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- [1] [Anonymous], FANCONI ANEMIA GUIDE
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- [3] Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2005, 102 (44) : 15960 - 15964Armanios, M论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21025 USAChen, JL论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21025 USAChang, YPC论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21025 USABrodsky, RA论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21025 USAHawkins, A论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21025 USAGriffin, CA论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21025 USAEshleman, JR论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21025 USACohen, AR论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21025 USAChakravarti, A论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21025 USAHamosh, A论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21025 USAGreider, CW论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21025 USA
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- [5] Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing[J]. JOURNAL OF CLINICAL ONCOLOGY, 2016, 34 (34) : 4071 - +Balmana, Judith论文数: 0 引用数: 0 h-index: 0机构: Hosp Valle De Hebron, Barcelona, Spain Univ Autonoma Barcelona, Barcelona, Spain Hosp Valle De Hebron, Barcelona, SpainDigiovanni, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Philadelphia, PA USA Hosp Valle De Hebron, Barcelona, SpainGaddam, Pragna论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, 1275 York Ave, New York, NY 10021 USA Weill Cornell Med Coll, New York, NY USA Hosp Valle De Hebron, Barcelona, SpainWalsh, Michael F.论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, 1275 York Ave, New York, NY 10021 USA Weill Cornell Med Coll, New York, NY USA Hosp Valle De Hebron, Barcelona, SpainJoseph, Vijai论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, 1275 York Ave, New York, NY 10021 USA Weill Cornell Med Coll, New York, NY USA Hosp Valle De Hebron, Barcelona, SpainStadler, Zsofia K.论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, 1275 York Ave, New York, NY 10021 USA Weill Cornell Med Coll, New York, NY USA Hosp Valle De Hebron, Barcelona, SpainNathanson, Katherine L.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Philadelphia, PA USA Hosp Valle De Hebron, Barcelona, SpainGarber, Judy E.论文数: 0 引用数: 0 h-index: 0机构: Dana Farber Canc Inst, Boston, MA 02115 USA Hosp Valle De Hebron, Barcelona, SpainCouch, Fergus J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Rochester, MN USA Hosp Valle De Hebron, Barcelona, SpainOffit, Kenneth论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, 1275 York Ave, New York, NY 10021 USA Weill Cornell Med Coll, New York, NY USA Hosp Valle De Hebron, Barcelona, SpainRobson, Mark E.论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, 1275 York Ave, New York, NY 10021 USA Weill Cornell Med Coll, New York, NY USA Hosp Valle De Hebron, Barcelona, SpainDomchek, Susan M.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Philadelphia, PA USA Hosp Valle De Hebron, Barcelona, Spain
- [6] Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia[J]. BLOOD, 2012, 119 (22) : 5071 - 5077Beekman, Renee论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Hematol, NL-3015 GE Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Hematol, NL-3015 GE Rotterdam, NetherlandsValkhof, Marijke G.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Hematol, NL-3015 GE Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Hematol, NL-3015 GE Rotterdam, NetherlandsSanders, Mathijs A.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Hematol, NL-3015 GE Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Hematol, NL-3015 GE Rotterdam, Netherlandsvan Strien, Paulette M. H.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Hematol, NL-3015 GE Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Hematol, NL-3015 GE Rotterdam, NetherlandsHaanstra, Jurgen R.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Hematol, NL-3015 GE Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Hematol, NL-3015 GE Rotterdam, NetherlandsBroeders, Lianne论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Hematol, NL-3015 GE Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Hematol, NL-3015 GE Rotterdam, NetherlandsGeertsma-Kleinekoort, Wendy M.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Hematol, NL-3015 GE Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Hematol, NL-3015 GE Rotterdam, NetherlandsVeerman, Anjo J. P.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ, Med Ctr, Dept Pediat Hematol Oncol, Amsterdam, Netherlands Erasmus Univ, Med Ctr, Dept Hematol, NL-3015 GE Rotterdam, NetherlandsValk, Peter J. M.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Hematol, NL-3015 GE Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Hematol, NL-3015 GE Rotterdam, NetherlandsVerhaak, Roel G.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas MD Anderson Canc Ctr, Dept Bioinformat & Computat Biol, Houston, TX 77030 USA Erasmus Univ, Med Ctr, Dept Hematol, NL-3015 GE Rotterdam, NetherlandsLowenberg, Bob论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Hematol, NL-3015 GE Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Hematol, NL-3015 GE Rotterdam, NetherlandsTouw, Ivo P.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Hematol, NL-3015 GE Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Hematol, NL-3015 GE Rotterdam, Netherlands
- [7] Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 98 (06) : 1146 - 1158Chen, Dong-Hui论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Dept Neurol, Seattle, WA 98195 USA Univ Washington, Sch Med, Dept Neurol, Seattle, WA 98195 USABelow, Jennifer E.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA Univ Texas Houston, Sch Publ Hlth, POB 20186, Houston, TX 77225 USA Univ Washington, Sch Med, Dept Neurol, Seattle, WA 98195 USAShimamura, Akiko论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Sch Med, Div Hematol, Seattle, WA 98195 USA Seattle Childrens Hosp, Seattle, WA 98105 USA Fred Hutchinson Canc Res Ctr, Seattle, WA 98109 USA Harvard Univ, Sch Med, Boston Childrens Hosp, Boston, MA 02115 USA Univ Washington, Sch Med, Dept Neurol, Seattle, WA 98195 USAKeel, Sioban B.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Div Hematol, Seattle, WA 98195 USA Univ Washington, Sch Med, Dept Neurol, Seattle, WA 98195 USAMatsushita, Mark论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Div Med Genet, Seattle, WA 98195 USA Univ Washington, Sch Med, Dept Neurol, Seattle, WA 98195 USAWolff, John论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Div Med Genet, Seattle, WA 98195 USA Univ Washington, Sch Med, Dept Neurol, Seattle, WA 98195 USASul, Youngmee论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Div Med Genet, Seattle, WA 98195 USA Univ Washington, Sch Med, Dept Neurol, Seattle, WA 98195 USABonkowski, Emily论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Dept Neurol, Seattle, WA 98195 USA Univ Washington, Sch Med, Dept Neurol, Seattle, WA 98195 USACastella, Maria论文数: 0 引用数: 0 h-index: 0机构: Fred Hutchinson Canc Res Ctr, Seattle, WA 98109 USA Univ Washington, Sch Med, Dept Neurol, Seattle, WA 98195 USATaniguchi, Toshiyasu论文数: 0 引用数: 0 h-index: 0机构: Fred Hutchinson Canc Res Ctr, Seattle, WA 98109 USA Univ Washington, Sch Med, Dept Neurol, Seattle, WA 98195 USANickerson, Deborah论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Sch Med, Dept Neurol, Seattle, WA 98195 USAPapayannopoulou, Thalia论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Div Hematol, Seattle, WA 98195 USA Univ Washington, Sch Med, Dept Neurol, Seattle, WA 98195 USABird, Thomas D.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Dept Neurol, Seattle, WA 98195 USA Univ Washington, Sch Med, Div Med Genet, Seattle, WA 98195 USA Vet Adm Puget Sound Vet Hlth Care Ctr, Geriatr Res Educ & Clin Ctr, Seattle, WA 98108 USA Univ Washington, Sch Med, Dept Neurol, Seattle, WA 98195 USARaskind, Wendy H.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Div Med Genet, Seattle, WA 98195 USA Vet Adm Puget Sound Vet Hlth Care Ctr, Geriatr Res Educ & Clin Ctr, Seattle, WA 98108 USA Univ Washington, Sch Med, Div Psychiat & Behav Sci, Seattle, WA 98195 USA Univ Washington, Sch Med, Dept Neurol, Seattle, WA 98195 USA
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Chicago, IL 60637 USAMiller, Christopher A.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Genome Inst, St Louis, MO USA Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USAShen, Dong论文数: 0 引用数: 0 h-index: 0机构: Medimmune AstraZeneca, Gaithersburg, MD USA Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USAFulton, Robert论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Genome Inst, St Louis, MO USA Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USAO'Laughlin, Michelle论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Genome Inst, St Louis, MO USA Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USAFronick, Catrina论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Genome Inst, St Louis, MO USA Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USAPusic, Iskra论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Div Oncol, Dept Med, St Louis, MO USA Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USAUy, Geoffrey L.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Div Oncol, Dept Med, St Louis, MO USA Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USABraunstein, Evan M.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sidney Kimmel Canc Ctr, Baltimore, MD USA Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USALevis, Mark论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sidney Kimmel Canc Ctr, Baltimore, MD USA Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USARoss, Julie论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Dept Med, Minneapolis, MN 55455 USA Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USAElliott, Kevin论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Siteman Canc Ctr, St Louis, MO USA Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USAHeath, Sharon论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Siteman Canc Ctr, St Louis, MO USA Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USAJiang, Allan论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Div Oncol, Dept Med, St Louis, MO USA Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USAWestervelt, Peter论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Siteman Canc Ctr, St Louis, MO USA Washington Univ, Div Oncol, Dept Med, St Louis, MO USA Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USADiPersio, John F.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Siteman Canc Ctr, St Louis, MO USA Washington Univ, Div Oncol, Dept Med, St Louis, MO USA Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USALink, Daniel C.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Siteman Canc Ctr, St Louis, MO USA Washington Univ, Div Oncol, Dept Med, St Louis, MO USA Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USAWalter, Matthew J.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Siteman Canc Ctr, St Louis, MO USA Washington Univ, Div Oncol, Dept Med, St Louis, MO USA Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USAWelch, John论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Siteman Canc Ctr, St Louis, MO USA Washington Univ, Div Oncol, Dept Med, St Louis, MO USA Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USAWilson, Richard论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Siteman Canc Ctr, St Louis, MO USA Washington Univ, Genome Inst, St Louis, MO USA Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USALey, Timothy J.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Siteman Canc Ctr, St Louis, MO USA Washington Univ, Genome Inst, St Louis, MO USA Washington Univ, Div Oncol, Dept Med, St Louis, MO USA Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USAGodley, Lucy A.论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USA Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USAGraubert, Timothy A.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Canc, Boston, MA USA Univ Chicago, Hematol Oncol Sect, Ctr Clin Canc Genet, Chicago, IL 60637 USA
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