共 10 条
[1]
Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing
[J].
Bell, Callum J.
;
Dinwiddie, Darrell L.
;
Miller, Neil A.
;
Hateley, Shannon L.
;
Ganusova, Elena E.
;
Mudge, Joann
;
Langley, Ray J.
;
Zhang, Lu
;
Lee, Clarence C.
;
Schilkey, Faye D.
;
Sheth, Vrunda
;
Woodward, Jimmy E.
;
Peckham, Heather E.
;
Schroth, Gary P.
;
Kim, Ryan W.
;
Kingsmore, Stephen F.
.
SCIENCE TRANSLATIONAL MEDICINE,
2011, 3 (65)

Bell, Callum J.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Ctr Genome Resources, Santa Fe, NM 87505 USA Natl Ctr Genome Resources, Santa Fe, NM 87505 USA

Dinwiddie, Darrell L.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Ctr Genome Resources, Santa Fe, NM 87505 USA
Childrens Mercy Hosp, Kansas City, MO 64108 USA Natl Ctr Genome Resources, Santa Fe, NM 87505 USA

Miller, Neil A.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Ctr Genome Resources, Santa Fe, NM 87505 USA
Childrens Mercy Hosp, Kansas City, MO 64108 USA Natl Ctr Genome Resources, Santa Fe, NM 87505 USA

Hateley, Shannon L.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Ctr Genome Resources, Santa Fe, NM 87505 USA Natl Ctr Genome Resources, Santa Fe, NM 87505 USA

Ganusova, Elena E.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Ctr Genome Resources, Santa Fe, NM 87505 USA Natl Ctr Genome Resources, Santa Fe, NM 87505 USA

Mudge, Joann
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Ctr Genome Resources, Santa Fe, NM 87505 USA Natl Ctr Genome Resources, Santa Fe, NM 87505 USA

Langley, Ray J.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Ctr Genome Resources, Santa Fe, NM 87505 USA Natl Ctr Genome Resources, Santa Fe, NM 87505 USA

Zhang, Lu
论文数: 0 引用数: 0
h-index: 0
机构:
Illumina Inc, Hayward, CA 94545 USA Natl Ctr Genome Resources, Santa Fe, NM 87505 USA

Lee, Clarence C.
论文数: 0 引用数: 0
h-index: 0
机构:
Life Technol, Beverly, MA 01915 USA Natl Ctr Genome Resources, Santa Fe, NM 87505 USA

Schilkey, Faye D.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Ctr Genome Resources, Santa Fe, NM 87505 USA Natl Ctr Genome Resources, Santa Fe, NM 87505 USA

Sheth, Vrunda
论文数: 0 引用数: 0
h-index: 0
机构:
Life Technol, Beverly, MA 01915 USA Natl Ctr Genome Resources, Santa Fe, NM 87505 USA

Woodward, Jimmy E.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Ctr Genome Resources, Santa Fe, NM 87505 USA Natl Ctr Genome Resources, Santa Fe, NM 87505 USA

Peckham, Heather E.
论文数: 0 引用数: 0
h-index: 0
机构:
Life Technol, Beverly, MA 01915 USA Natl Ctr Genome Resources, Santa Fe, NM 87505 USA

Schroth, Gary P.
论文数: 0 引用数: 0
h-index: 0
机构:
Illumina Inc, Hayward, CA 94545 USA Natl Ctr Genome Resources, Santa Fe, NM 87505 USA

Kim, Ryan W.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Ctr Genome Resources, Santa Fe, NM 87505 USA Natl Ctr Genome Resources, Santa Fe, NM 87505 USA

Kingsmore, Stephen F.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Ctr Genome Resources, Santa Fe, NM 87505 USA Natl Ctr Genome Resources, Santa Fe, NM 87505 USA
[2]
Incidental Variants Are Critical for Genomics
[J].
Biesecker, Leslie G.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2013, 92 (05)
:648-651

Biesecker, Leslie G.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA
[3]
The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine
[J].
Biesecker, Leslie G.
;
Mullikin, James C.
;
Facio, Flavia M.
;
Turner, Clesson
;
Cherukuri, Praveen F.
;
Blakesley, Robert W.
;
Bouffard, Gerard G.
;
Chines, Peter S.
;
Cruz, Pedro
;
Hansen, Nancy F.
;
Teer, Jamie K.
;
Maskeri, Baishali
;
Young, Alice C.
;
Manolio, Teri A.
;
Wilson, Alexander F.
;
Finkel, Toren
;
Hwang, Paul
;
Arai, Andrew
;
Remaley, Alan T.
;
Sachdev, Vandana
;
Shamburek, Robert
;
Cannon, Richard O.
;
Green, Eric D.
.
GENOME RESEARCH,
2009, 19 (09)
:1665-1674

Biesecker, Leslie G.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA
Natl Inst Hlth Intramural Sequencing Ctr, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Mullikin, James C.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA
Natl Inst Hlth Intramural Sequencing Ctr, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Facio, Flavia M.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Turner, Clesson
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Cherukuri, Praveen F.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Blakesley, Robert W.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA
Natl Inst Hlth Intramural Sequencing Ctr, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Bouffard, Gerard G.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA
Natl Inst Hlth Intramural Sequencing Ctr, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Chines, Peter S.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Cruz, Pedro
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Inst Hlth Intramural Sequencing Ctr, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Hansen, Nancy F.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA
Natl Inst Hlth Intramural Sequencing Ctr, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Teer, Jamie K.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Maskeri, Baishali
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Inst Hlth Intramural Sequencing Ctr, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Young, Alice C.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Inst Hlth Intramural Sequencing Ctr, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Manolio, Teri A.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Wilson, Alexander F.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Finkel, Toren
论文数: 0 引用数: 0
h-index: 0
机构:
NHLBI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Hwang, Paul
论文数: 0 引用数: 0
h-index: 0
机构:
NHLBI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Arai, Andrew
论文数: 0 引用数: 0
h-index: 0
机构:
NHLBI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Remaley, Alan T.
论文数: 0 引用数: 0
h-index: 0
机构:
NHLBI, NIH, Bethesda, MD 20892 USA
NIH, Clin Res Ctr, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Sachdev, Vandana
论文数: 0 引用数: 0
h-index: 0
机构:
NHLBI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Shamburek, Robert
论文数: 0 引用数: 0
h-index: 0
机构:
NHLBI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Cannon, Richard O.
论文数: 0 引用数: 0
h-index: 0
机构:
NHLBI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA

Green, Eric D.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA
Natl Inst Hlth Intramural Sequencing Ctr, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA
[4]
Finishing the euchromatic sequence of the human genome
[J].
Collins, FS
;
Lander, ES
;
Rogers, J
;
Waterston, RH
.
NATURE,
2004, 431 (7011)
:931-945

Collins, FS
论文数: 0 引用数: 0
h-index: 0
机构: The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire

Lander, ES
论文数: 0 引用数: 0
h-index: 0
机构: The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire

Rogers, J
论文数: 0 引用数: 0
h-index: 0
机构: The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire

Waterston, RH
论文数: 0 引用数: 0
h-index: 0
机构: The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire
[5]
Next-Generation Sequencing Demands Next-Generation Phenotyping
[J].
Hennekam, Raoul C. M.
;
Biesecker, Leslie G.
.
HUMAN MUTATION,
2012, 33 (05)
:884-886

论文数: 引用数:
h-index:
机构:

Biesecker, Leslie G.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA Univ Amsterdam, Acad Med Ctr, Dept Pediat & Translat Genet, NL-1105 AZ Amsterdam, Netherlands
[6]
Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes
[J].
Johnston, Jennifer J.
;
Rubinstein, Wendy S.
;
Facio, Flavia M.
;
Ng, David
;
Singh, Larry N.
;
Teer, Jamie K.
;
Mullikin, James C.
;
Biesecker, Leslie G.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2012, 91 (01)
:97-108

Johnston, Jennifer J.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Rubinstein, Wendy S.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA
NorthShore Univ HealthSyst, Dept Med, Div Genet, Evanston, IL 60201 USA
Univ Chicago, Pritzker Sch Med, Dept Med, Chicago, IL 60637 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Facio, Flavia M.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Ng, David
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Singh, Larry N.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Teer, Jamie K.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA
NHGRI, NIH, Intramural Sequencing Ctr, Bethesda, MD 20852 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Mullikin, James C.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA
NHGRI, NIH, Intramural Sequencing Ctr, Bethesda, MD 20852 USA
NHGRI, Genome Technol Branch, NIH, Rockville, MD 20852 USA
NIH, Intramural Sequencing Ctr, Comparat Sequencing Program, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Biesecker, Leslie G.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA
NHGRI, NIH, Intramural Sequencing Ctr, Bethesda, MD 20852 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA
[7]
The impact of next-generation sequencing technology on genetics
[J].
Mardis, Elaine R.
.
TRENDS IN GENETICS,
2008, 24 (03)
:133-141

Mardis, Elaine R.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA
[8]
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
[J].
Miller, David T.
;
Adam, Margaret P.
;
Aradhya, Swaroop
;
Biesecker, Leslie G.
;
Brothman, Arthur R.
;
Carter, Nigel P.
;
Church, Deanna M.
;
Crolla, John A.
;
Eichler, Evan E.
;
Epstein, Charles J.
;
Faucett, W. Andrew
;
Feuk, Lars
;
Friedman, Jan M.
;
Hamosh, Ada
;
Jackson, Laird
;
Kaminsky, Erin B.
;
Kok, Klaas
;
Krantz, Ian D.
;
Kuhn, Robert M.
;
Lee, Charles
;
Ostell, James M.
;
Rosenberg, Carla
;
Scherer, Stephen W.
;
Spinner, Nancy B.
;
Stavropoulos, Dimitri J.
;
Tepperberg, James H.
;
Thorland, Erik C.
;
Vermeesch, Joris R.
;
Waggoner, Darrel J.
;
Watson, Michael S.
;
Martin, Christa Lese
;
Ledbetter, David H.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2010, 86 (05)
:749-764

Miller, David T.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp, Div Genet, Boston, MA 02115 USA
Childrens Hosp, Dept Lab Med, Boston, MA 02115 USA
Harvard Univ, Sch Med, Boston, MA USA Childrens Hosp, Div Genet, Boston, MA 02115 USA

论文数: 引用数:
h-index:
机构:

Aradhya, Swaroop
论文数: 0 引用数: 0
h-index: 0
机构:
GeneDx, Gaithersburg, MD USA Childrens Hosp, 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 Childrens Hosp, Div Genet, Boston, MA 02115 USA

论文数: 引用数:
h-index:
机构:

Carter, Nigel P.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge, England Childrens Hosp, Div Genet, Boston, MA 02115 USA

Church, Deanna M.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Lib Med, Natl Ctr Biotechnol Informat, Bethesda, MD 20894 USA Childrens Hosp, Div Genet, Boston, MA 02115 USA

Crolla, John A.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Genet Reference Lab Wessex, Salisbury, Wilts, England Childrens Hosp, Div Genet, Boston, MA 02115 USA

Eichler, Evan E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA USA
Univ Washington, Howard Hughes Med Inst, Sch Med, Seattle, WA 98195 USA Childrens Hosp, Div Genet, Boston, MA 02115 USA

Epstein, Charles J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA
Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USA Childrens Hosp, Div Genet, Boston, MA 02115 USA

Faucett, W. Andrew
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA USA Childrens Hosp, Div Genet, Boston, MA 02115 USA

Feuk, Lars
论文数: 0 引用数: 0
h-index: 0
机构:
Uppsala Univ, Rudbeck Lab, Uppsala, Sweden Childrens Hosp, Div Genet, Boston, MA 02115 USA

Friedman, Jan M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada
Child & Family Res Inst, Vancouver, BC, Canada Childrens Hosp, Div Genet, Boston, MA 02115 USA

Hamosh, Ada
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Childrens Hosp, Div Genet, Boston, MA 02115 USA

Jackson, Laird
论文数: 0 引用数: 0
h-index: 0
机构:
Drexel Univ, Coll Med, Dept Obstet & Gynecol, Philadelphia, PA 19104 USA Childrens Hosp, Div Genet, Boston, MA 02115 USA

Kaminsky, Erin B.
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA USA Childrens Hosp, Div Genet, Boston, MA 02115 USA

论文数: 引用数:
h-index:
机构:

Krantz, Ian D.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Childrens Hosp Philadelphia, Sch Med, Dept Pediat Human Genet, Philadelphia, PA 19104 USA Childrens Hosp, Div Genet, Boston, MA 02115 USA

Kuhn, Robert M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Santa Cruz, Ctr Biomol Sci & Engn, Santa Cruz, CA 95064 USA Childrens Hosp, Div Genet, Boston, MA 02115 USA

Lee, Charles
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Brigham & Womens Hosp, Sch Med, Dept Pathol, Boston, MA 02115 USA Childrens Hosp, Div Genet, Boston, MA 02115 USA

Ostell, James M.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Lib Med, Natl Ctr Biotechnol Informat, Bethesda, MD 20894 USA Childrens Hosp, Div Genet, Boston, MA 02115 USA

Rosenberg, Carla
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Dept Genet & Evolutionary Biol, BR-05508 Sao Paulo, Brazil Childrens Hosp, Div Genet, Boston, MA 02115 USA

论文数: 引用数:
h-index:
机构:

Spinner, Nancy B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Childrens Hosp Philadelphia, Sch Med, Dept Pediat Human Genet, Philadelphia, PA 19104 USA Childrens Hosp, Div Genet, Boston, MA 02115 USA

Stavropoulos, Dimitri J.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Sick Children, Dept Pediat Lab Med, Toronto, ON M5G 1X8, Canada Childrens Hosp, Div Genet, Boston, MA 02115 USA

Tepperberg, James H.
论文数: 0 引用数: 0
h-index: 0
机构:
Lab Corp Amer, Res Triangle Pk, NC USA Childrens Hosp, Div Genet, Boston, MA 02115 USA

Thorland, Erik C.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Rochester, MN USA Childrens Hosp, Div Genet, Boston, MA 02115 USA

Vermeesch, Joris R.
论文数: 0 引用数: 0
h-index: 0
机构:
Katholieke Univ Leuven, Ctr Human Genet, Leuven, Belgium Childrens Hosp, Div Genet, Boston, MA 02115 USA

Waggoner, Darrel J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Dept Human Genet & Pediat, Chicago, IL 60637 USA Childrens Hosp, 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, Bethesda, MI USA Childrens Hosp, Div Genet, Boston, MA 02115 USA

Martin, Christa Lese
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA USA Childrens Hosp, Div Genet, Boston, MA 02115 USA

Ledbetter, David H.
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA USA Childrens Hosp, Div Genet, Boston, MA 02115 USA
[9]
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria
[J].
Sloan, Jennifer L.
;
Johnston, Jennifer J.
;
Manoli, Irini
;
Chandler, Randy J.
;
Krause, Caitlin
;
Carrillo-Carrasco, Nuria
;
Chandrasekaran, Suma D.
;
Sysol, Justin R.
;
O'Brien, Kevin
;
Hauser, Natalie S.
;
Sapp, Julie C.
;
Dorward, Heidi M.
;
Huizing, Marjan
;
Barshop, Bruce A.
;
Berry, Susan A.
;
James, Philip M.
;
Champaigne, Neena L.
;
de Lonlay, Pascale
;
Valayannopoulos, Vassilli
;
Geschwind, Michael D.
;
Gavrilov, Dimitar K.
;
Nyhan, William L.
;
Biesecker, Leslie G.
;
Venditti, Charles P.
.
NATURE GENETICS,
2011, 43 (09)
:883-U96

Sloan, Jennifer L.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Genet & Mol Biol Branch, US Natl Inst Hlth NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Johnston, Jennifer J.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Manoli, Irini
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NHGRI, Genet & Mol Biol Branch, US Natl Inst Hlth NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Chandler, Randy J.
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机构:
NHGRI, Genet & Mol Biol Branch, US Natl Inst Hlth NIH, Bethesda, MD 20892 USA
George Washington Univ, Dept Pharmacol, Inst Biomed Sci, Washington, DC 20052 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Krause, Caitlin
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NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Carrillo-Carrasco, Nuria
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NHGRI, Genet & Mol Biol Branch, US Natl Inst Hlth NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Chandrasekaran, Suma D.
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NHGRI, Genet & Mol Biol Branch, US Natl Inst Hlth NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Sysol, Justin R.
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NHGRI, Genet & Mol Biol Branch, US Natl Inst Hlth NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

O'Brien, Kevin
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NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Hauser, Natalie S.
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NHGRI, Genet & Mol Biol Branch, US Natl Inst Hlth NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Sapp, Julie C.
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NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Dorward, Heidi M.
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NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Huizing, Marjan
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NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Barshop, Bruce A.
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h-index: 0
机构:
Univ Calif San Diego, Dept Pediat, Biochem Genet Lab, San Diego, CA 92103 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Berry, Susan A.
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Univ Minnesota, Dept Pediat, Minneapolis, MN 55455 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

James, Philip M.
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h-index: 0
机构:
Harvard Univ, Sch Med, Dept Pediat, Childrens Hosp Boston, Boston, MA 02115 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Champaigne, Neena L.
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Greenwood Genet Ctr, Greenwood, SC 29646 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

de Lonlay, Pascale
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Necker Enfants Malades Hosp, Reference Ctr Inherited Metab Disorders, Paris, France NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Valayannopoulos, Vassilli
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Necker Enfants Malades Hosp, Reference Ctr Inherited Metab Disorders, Paris, France NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Geschwind, Michael D.
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Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Gavrilov, Dimitar K.
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h-index: 0
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Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Nyhan, William L.
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Univ Calif San Diego, Dept Pediat, Biochem Genet Lab, San Diego, CA 92103 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Biesecker, Leslie G.
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NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

Venditti, Charles P.
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NHGRI, Genet & Mol Biol Branch, US Natl Inst Hlth NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA
[10]
Initial sequencing and comparative analysis of the mouse genome
[J].
Waterston, RH
;
Lindblad-Toh, K
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Birney, E
;
Rogers, J
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Abril, JF
;
Agarwal, P
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Agarwala, R
;
Ainscough, R
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Alexandersson, M
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An, P
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Antonarakis, SE
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Attwood, J
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Baertsch, R
;
Bailey, J
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Barlow, K
;
Beck, S
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Berry, E
;
Birren, B
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Bloom, T
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Bork, P
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Botcherby, M
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Bray, N
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Brent, MR
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Brown, DG
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Brown, SD
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Bult, C
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Burton, J
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Butler, J
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Campbell, RD
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Carninci, P
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Cawley, S
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Chiaromonte, F
;
Chinwalla, AT
;
Church, DM
;
Clamp, M
;
Clee, C
;
Collins, FS
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Cook, LL
;
Copley, RR
;
Coulson, A
;
Couronne, O
;
Cuff, J
;
Curwen, V
;
Cutts, T
;
Daly, M
;
David, R
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Davies, J
;
Delehaunty, KD
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NATURE,
2002, 420 (6915)
:520-562

Waterston, RH
论文数: 0 引用数: 0
h-index: 0
机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Lindblad-Toh, K
论文数: 0 引用数: 0
h-index: 0
机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Birney, E
论文数: 0 引用数: 0
h-index: 0
机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Rogers, J
论文数: 0 引用数: 0
h-index: 0
机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Abril, JF
论文数: 0 引用数: 0
h-index: 0
机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Agarwal, P
论文数: 0 引用数: 0
h-index: 0
机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Agarwala, R
论文数: 0 引用数: 0
h-index: 0
机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Ainscough, R
论文数: 0 引用数: 0
h-index: 0
机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Alexandersson, M
论文数: 0 引用数: 0
h-index: 0
机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

An, P
论文数: 0 引用数: 0
h-index: 0
机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Antonarakis, SE
论文数: 0 引用数: 0
h-index: 0
机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Attwood, J
论文数: 0 引用数: 0
h-index: 0
机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Baertsch, R
论文数: 0 引用数: 0
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Bailey, J
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Barlow, K
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Beck, S
论文数: 0 引用数: 0
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Berry, E
论文数: 0 引用数: 0
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Birren, B
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Bloom, T
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Bork, P
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Botcherby, M
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Bray, N
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Brent, MR
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Brown, DG
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Brown, SD
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Bult, C
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Burton, J
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Butler, J
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Campbell, RD
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Carninci, P
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Cawley, S
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Chiaromonte, F
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Chinwalla, AT
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Church, DM
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Clamp, M
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Clee, C
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Collins, FS
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Cook, LL
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Copley, RR
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Coulson, A
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Couronne, O
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Cuff, J
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Curwen, V
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Cutts, T
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Daly, M
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

David, R
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Davies, J
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Delehaunty, KD
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Deri, J
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

Dermitzakis, ET
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机构: Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA
