共 50 条
- [1] The ClinGen CAKUT Gene Curation Expert PanelPEDIATRIC NEPHROLOGY, 2023, 38 (07) : 2276 - 2276Girod, Amanda论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Clin Genome Resource Program Med & Populat Genet, Boston, MA USA Broad Inst MIT & Harvard, Clin Genome Resource Program Med & Populat Genet, Boston, MA USAByrne, Alicia B.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Clin Genome Resource Program Med & Populat Genet, Boston, MA USA Broad Inst MIT & Harvard, Clin Genome Resource Program Med & Populat Genet, Boston, MA USASampson, Matthew G.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Nephrol, Boston, MA USA Harvard Med Sch, Dept Pediat Nephrol, Boston, MA USA Broad Inst MIT & Harvard, Clin Genome Resource Program Med & Populat Genet, Boston, MA USAMallett, Andrew论文数: 0 引用数: 0 h-index: 0机构: Townsville Hosp & Hlth Serv, Dept Renal Med, Townsville, Qld, Australia Univ Queensland, Inst Mol Biosci, Brisbane, Qld, Australia Univ Queensland, Fac Med, Brisbane, Qld, Australia Broad Inst MIT & Harvard, Clin Genome Resource Program Med & Populat Genet, Boston, MA USARasouly, Hila Milo论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Irving Med Ctr, Div Nephrol, Dept Med, New York, NY USA Broad Inst MIT & Harvard, Clin Genome Resource Program Med & Populat Genet, Boston, MA USAHoefele, Julia论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Sch Med, Inst Human Genet, Klinikum Rechts Isar, Munich, Germany Broad Inst MIT & Harvard, Clin Genome Resource Program Med & Populat Genet, Boston, MA USAGbadegesin, Rasheed A.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Div Nephrol, Dept Pediat, Durham, NC USA Broad Inst MIT & Harvard, Clin Genome Resource Program Med & Populat Genet, Boston, MA USA
- [2] ClinGen HHT variant curation expert panelANGIOGENESIS, 2019, 22 (04) : 613 - 614DeMille, D.论文数: 0 引用数: 0 h-index: 0机构: ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA论文数: 引用数: h-index:机构:Arthur, H. M.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Int Ctr Life, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USABernabeu, C.论文数: 0 引用数: 0 h-index: 0机构: CSIC, Ctr Invest Biol, Madrid, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USABrillant, M.论文数: 0 引用数: 0 h-index: 0机构: Marshfield Clin Res Inst, Marshfield, WI USA ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USADupuis-Girod, S.论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Hop Femme Mere Enfant, Serv Genet, Bron, France Ctr Reference Malad Rendu Osler, Bron, France ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAGanguly, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Genet, Philadelphia, PA 19104 USA ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAGiraud, S.论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Grp Hosp Est, Serv Genet, Div Mol Genet, Bron, France ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAJessen, J.论文数: 0 引用数: 0 h-index: 0机构: Impact Genet, Bowmanville, ON, Canada ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAKasthuri, R.论文数: 0 引用数: 0 h-index: 0机构: UNC Sch Med, Dept Med, Div Hematol & Oncol, Chapel Hill, NC USA ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAOlivieri, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Mol Med, Gen Biol & Med Genet Unit, Pavia, Italy ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAvan Amstel, Ploos H. K.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Div Lab Pharm & Biomed Genet, Utrecht, Netherlands ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAPyeritz, R. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Med, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USA ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USARacher, H.论文数: 0 引用数: 0 h-index: 0机构: Impact Genet, Bowmanville, ON, Canada ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAShovlin, C. L.论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, NHLI Cardiovasc Sci, London, England Imperial Coll Healthcare NHS Trust, Resp Med, London, England ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USATorring, P. M.论文数: 0 引用数: 0 h-index: 0机构: Odense Univ Hosp, Dept Clin Genet, Odense, Denmark ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USABayrak-Toydemir, P.论文数: 0 引用数: 0 h-index: 0机构: ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Univ Utah, Dept Pathol, Salt Lake City, UT USA ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA
- [3] Charcot-Marie-Tooth disease gene curation expert panel (ClinGen)JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2020, 25 (04) : 465 - 466Rebelo, Adriana论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USA Univ Miami, Miami, FL USABis-Brewer, Dana Marie论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USAThaxton, Courtney论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Chapel Hill, NC 27515 USA Univ Miami, Miami, FL USAMayers, Megan论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Chapel Hill, NC 27515 USA Univ Miami, Miami, FL USAFlowers, May论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Chapel Hill, NC 27515 USA Univ Miami, Miami, FL USAScherer, Steven论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Philadelphia, PA 19104 USA Univ Miami, Miami, FL USARossor, Alexander论文数: 0 引用数: 0 h-index: 0机构: Queen Sq UCL Inst Neurol, London, England Univ Miami, Miami, FL USAKlein, Christopher论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Rochester, MN USA Univ Miami, Miami, FL USA论文数: 引用数: h-index:机构:Stojkovic, Tanya论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USACintra, Vivian论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USA Univ Miami, Miami, FL USASiskind, Carly论文数: 0 引用数: 0 h-index: 0机构: Stanford Hlth Care, Palo Alto, CA USA Univ Miami, Miami, FL USABattaloglu, Ersa论文数: 0 引用数: 0 h-index: 0机构: Bogazici Univ, Istanbul, Turkey Univ Miami, Miami, FL USASaba, Sadaf论文数: 0 引用数: 0 h-index: 0机构: Wayne State Univ, Detroit, MI USA Univ Miami, Miami, FL USASadjadi, Reza论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Boston, MA 02114 USA Univ Miami, Miami, FL USAElloumi, Houda论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USACortese, Andrea论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England Univ Miami, Miami, FL USAFeely, Shawna论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USACallegari, Ilaria论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USAPhatak, Amruta论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ, Bloomington, IN USA Univ Miami, Miami, FL USAHerrmann, David论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Rochester, NY USA Univ Miami, Miami, FL USAZuchner, Stephan论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USA Univ Miami, Miami, FL USA
- [4] THE CHARCOT-MARIE-TOOTH DISEASE GENE CURATION EXPERT PANEL (CLINGEN)JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2022, 27 : S17 - S18Bis-Brewer, Dana论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Miami, FL USA GeneDx, Miami, FL USARebelo, Adriana论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USA GeneDx, Miami, FL USAThaxton, Courtney论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Chapel Hill, NC 27515 USA GeneDx, Miami, FL USADohrn, Maike论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Dept Human Genet, Dr John T Macdonald Fdn, Miami, FL USA GeneDx, Miami, FL USABeijer, Danique论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USA GeneDx, Miami, FL USASaba, Sadaf论文数: 0 引用数: 0 h-index: 0机构: Wayne State Univ, Detroit, MI USA GeneDx, Miami, FL USAElloumi, Houda论文数: 0 引用数: 0 h-index: 0机构: GeneDX, Gaithersburg, MD USA GeneDx, Miami, FL USACallegari, Ilaria论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy GeneDx, Miami, FL USASeyedsadjadi, Reza论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Cambridge, MA 02138 USA GeneDx, Miami, FL USAHermann, David论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Dept Neurol, Rochester, NY USA GeneDx, Miami, FL USACortese, Andrea论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England GeneDx, Miami, FL USAStojkovic, Tanya论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, Paris, France GeneDx, Miami, FL USAScherer, Steven论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Neurol, Philadelphia, PA USA GeneDx, Miami, FL USAZuchner, Stephan论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Miami, FL USA GeneDx, Miami, FL USA
- [5] The Charcot-Marie-Tooth disease gene curation expert panel (ClinGen)JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2021, 26 (03) : 423 - 424Rebelo, Adriana论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USA Univ Miami, Miami, FL USABis-Brewer, Dana论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Miami, FL USA Univ Miami, Miami, FL USAThaxton, Courtney论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Chapel Hill, NC 27515 USA Univ Miami, Miami, FL USAFlowers, May论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Chapel Hill, NC 27515 USA Univ Miami, Miami, FL USADohrn, Maike论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, John P Hussman Inst Human Genom, Miami, FL USA Univ Miami, Miami, FL USASaba, Sadaf论文数: 0 引用数: 0 h-index: 0机构: Wayne State Univ, Detroit, MI USA Univ Miami, Miami, FL USAElloumi, Houda论文数: 0 引用数: 0 h-index: 0机构: GeneDX, Gaithersburg, MD USA Univ Miami, Miami, FL USAPhatak, Amruta论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ, Bloomington, IN USA Univ Miami, Miami, FL USACallegari, Ilaria论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy Univ Miami, Miami, FL USASeyedsadjadi, Reza论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Cambridge, MA 02138 USA Univ Miami, Miami, FL USAHerrmann, David论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Dept Neurol, Rochester, NY USA Univ Miami, Miami, FL USACortese, Andrea论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Univ Miami, Miami, FL USABattaloglu, Esra论文数: 0 引用数: 0 h-index: 0机构: Bogazici Univ, Dept Mol Biol & Genet, Istanbul, Turkey Univ Miami, Miami, FL USAStojkovic, Tanya论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, Paris, France Univ Miami, Miami, FL USAScherer, Steven论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Philadelphia, PA 19104 USA Univ Miami, Miami, FL USAZuchner, Stephan论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Miami, FL 33136 USA Univ Miami, Miami, FL USA
- [6] Progress in Curating Gene-Disease Relationships by the ClinGen Monogenic Diabetes Expert PanelDIABETES, 2020, 69Pollin, Toni I.论文数: 0 引用数: 0 h-index: 0Mayers, Megan A.论文数: 0 引用数: 0 h-index: 0Greeley, Siri Atma W.论文数: 0 引用数: 0 h-index: 0Maloney, Kristin A.论文数: 0 引用数: 0 h-index: 0Naylor, Rochelle N.论文数: 0 引用数: 0 h-index: 0Pakyz, Ruth E.论文数: 0 引用数: 0 h-index: 0Patel, Kashyap A.论文数: 0 引用数: 0 h-index: 0Udler, Miriam论文数: 0 引用数: 0 h-index: 0Zhang, Haichen论文数: 0 引用数: 0 h-index: 0Colclough, Kevin论文数: 0 引用数: 0 h-index: 0Thaxton, Courtney论文数: 0 引用数: 0 h-index: 0
- [7] A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen)COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2019, 5 (05):Ritter, Deborah I.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Texas Childrens Hosp, Texas Childrens Canc Ctr, Houston, TX 77030 USA Baylor Coll Med, Houston, TX 77030 USARao, Shruti论文数: 0 引用数: 0 h-index: 0机构: Georgetown Univ, Innovat Ctr Biomed Informat, Washington, DC 20007 USA Baylor Coll Med, Houston, TX 77030 USAKulkarni, Shashikant论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Houston, TX 77030 USAMadhavan, Subha论文数: 0 引用数: 0 h-index: 0机构: Georgetown Univ, Innovat Ctr Biomed Informat, Washington, DC 20007 USA Baylor Coll Med, Houston, TX 77030 USAOffit, Kenneth论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, Dept Med, New York, NY 10065 USA Sloan Kettering Inst, New York, NY 10065 USA Baylor Coll Med, Houston, TX 77030 USAPlon, Sharon E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Texas Childrens Hosp, Texas Childrens Canc Ctr, Houston, TX 77030 USA Baylor Coll Med, Houston, TX 77030 USA
- [8] The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteriaHUMAN MUTATION, 2018, 39 (11) : 1476 - 1484Helbig, Ingo论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USA Christian Albrechts Univ Kiel, Dept Neuropediat, Kiel, Germany Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USARiggs, Erin Rooney论文数: 0 引用数: 0 h-index: 0机构: Geisinger Hlth Syst, Autism& Dev Med Inst, Lewisburg, PA USA Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USABarry, Carrie-Anne论文数: 0 引用数: 0 h-index: 0机构: Geisinger Hlth Syst, Autism& Dev Med Inst, Lewisburg, PA USA Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USA论文数: 引用数: h-index:机构:Dyment, David论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USAThaxton, Courtney论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Genet, Chapel Hill, NC USA Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USASadikovic, Bekim论文数: 0 引用数: 0 h-index: 0机构: Western Univ Mol Genet Lab, London Hlth Sci, Dept Pathol & Lab Med, London, ON, Canada Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USASands, Tristan T.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Div Child Neurol, New York, NY USA Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USAWagnon, Jacy L.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USALiaquat, Khalida论文数: 0 引用数: 0 h-index: 0机构: Athena Diagnost, Quest Diagnost, Marlborough, MA USA Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USACilio, Maria Roberta论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USAMirzaa, Ghayda论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USAPark, Kristen论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Sch Med, Dept Pediat & Neurol, Aurora, CO USA Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USAAxeen, Erika论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Dept Neurol, Charlottesville, VA USA Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USAButler, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USABardakjian, Tanya M.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Neurol, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USAStriano, Pasquale论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, G Gaslini Inst, DINOGMI Dept Neurosci Rehabil Ophthalmol Genet Ma, Pediat Neurol & Muscular Dis Unit, Genoa, Italy Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USAPoduri, Annapurna论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Neurol, Epilepsy Genet Program, Boston, MA USA Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USASiegert, Rebecca K.论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA USA Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USAGrant, 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 Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USAHelbig, Katherine L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USAMefford, Heather C.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Div Med Genet, Seattle, WA USA Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USA
- [9] Genes Associated With Hypertrophic Cardiomyopathy A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert PanelJOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2025, 85 (07) : 727 - 740Hespe, Sophie论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, Australia UNSW Sydney, Sydney, NSW, Australia Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaWaddell, Amber论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USA Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaAsatryan, Babken论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Med, Div Cardiol, Baltimore, MD USA Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaOwens, Emma论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USA Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, Australia论文数: 引用数: h-index:机构:Adduru, Mhy-Lanie论文数: 0 引用数: 0 h-index: 0机构: uBiome, San Francisco, CA USA Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaAnderson, Kailyn论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA USA Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaBrown, Emily E.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Med, Div Cardiol, Baltimore, MD USA Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaHoffman-Andrews, Lily论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Div Cardiovasc Med, Perelman Ctr Adv Med,Dept Med,Ctr Inherited Cardio, Philadelphia, PA 19104 USA Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaJordan, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Dept Internal Med, Div Human Genet, Columbus, OH USA Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaJosephs, Katherine论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, Natl Heart & Lung Inst, London, England Imperial Coll London, MRC Lab Med Sci, London, England Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaMayers, Megan论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USA Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaPeters, Stacey论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Dept Cardiol & Genom Med, Melbourne, Vic, Australia Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaStafford, Fergus论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, Australia UNSW Sydney, Sydney, NSW, Australia Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaBagnall, Richard D.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Bioinformat & Mol Genet, Centenary Inst, Sydney, NSW, Australia Univ Sydney, Fac Med & Hlth, Sydney, NSW, Australia Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaBronicki, Lucas论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Dept Pathol & Lab Med, Ottawa, ON, Canada Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON, Canada Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaCallewaert, Bert论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Dept Biomol Med, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaChahal, C. Anwar A.论文数: 0 引用数: 0 h-index: 0机构: WellSpan Hlth, Ctr Inherited Cardiovasc Dis, Lancaster, PA USA Mayo Clin, Rochester, MN USA Barts Heart Ctr, London, England Queen Mary Univ London, William Harvey Res Inst, London, England Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaJames, Cynthia A.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Med, Div Cardiol, Baltimore, MD USA Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaJarinova, Olga论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaLandstrom, Andrew P.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Sch Med, Durham, NC USA Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaMcnally, Elizabeth M.论文数: 0 引用数: 0 h-index: 0机构: Northwestern Univ, Ctr Genet Med, Feinberg Sch Med, Dept Med Cardiol, Chicago, IL USA Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaMurray, Brittney论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Med, Div Cardiol, Baltimore, MD USA Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaMuino-Mosquera, Laura论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium Ghent Univ Hosp, Dept Pediat, Div Pediat Cardiol, Ghent, Belgium Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaParikh, Victoria论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Stanford Ctr Inherited Cardiovasc Dis, Sch Med, Div Cardiovasc Med,Dept Med, Stanford, CA USA Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, Australia论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Wayburn, Bess论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Clin Genom, Viejo, CA USA Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaWare, James S.论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, Natl Heart & Lung Inst, London, England Imperial Coll London, MRC Lab Med Sci, London, England Imperial Coll Healthcare NHS Fdn Trust, Hammersmith Hosp, London, England Guys & St Thomas NHS Fdn Trust, Royal Brompton & Harefield Hosp, London, England Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, AustraliaIngles, Jodie论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, Australia UNSW Sydney, Sydney, NSW, Australia UNSW Sydney, Fac Med & Hlth, Sch Clin Med, Sydney, NSW, Australia Garvan Inst Med Res, Genom & Inherited Dis Program, 384 Victoria St, Sydney, NSW 2010, Australia
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