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- [1] Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation frameworkHUMAN MUTATION, 2018, 39 (11) : 1485 - 1493Grant, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA USACushman, Brandon J.论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA USACave, Helene论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Hop Robert Debre, Dept Genet, Sorbonne Paris Cite, Paris, France Univ Paris Diderot, Inst Univ Hematol, Sorbonne Paris Cite, Paris, France Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA USADillon, Mitchell W.论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Mol Genet Testing Lab, New York, NY 10029 USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA USAGelb, Bruce D.论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Dept Pediat, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA USAGripp, Karen W.论文数: 0 引用数: 0 h-index: 0机构: Nemours Alfred I duPont Hosp Children, Dept Pediat, Wilmington, DE USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA USALee, Jennifer A.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Mol Diagnost Lab, Greenwood, SC 29646 USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA USAMason-Suares, Heather论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA USARauen, Katherine A.论文数: 0 引用数: 0 h-index: 0机构: UC Davis Childrens Hosp, Dept Pediat, Sacramento, CA USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA USATartaglia, Marco论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Rome, Italy Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA USAVincent, Lisa M.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA USAZenker, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, Germany Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA USA
- [2] ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairsGENETICS IN MEDICINE, 2019, 21 (10) : 2239 - 2247DiStefano, Marina T.论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAHemphill, Sarah E.论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAOza, Andrea M.论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USA Boston Childrens Hosp, Dept Otolaryngol & Commun Enhancement, Boston, MA USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USASiegert, Rebecca K.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAGrant, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAHughes, Madeline Y.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USACushman, Brandon J.论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAAzaiez, Hela论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa Hosp & Clin, Dept Otolaryngol, Mol Otolaryngol & Renal Res Labs, Iowa City, IA 52242 USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USABooth, Kevin T.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa Hosp & Clin, Dept Otolaryngol, Mol Otolaryngol & Renal Res Labs, Iowa City, IA 52242 USA Univ Iowa, Carver Coll Med, Interdisciplinary Grad Program Mol Med, Iowa City, IA USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAChapin, Alex论文数: 0 引用数: 0 h-index: 0机构: ARUP Labs, Salt Lake City, UT USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USADuzkale, Hatice论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAMatsunaga, Tatsuo论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Org Tokyo Med Ctr, Div Hearing & Balance Res, Tokyo, Japan Natl Hosp Org Tokyo Med Ctr, Natl Inst Sensory Organs, Med Genet Ctr, Tokyo, Japan Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAShen, Jun论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USA Harvard Med Sch, Boston, MA 02115 USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAZhang, Wenying论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Heart Inst, Cincinnati, OH 45229 USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAKenna, Margaret论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Otolaryngol & Commun Enhancement, Boston, MA USA Harvard Med Sch, Boston, MA 02115 USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USASchimmenti, Lisa A.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Clin Genom & Biochem & Mol Biol, Dept Otorhinolaryngol, Rochester, MN USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USATekin, Mustafa论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, John P Hussman Inst Human Genom, Miami, FL USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USARehm, Heidi L.论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAAbou Tayoun, Ahmad N.论文数: 0 引用数: 0 h-index: 0机构: Al Jalila Childrens Specialty Hosp, Dubai, U Arab Emirates Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAAmr, Sami S.论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USA Harvard Med Sch, Boston, MA 02115 USA Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAAbdelhak, Sonia论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAAlexander, John论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAAvraham, Karen论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USABhatia, Neha论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USABai, Donglin论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USABoczek, Nicole论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USABrownstein, Zippora论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USABurt, Rachel论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USABylstra, Yasmin论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAdel Castillo, Ignacio论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAChoi, Byung Yoon论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USADownie, Lilian论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAFriedman, Thomas论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAGiersch, Anne论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAGoh, Jasmine论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAGreinwald, John论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAGriffith, Andrew J.论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAHernandez, Amy论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAHolt, Jeffrey论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAHosoya, Makoto论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAYing, Lim Jiin论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAJain, Kanika论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAKim, Un-Kyung论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAKremer, Hannie论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USAKrantz, Ian论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USALeal, Suzanne论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USALewis, Morag论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USALiu, Xue Zhong论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USALow, Wendy论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USALu, Yu论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA 02139 USA
- [3] Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data PlatformsANNUAL REVIEW OF BIOMEDICAL DATA SCIENCE, 2024, 7 : 31 - 50Wright, Matt W.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USAThaxton, Courtney L.论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina, Dept Genet, Chapel Hill, NC USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USANelson, Tristan论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Danville, PA USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USADiStefano, Marina T.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Med & Populat Genet, Cambridge, MA USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USASavatt, Juliann M.论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Danville, PA USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USABrush, Matthew H.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Biomed Informat, Anschutz Med Campus, Aurora, CO USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USACheung, Gloria论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USAMandell, Mark E.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USAWulf, Bryan论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USAWard, T. J.论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina, Dept Genet, Chapel Hill, NC USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USAGoehringer, Scott论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Danville, PA USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USAO'Neill, Terry论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Med & Populat Genet, Cambridge, MA USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USAWeller, Phil论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Danville, PA USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USAPreston, Christine G.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USAKeseler, Ingrid M.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USAGoldstein, Jennifer L.论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina, Dept Genet, Chapel Hill, NC USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USAStrande, Natasha T.论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Danville, PA USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USAMcglaughon, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina, Dept Genet, Chapel Hill, NC USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USAAzzariti, Danielle R.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Med & Populat Genet, Cambridge, MA USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USACordova, Ineke论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Danville, PA USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USADziadzio, Hannah论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Med & Populat Genet, Cambridge, MA USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USABabb, Lawrence论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Med & Populat Genet, Cambridge, MA USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USARiehle, Kevin论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USAMilosavljevic, Aleksandar论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USAMartin, Christa Lese论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Danville, PA USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USARehm, Heidi L.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Med & Populat Genet, Cambridge, MA USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USAPlon, Sharon E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Baylor Coll Med, Dept Pediat, Div Hematol Oncol, Houston, TX USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USABerg, Jonathan S.论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina, Dept Genet, Chapel Hill, NC USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USARiggs, Erin R.论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Danville, PA USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USAKlein, Teri E.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USA Stanford Univ, Sch Med, Dept Med Biomed Informat Res, Stanford, CA USA Stanford Univ, Sch Med, Dept Genet, Stanford, CA USA Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USA
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