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- [1] FIRST YEAR OF LDLR VARIANT CLASSIFICATION FROM THE CLINGEN FAMILIAL HYPERCHOLESTEROLEMIA VARIANT CURATION EXPERT PANELMEDICINE, 2023, 102 (13)Chora, Joana Rita论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Saude Doutor Ricardo Jorge, Dept Promocao Saude Doencas Nao Transmissiveis, Unidade I&D, Grupo Invest Cardiovasc, Lisbon, Portugal Univ Lisbon, BioISI Biosyst & Integrat Sci Inst, Fac Sci, Lisbon, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Dept Promocao Saude Doencas Nao Transmissiveis, Unidade I&D, Grupo Invest Cardiovasc, Lisbon, PortugalBourbon, Mafalda论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Saude Doutor Ricardo Jorge, Dept Promocao Saude Doencas Nao Transmissiveis, Unidade I&D, Grupo Invest Cardiovasc, Lisbon, Portugal Univ Lisbon, BioISI Biosyst & Integrat Sci Inst, Fac Sci, Lisbon, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Dept Promocao Saude Doencas Nao Transmissiveis, Unidade I&D, Grupo Invest Cardiovasc, Lisbon, Portugal
- [2] The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classificationGENETICS IN MEDICINE, 2022, 24 (02) : 293 - 306Chora, Joana R.论文数: 0 引用数: 0 h-index: 0机构: Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, Portugal Univ Lisbon, Fac Sci, Dept Chem & Biochem, BioISI BioSyst & Integrat Sci Inst, Lisbon, Portugal Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalIacocca, Michael A.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 Pathol, Stanford, CA 94305 USA Hosp Sick Children, Dept Paediat Lab Med, Toronto, ON, Canada Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalTichy, Lukas论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Brno, Ctr Mol Biol & Gene Therapy, Brno, Czech Republic Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, Portugal论文数: 引用数: h-index:机构:Kurtz, C. Lisa论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Sch Med, Dept Genet, Chapel Hill, NC 27515 USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalZimmermann, Heather论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalLeon, Annette论文数: 0 引用数: 0 h-index: 0机构: Color Hlth Inc, Burlingame, CA USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalWilliams, Maggie论文数: 0 引用数: 0 h-index: 0机构: North Bristol NHS Trust, Bristol Genet Lab, Bristol, Avon, England Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalHumphries, Steve E.论文数: 0 引用数: 0 h-index: 0机构: UCL, Ctr Cardiovasc Genet, Inst Cardiovasc Sci, London, England Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalHooper, Amanda J.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Royal Perth Hosp, PathWest Lab Med WA, Dept Clin Biochem, Perth, WA, Australia Univ Western Australia, Fiona Stanley Hosp Network, Perth, WA, Australia Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalTrinder, Mark论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Fac Med, Dept Med, Vancouver, BC, Canada Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalBrunham, Liam R.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Fac Med, Dept Med, Vancouver, BC, Canada Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalPereira, Alexandre Costa论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Inst Hearth InCor, Lab Genet & Mol Cardiol, Sao Paulo, Brazil Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalJannes, Cinthia E.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Inst Hearth InCor, Lab Genet & Mol Cardiol, Sao Paulo, Brazil Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalChen, Margaret论文数: 0 引用数: 0 h-index: 0机构: GeneDx Inc, Gaithersburg, MD USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalChonis, Jessica论文数: 0 引用数: 0 h-index: 0机构: GeneDx Inc, Gaithersburg, MD USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalWang, Jian论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Robarts Res Inst, Schulich Sch Med & Dent, London, ON, Canada Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalKim, Serra论文数: 0 引用数: 0 h-index: 0机构: Color Hlth Inc, Burlingame, CA USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalJohnston, Tami论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalSoucek, Premysl论文数: 0 引用数: 0 h-index: 0机构: Ctr Cardiovasc Surg & Transplantat, Brno, Czech Republic Masaryk Univ, Fac Med, Brno, Czech Republic Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalKramarek, Michal论文数: 0 引用数: 0 h-index: 0机构: Ctr Cardiovasc Surg & Transplantat, Brno, Czech Republic Masaryk Univ, Fac Med, Brno, Czech Republic Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalLeigh, Sarah E.论文数: 0 引用数: 0 h-index: 0机构: Genom England, London, England Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalCarrie, Alain论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Obes & Dyslipidemia Genet Unit, Mol & Chromosomal Genet Ctr, Univ Hosp Pitie Salpetriere Charles Foix, Paris, France Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalSijbrands, Eric J.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Acad Med Ctr, Rotterdam, Netherlands Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalHegele, Robert A.论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Robarts Res Inst, Schulich Sch Med & Dent, London, ON, Canada Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalFreiberger, Tomas论文数: 0 引用数: 0 h-index: 0机构: Ctr Cardiovasc Surg & Transplantat, Brno, Czech Republic Masaryk Univ, Fac Med, Brno, Czech Republic Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalKnowles, Joshua W.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Prevent Res Ctr, Div Cardiovasc Med,Stanford Cardiovasc Inst, Stanford, CA 94305 USA Stanford Univ, Sch Med, Diabet Res Ctr, Stanford, CA 94305 USA FH Fdn, Pasadena, CA USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalBourbon, Mafalda论文数: 0 引用数: 0 h-index: 0机构: Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, Portugal Univ Lisbon, Fac Sci, Dept Chem & Biochem, BioISI BioSyst & Integrat Sci Inst, Lisbon, Portugal Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, Portugal
- [3] RESOLVING CONFLICTING LDLR VARIANTS IN CLINVAR - PROGRESS OF THE CLINGEN FAMILIAL HYPERCHOLESTEROLEMIA VARIANT CURATION EXPERT PANELATHEROSCLEROSIS, 2023, 379论文数: 引用数: h-index:机构:Iacocca, M.论文数: 0 引用数: 0 h-index: 0机构: Deep Genom, Toronto, ON, Canada Natl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Lisbon, PortugalElnagheeb, M.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Chapel Hill, NC USA Natl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Lisbon, PortugalKullo, I.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Cardiovasc Med, Rochester, MN USA Natl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Lisbon, PortugalBourbon, M.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Lisbon, Portugal Univ Lisbon, Bioisi Biosyst & Integrat Sci Inst, Fac Sci, Lisbon, Portugal Natl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Lisbon, Portugal
- [4] RECOMMENDATIONS FOR LDLR VARIANT INTERPRETATION BY THE CLINGEN'S FAMILIAL HYPERCHOLESTEROLEMIA EXPERT PANELMEDICINE, 2021, 100 (04)Chora, Joana论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalIacocca, Michael论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Robarts Res Inst, London, ON, Canada Stanford Univ, Ctr Inherited Cardiovasc Dis, Stanford, CA 94305 USA Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalTichy, Lukas论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Brno, Ctr Mol Biol & Gene Therapy, Brno, Czech Republic Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, Portugal论文数: 引用数: h-index:机构:Kurtz, Lisa C.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalZimmermann, Heather论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA USA Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalMeredith, Annette Leon论文数: 0 引用数: 0 h-index: 0机构: Color Genom Inc, Burlingame, CA USA Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalWilliams, Maggie论文数: 0 引用数: 0 h-index: 0机构: Bristol Genet Lab, Bristol, Avon, England Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalHumphries, Steve E.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Cardiovasc Sci, Ctr Cardiovasc Genet, London, England Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalHooper, Amanda J.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, PathWest Lab Med, Cardiovasc Genet Lab, Perth, WA, Australia Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalBrunham, Liam论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med, Vancouver, BC, Canada Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalPereira, Alexandre da Costa论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Inst Coracao InCor, Lab Genet & Mol Cardiol, Sao Paulo, Brazil Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalChen, Margaret论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalWang, Jian论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Res Inst, London, ON, Canada Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalTrinder, Mark论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med, Vancouver, BC, Canada Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalJannes, Cinthia Elim论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Inst Coracao InCor, Lab Genet & Mol Cardiol, Sao Paulo, Brazil Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalChonis, Jessica论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalKim, Serra论文数: 0 引用数: 0 h-index: 0机构: Color Genom Inc, Burlingame, CA USA Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalPesaran, Tina论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA USA Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalJohnston, Tami论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA USA Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalCarrie, Alain论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Univ Pitie Salpetriere Charles Foix, Mol & Chromosomal Genet Ctr, Obes & Dyslipidemia Genet Unit, Paris, France Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalLeigh, Sarah论文数: 0 引用数: 0 h-index: 0机构: Genom England, London, England Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalHegele, Robert A.论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Robarts Res Inst, London, ON, Canada Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalSijbrands, Eric论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Acad Med Ctr, Rotterdam, Netherlands Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalFreiberger, Tomas论文数: 0 引用数: 0 h-index: 0机构: Ctr Cardiovasc Surg & Transplantat, Brno, Czech Republic Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalKnowles, Joshua W.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Ctr Inherited Cardiovasc Dis, Stanford, CA 94305 USA FH Fdn, Pasadena, CA USA Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, PortugalBourbon, Mafalda论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, Portugal
- [5] 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
- [6] Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert PanelMOLECULAR GENETICS AND METABOLISM, 2023, 140 (1-2)Goldstein, Jennifer L.论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USA Univ N Carolina, Dept Genet, CB 7264, Chapel Hill, NC 27599 USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USAMcglaughon, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Invitae Corp, San Francisco, CA USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USAKanavy, Dona论文数: 0 引用数: 0 h-index: 0机构: Duke Univ Hlth Syst, Durham, NC USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USAGoomber, Shelly论文数: 0 引用数: 0 h-index: 0机构: Duke Univ Hlth Syst, Durham, NC USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USAPan, Yinghong论文数: 0 引用数: 0 h-index: 0机构: Embryom, Waltham, MA USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USADeml, Brett论文数: 0 引用数: 0 h-index: 0机构: Prevent Genet, Marshfield, WI USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USADonti, Taraka论文数: 0 引用数: 0 h-index: 0机构: Embryom, Waltham, MA USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USAKearns, Liz论文数: 0 引用数: 0 h-index: 0机构: Dana Farber Canc Inst, Boston, MA USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USASeifert, Bryce A.论文数: 0 引用数: 0 h-index: 0机构: NIAID, NIH, Bethesda, MD USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USASchachter, Miriam论文数: 0 引用数: 0 h-index: 0机构: New Jersey Dept Hlth, Ewing, NJ USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USASon, Rachel G.论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Pritzker Sch Med, Chicago, IL 60637 USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USA论文数: 引用数: h-index:机构:Udani, Rupa论文数: 0 引用数: 0 h-index: 0机构: Univ Wisconsin, Wisconsin State Lab Hyg, Madison, WI 53718 USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USABali, Deeksha论文数: 0 引用数: 0 h-index: 0机构: Duke Univ Hlth Syst, Durham, NC USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USABaudet, Heather论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USACaggana, Michele论文数: 0 引用数: 0 h-index: 0机构: New York State Dept Hlth, Newborn Screening Program, Div Genet, Wadsworth Ctr, Albany, NY USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USAHung, Christina论文数: 0 引用数: 0 h-index: 0机构: Invitae Corp, San Francisco, CA USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USAKyriakopoulou, Lianna论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Kids, Toronto, ON, Canada Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USARosenblum, Lynne论文数: 0 引用数: 0 h-index: 0机构: Integrated Genet LabCorp, Westborough, MA USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USASteiner, Robert论文数: 0 引用数: 0 h-index: 0机构: Prevent Genet, Marshfield, WI USA Med Coll Wisconsin, Brookfield, WI USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USAPinto e Vairo, Filippo论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Rochester, MN USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USAWang, Yang论文数: 0 引用数: 0 h-index: 0机构: Embryom, Waltham, MA USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USAWatson, Michael论文数: 0 引用数: 0 h-index: 0机构: Amer Coll Med Genet & Genom, Bethesda, MD USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USAFernandez, Raquel论文数: 0 引用数: 0 h-index: 0机构: Amer Coll Med Genet & Genom, Bethesda, MD USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USAWeaver, Meredith论文数: 0 引用数: 0 h-index: 0机构: Amer Coll Med Genet & Genom, Bethesda, MD USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USAClarke, Lorne论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USARehder, Catherine论文数: 0 引用数: 0 h-index: 0机构: Duke Univ Hlth Syst, Durham, NC USA Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USA
- [7] SPECIFICATION OF ACMG/AMP GUIDELINES FOR STANDARDIZED VARIANT INTERPRETATION IN FAMILIAL HYPERCHOLESTEROLEMIA: ON BEHALF OF THE CLINGEN FH VARIANT CURATION EXPERT PANELATHEROSCLEROSIS, 2020, 315 : E5 - E5Iacocca, M. A.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Pathol, Stanford, CA USA Stanford Univ, Pathol, Stanford, CA USAChora, J. R.论文数: 0 引用数: 0 h-index: 0机构: Hlth Promot & Prevent Non Communicable Dis, Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, Portugal Stanford Univ, Pathol, Stanford, CA USAFreiberger, T.论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Ctr Cardiovasc Surg & Transplantat, Med, Brno, Czech Republic Stanford Univ, Pathol, Stanford, CA USACarrie, A.论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Pitie Salpetriere, Paris, France Stanford Univ, Pathol, Stanford, CA USASijbrands, E. J.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Med, Rotterdam, Netherlands Stanford Univ, Pathol, Stanford, CA USAWand, H.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Pathol, Stanford, CA USA Stanford Univ, Pathol, Stanford, CA USAWilliams, M.论文数: 0 引用数: 0 h-index: 0机构: Natl Hlth Serv, Genet, Bristol, Avon, England Stanford Univ, Pathol, Stanford, CA USAZimmermann, H.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Genet, Aliso Viejo, CA USA Stanford Univ, Pathol, Stanford, CA USALeon, A.论文数: 0 引用数: 0 h-index: 0机构: Color Genom, Genet, Burlingame, CA USA Stanford Univ, Pathol, Stanford, CA USAKurtz, C. L.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Genet, Chapel Hill, NC USA Stanford Univ, Pathol, Stanford, CA USATichy, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Brno, Ctr Mol Biol & Gene Therapy, Brno, Czech Republic Stanford Univ, Pathol, Stanford, CA USAAlves, A. C.论文数: 0 引用数: 0 h-index: 0机构: Hlth Promot & Prevent Non Communicable Dis, Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, Portugal Stanford Univ, Pathol, Stanford, CA USAWang, J.论文数: 0 引用数: 0 h-index: 0机构: Robarts Res Inst, Biochem, London, ON, Canada Stanford Univ, Pathol, Stanford, CA USACuchel, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Med, Philadelphia, PA USA Stanford Univ, Pathol, Stanford, CA USAHumphries, S. E.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Cardiovasc Sci, London, England Stanford Univ, Pathol, Stanford, CA USADefesche, J. C.论文数: 0 引用数: 0 h-index: 0机构: Acad Med Ctr, Vasc Med, Amsterdam, Netherlands Stanford Univ, Pathol, Stanford, CA USAMata, P.论文数: 0 引用数: 0 h-index: 0机构: Spanish Familial Hypercholesterolemia Fdn, Madrid, Spain Stanford Univ, Pathol, Stanford, CA USASantos, R. D.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo & Hosp, Heart Inst Incor, Sao Paulo, Brazil Stanford Univ, Pathol, Stanford, CA USAKullo, I. J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Med, Rochester, MN USA Stanford Univ, Pathol, Stanford, CA USABrunham, L. R.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Med, Vancouver, BC, Canada Stanford Univ, Pathol, Stanford, CA USAHegele, R. A.论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Med, London, ON, Canada Stanford Univ, Pathol, Stanford, CA USAKnowles, J. W.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Med, Stanford, CA 94305 USA Stanford Univ, Pathol, Stanford, CA USABourbon, M.论文数: 0 引用数: 0 h-index: 0机构: Hlth Promot & Prevent Non Communicable Dis, Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, Portugal Stanford Univ, Pathol, Stanford, CA USA
- [8] ClinGen HHT Variant Curation Expert Panel's modified variant interpretation and classification guidelinesEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 742 - 742Demille, Desiree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:论文数: 引用数: h-index:机构:Thompson, Bryony论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Melbourne, Vic, Australia ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAMcDonald, Jamie论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Pathol, Salt, Jordan ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USABernabeu, Carmelo论文数: 0 引用数: 0 h-index: 0机构: CSIC, Ctr Invest Biol Margarita Salas, Madrid, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USADupuis-Girod, Sophie论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Bron, France ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAGanguly, Arupa论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Genet, Philadelphia, PA USA ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAGiraud, Sophie论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Bron, France ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAIchikawa, Shoji论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Dept Clin Diagnost, San Francisco, CA USA ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAJessen, Jaime论文数: 0 引用数: 0 h-index: 0机构: Impact Genet, Brampton, ON, Canada ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAJovine, Luca论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Biosci & Nutr, Huddinge, Sweden ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAKasthuri, Raj论文数: 0 引用数: 0 h-index: 0机构: UNC Sch Med, Dept Med, Chapel Hill, NC USA ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAOlivieri, Carla论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Mol Med, Pavia, Italy ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAvan Amstel, Johannes Kristian Ploos论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Utrecht, Netherlands ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USARacher, Hilary论文数: 0 引用数: 0 h-index: 0机构: Impact Genet, Brampton, ON, Canada ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAShovlin, Claire论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, London, England ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USABayrak-Toydemir, Pinar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, Jordan ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA
- [9] ClinGen HHT Variant Curation Expert Panel's Modified Variant Interpretation and Classification GuidelinesANGIOGENESIS, 2023, 26 (01) : S18 - S18DeMille, 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:Bernabeu, C.论文数: 0 引用数: 0 h-index: 0机构: CSIC, Ctr Invest Biol Margarita Sala, Madrid, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain 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, Bron, France Grp Hosp Est, Genet Dept, Bron, France Grp Hosp Est, HHT Reference Ctr, 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, Genet Diagnost Lab, Philadelphia, PA 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, Bron, France Grp Hosp Est, Genet Dept, Bron, France Grp Hosp Est, HHT Reference Ctr, Bron, France ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAIchikawa, S.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Dept Clin Diagnost, Aliso Viejo, CA USA 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, Brampton, ON, Canada ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAJovine, L.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Bio Sci & Nutr, Blickagangen 16, SE-14183 Huddinge, Sweden ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAKasthuri, R. S.论文数: 0 引用数: 0 h-index: 0机构: UNC Sch Med, Div Hematol, Dept Med, 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, Gen Biol & Med Genet Unit, Dept Mol Med, 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, Div Lab Pharm & Biomed Genet, Dept Genet, Utrecht, Netherlands 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, Brampton, 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, Natl Heart & Lung Inst, London, England Imperial Coll Healthcare NHS Trust, Med, London, England 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
- [10] Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert PanelHUMAN MUTATION, 2022, 43 (08) : 1089 - 1096Kountouris, Petros论文数: 0 引用数: 0 h-index: 0机构: Cyprus Inst Neurol & Genet, Mol Genet Thalassaemia Dept, Nicosia, Cyprus Cyprus Sch Mol Med, Nicosia, Cyprus Cyprus Inst Neurol & Genet, Mol Genet Thalassaemia Dept, Nicosia, CyprusStephanou, Coralea论文数: 0 引用数: 0 h-index: 0机构: Cyprus Inst Neurol & Genet, Mol Genet Thalassaemia Dept, Nicosia, Cyprus Cyprus Inst Neurol & Genet, Mol Genet Thalassaemia Dept, Nicosia, CyprusLederer, Carsten W.论文数: 0 引用数: 0 h-index: 0机构: Cyprus Inst Neurol & Genet, Mol Genet Thalassaemia Dept, Nicosia, Cyprus Cyprus Sch Mol Med, Nicosia, Cyprus Cyprus Inst Neurol & Genet, Mol Genet Thalassaemia Dept, Nicosia, CyprusTraeger-Synodinos, Joanne论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, St Sophias Childrens Hosp, Med Genet Lab, Athens, Greece Cyprus Inst Neurol & Genet, Mol Genet Thalassaemia Dept, Nicosia, CyprusBento, Celeste论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Coimbra, Dept Haematol, Coimbra, Portugal Cyprus Inst Neurol & Genet, Mol Genet Thalassaemia Dept, Nicosia, CyprusHarteveld, Cornelis L.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Clin Genet LDGA, Med Ctr, Leiden, Netherlands Cyprus Inst Neurol & Genet, Mol Genet Thalassaemia Dept, Nicosia, CyprusFylaktou, Eirini论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, St Sophias Childrens Hosp, Med Genet Lab, Athens, Greece Cyprus Inst Neurol & Genet, Mol Genet Thalassaemia Dept, Nicosia, CyprusKoopmann, Tamara T.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Clin Genet LDGA, Med Ctr, Leiden, Netherlands Cyprus Inst Neurol & Genet, Mol Genet Thalassaemia Dept, Nicosia, CyprusHalim-Fikri, Hashim论文数: 0 引用数: 0 h-index: 0机构: Univ Sains Malaysia, Sch Med Sci, Gelugor, Malaysia Cyprus Inst Neurol & Genet, Mol Genet Thalassaemia Dept, Nicosia, CyprusMichailidou, Kyriaki论文数: 0 引用数: 0 h-index: 0机构: Cyprus Sch Mol Med, Nicosia, Cyprus Cyprus Inst Neurol & Genet, Biostat Unit, Nicosia, Cyprus Cyprus Inst Neurol & Genet, Mol Genet Thalassaemia Dept, Nicosia, CyprusNfonsam, Landry E.论文数: 0 引用数: 0 h-index: 0机构: Hamilton Hlth Sci, Hamilton Reg Lab Med Program, Hamilton, ON, Canada McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, Canada Cyprus Inst Neurol & Genet, Mol Genet Thalassaemia Dept, Nicosia, CyprusWaye, John S.论文数: 0 引用数: 0 h-index: 0机构: Hamilton Hlth Sci, Hamilton Reg Lab Med Program, Hamilton, ON, Canada McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, Canada Cyprus Inst Neurol & Genet, Mol Genet Thalassaemia Dept, Nicosia, CyprusZilfalil, Bin A.论文数: 0 引用数: 0 h-index: 0机构: Univ Sains Malaysia, Sch Med Sci, Gelugor, Malaysia Cyprus Inst Neurol & Genet, Mol Genet Thalassaemia Dept, Nicosia, Cyprus论文数: 引用数: h-index:机构: