol Haematol Unit, MRC, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

论文数: 引用数:
h-index:
机构:

Cais, Ondrej
论文数: 0 引用数: 0
h-index: 0
机构:
MRC, Mol Biol Lab, Div Neurobiol, Cambridge CB2 2QH, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Cario, Holger
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr, Dept Pediat & Adolescent Med, Ulm, Germany Comprehens Biomed Res Ctr, NIHR, Oxford, England

Chapel, Helen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Nuffield Dept Med, Primary Immunodeficiency Unit, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Copley, Richard R.
论文数: 0 引用数: 0
h-index: 0
机构:
Comprehens Biomed Res Ctr, NIHR, Oxford, England
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Cornall, Richard
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Ctr Cellular & Mol Physiol, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Craft, Jude
论文数: 0 引用数: 0
h-index: 0
机构:
Comprehens Biomed Res Ctr, NIHR, Oxford, England
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Dahan, Karin
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Genet Humaine, Inst Genet & Pathol, Gosselies, Belgium
Catholic Univ Louvain, Clin Univ St Luc, B-1200 Brussels, Belgium Comprehens Biomed Res Ctr, NIHR, Oxford, England

Davenport, Emma E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Dendrou, Calliope
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, MRC, Weatherall Inst Mol Med, Human Immunol Unit, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Devuyst, Olivier
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, MRC, Weatherall Inst Mol Med, Human Immunol Unit, Oxford, England
Univ Zurich, Inst Physiol, Zurich Ctr Integrat Human Physiol, Zurich, Switzerland Comprehens Biomed Res Ctr, NIHR, Oxford, England

Fenwick, Aimee L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Weatherall Inst Mol Med, Clin Genet Grp, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Flint, Jonathan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Fugger, Lars
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, MRC, Weatherall Inst Mol Med, Human Immunol Unit, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Gilbert, Rodney D.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Southampton, Southampton Univ Hosp, NHS Fdn Trust, Southampton, Hants, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Goriely, Anne
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Weatherall Inst Mol Med, Clin Genet Grp, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Green, Angie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Greger, Ingo H.
论文数: 0 引用数: 0
h-index: 0
机构:
MRC, Mol Biol Lab, Div Neurobiol, Cambridge CB2 2QH, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Grocock, Russell
论文数: 0 引用数: 0
h-index: 0
机构:
Illumina Cambridge Ltd, Saffron Walden, Essex, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Gruszczyk, Anja V.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Weatherall Inst Mol Med, Clin Genet Grp, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Hastings, Robert
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Radcliffe Dept Med, Div Cardiovasc Med, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Hatton, Edouard
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Higgs, Doug
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Weatherall Inst Mol Med, Mol Haematol Unit, MRC, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Hill, Adrian
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England
Univ Oxford, Nuffield Dept Med, Jenner Inst, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Holmes, Chris
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England
Univ Oxford, Dept Stat, Oxford OX1 3TG, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Howard, Malcolm
论文数: 0 引用数: 0
h-index: 0
机构:
Comprehens Biomed Res Ctr, NIHR, Oxford, England
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Hughes, Linda
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Humburg, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Johnson, David
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Hosp NHS Trust, Dept Plast & Reconstruct Surg, Craniofacial Unit, Oxford OX1 3TG, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Karpe, Fredrik
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Churchill Hosp, Oxford Ctr Diabet Endocrinol & Metab, Oxford Lab Integrat Physiol, Oxford OX1 3TG, England Comprehens Biomed Res Ctr, NIHR, Oxford, England

Kingsbury, Zoya
论文数: 0 引用数: 0
h-index: 0
机构:
Illumina Cambridge Ltd, Saffron Walden, Essex, England Comprehens Biomed Res Ctr, NIHR, Oxford, England
[10]
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings
[J].
Willig, Laurel K.
;
Petrikin, Josh E.
;
Smith, Laurie D.
;
Saunders, Carol J.
;
Thiffault, Isabelle
;
Miller, Neil A.
;
Soden, Sarah E.
;
Cakici, Julie A.
;
Herd, Suzanne M.
;
Twist, Greyson
;
Noll, Aaron
;
Creed, Mitchell
;
Alba, Patria M.
;
Carpenter, Shannon L.
;
Clements, Mark A.
;
Fischer, Ryan T.
;
Hays, J. Allyson
;
Kilbride, Howard
;
McDonough, Ryan J.
;
Rosterman, Jamie L.
;
Tsai, Sarah L.
;
Zellmer, Lee
;
Farrow, Emily G.
;
Kingsmore, Stephen F.
.
LANCET RESPIRATORY MEDICINE,
2015, 3 (05)
:377-387

Willig, Laurel K.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Petrikin, Josh E.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Smith, Laurie D.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Saunders, Carol J.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pathol, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Thiffault, Isabelle
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pathol, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Miller, Neil A.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Soden, Sarah E.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pathol, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Cakici, Julie A.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Herd, Suzanne M.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Twist, Greyson
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Noll, Aaron
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Creed, Mitchell
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Alba, Patria M.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Carpenter, Shannon L.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Clements, Mark A.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Fischer, Ryan T.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Hays, J. Allyson
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Kilbride, Howard
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

McDonough, Ryan J.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Rosterman, Jamie L.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Tsai, Sarah L.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Zellmer, Lee
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pathol, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Farrow, Emily G.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

Kingsmore, Stephen F.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pediat, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pathol, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA