共 2 条
- [1] Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes[J]. NATURE GENETICS, 2013, 45 (11) : 1380 - +Flannick, Jason论文数: 0 引用数: 0 h-index: 0机构: Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA Massachusetts Gen Hosp, Diabet Unit, Boston, MA 02114 USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USABeer, Nicola L.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USABick, Alexander G.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA Harvard Univ, Sch Med, Dept Genet, Boston, MA USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USAAgarwala, Vineeta论文数: 0 引用数: 0 h-index: 0机构: Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA MIT, Harvard Mit Div Hlth Sci & Technol, Cambridge, MA 02139 USA Harvard Univ, Grad Sch Arts & Sci, Program Biophys, Cambridge, MA 02138 USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USAMolnes, Janne论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, KG Jebsen Ctr Diabet Res, Dept Clin Sci, Bergen, Norway Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USAGupta, Namrata论文数: 0 引用数: 0 h-index: 0机构: Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USABurtt, Noel P.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USAFlorez, Jose C.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA Harvard Univ, Sch Med, Dept Med, Boston, MA USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USAMeigs, James B.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Dept Med, Boston, MA USA Massachusetts Gen Hosp, Div Gen Med, Boston, MA 02114 USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USATaylor, Herman论文数: 0 引用数: 0 h-index: 0机构: Univ Mississippi, Med Ctr, Dept Med, Jackson, MS 39216 USA Jackson State Univ, Jackson, MS USA Tougaloo Coll, Div Nat Sci, Tougaloo, MS USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USALyssenko, Valeriya论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Clin Res Ctr, Dept Clin Sci Diabet & Endocrinol, Malmo, Sweden Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USAIrgens, Henrik论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, KG Jebsen Ctr Diabet Res, Dept Clin Sci, Bergen, Norway Haukeland Hosp, Dept Pediat, N-5021 Bergen, Norway Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USAFox, Ervin论文数: 0 引用数: 0 h-index: 0机构: Univ Mississippi, Med Ctr, Dept Med, Jackson, MS 39216 USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USABurslem, Frank论文数: 0 引用数: 0 h-index: 0机构: Prescient Life Sci, Cardiovasc & Metab Dis Practice, London, England Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USAJohansson, Stefan论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, KG Jebsen Ctr Diabet Res, Dept Clin Sci, Bergen, Norway Haukeland Hosp, Ctr Med Genet & Mol Med, N-5021 Bergen, Norway Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USABrosnan, M. Julia论文数: 0 引用数: 0 h-index: 0机构: Pfizer Inc, Cardiovasc & Metab Dis Res Unit, Cambridge, MA USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USATrimmer, Jeff K.论文数: 0 引用数: 0 h-index: 0机构: Pfizer Inc, Cardiovasc & Metab Dis Res Unit, Cambridge, MA USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USANewton-Cheh, Christopher论文数: 0 引用数: 0 h-index: 0机构: Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA Natl Heart Lung & Blood Inst Framingham Heart Stu, Framingham, MA USA Massachusetts Gen Hosp, Div Cardiol, Boston, MA 02114 USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USATuomi, Tiinamaija论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Gen Practice & Primary Hlth Care, Helsinki, Finland Univ Helsinki, Cent Hosp, Dept Med, Helsinki, Finland Univ Helsinki, Cent Hosp, Res Program Mol Med, Helsinki, Finland Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USAMolven, Anders论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, KG Jebsen Ctr Diabet Res, Dept Clin Sci, Bergen, Norway Univ Bergen, Dept Clin Med, Gade Lab Pathol, Bergen, Norway Haukeland Hosp, Dept Pathol, N-5021 Bergen, Norway Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USAWilson, James G.论文数: 0 引用数: 0 h-index: 0机构: Univ Mississippi, Med Ctr, Dept Physiol & Biophys, Jackson, MS 39216 USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USAO'Donnell, Christopher J.论文数: 0 引用数: 0 h-index: 0机构: Natl Heart Lung & Blood Inst Framingham Heart Stu, Framingham, MA USA Massachusetts Gen Hosp, Div Cardiol, Boston, MA 02114 USA NHLBI, Div Intramural Res, Bethesda, MD 20892 USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USAKathiresan, Sekar论文数: 0 引用数: 0 h-index: 0机构: Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA Massachusetts Gen Hosp, Div Cardiol, Boston, MA 02114 USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USAHirschhorn, Joel N.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA Harvard Univ, Sch Med, Dept Genet, Boston, MA USA Childrens Hosp, Div Genet, Boston, MA 02115 USA Childrens Hosp, Div Endocrinol, Boston, MA 02115 USA Childrens Hosp, Program Genom, Boston, MA 02115 USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USANjolstad, Pal R.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA Univ Bergen, KG Jebsen Ctr Diabet Res, Dept Clin Sci, Bergen, Norway Haukeland Hosp, Dept Pediat, N-5021 Bergen, Norway Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USARolph, Tim论文数: 0 引用数: 0 h-index: 0机构: Pfizer Inc, Cardiovasc & Metab Dis Res Unit, Cambridge, MA USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USASeidman, J. G.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Dept Genet, Boston, MA USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USAGabriel, Stacey论文数: 0 引用数: 0 h-index: 0机构: Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USACox, David R.论文数: 0 引用数: 0 h-index: 0机构: Pfizer Inc, Appl Quantitat Genotherapeut, San Francisco, CA USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USASeidman, Christine E.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Dept Genet, Boston, MA USA Brigham & Womens Hosp, Div Cardiovasc Med, Boston, MA 02115 USA Howard Hughes Med Inst, Chevy Chase, MD USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USAGroop, Leif论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Clin Res Ctr, Dept Clin Sci Diabet & Endocrinol, Malmo, Sweden Univ Helsinki, Finnish Inst Mol Med, Helsinki, Finland Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USAAltshuler, David论文数: 0 引用数: 0 h-index: 0机构: Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA Harvard Univ, Sch Med, Dept Genet, Boston, MA USA Harvard Univ, Sch Med, Dept Med, Boston, MA USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA
- [2] Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. GENETICS IN MEDICINE, 2015, 17 (05) : 405 - 424Richards, Sue论文数: 0 引用数: 0 h-index: 0机构: Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USAAziz, Nazneen论文数: 0 引用数: 0 h-index: 0机构: Coll Amer Pathologists, Chicago, IL USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USABale, Sherri论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USABick, David论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Dept Pediat, Genet Sect, Milwaukee, WI 53226 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USADas, Soma论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Clin Mol Genet Lab, Dept Human Genet, Chicago, IL 60637 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USAGastier-Foster, Julie论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Cytogenet Mol Genet Lab, Columbus, OH USA Ohio State Univ, Coll Med, Dept Pathol, Columbus, OH 43210 USA Ohio State Univ, Coll Med, Dept Pediat, Columbus, OH 43210 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USAGrody, Wayne W.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Sch Med, Dept Human Genet, Los Angeles, CA USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USAHegde, Madhuri论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Emory Genet Lab, Dept Human Genet, Atlanta, GA 30322 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USALyon, Elaine论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Pathol, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USASpector, Elaine论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Anschutz Med Sch, Childrens Hosp Colorado, Dept Pediat,Mol Genet Lab, Denver, CO 80202 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USAVoelkerding, Karl论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Pathol, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USARehm, Heidi L.论文数: 0 引用数: 0 h-index: 0机构: Brigham & Womens Hosp, Partners Lab Mol Med, Boston, MA 02115 USA Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA Harvard Univ, Sch Med, Boston, MA USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA