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- [42] Clingen Coagulation Factor Deficiency Variant Curation Expert Panel: Meeting the Need for Recommendations to Curate Variants in the Coagulation Factor GenesBLOOD, 2019, 134Mohan, Shruthi论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USALee, Kristy论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USACarcao, Manuel论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Haematol Oncol, Toronto, ON, Canada Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USADoshi, Bhavya S.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Pediat, Philadelphia, PA 19104 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USADownes, Kate论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge, England Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAKemball-Cook, Geoff论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USALeebeek, Frank论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Rotterdam, Netherlands Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAMcCreery, Jamie论文数: 0 引用数: 0 h-index: 0机构: BloodCtr Wisconsin, Part Versiti, Milwaukee, WI USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAMiller, Connie H.论文数: 0 引用数: 0 h-index: 0机构: Ctr Dis Control & Prevent, Div Blood Disorders, Natl Ctr Birth Defects & Dev Disabil, Atlanta, GA USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAPayne, Amanda B.论文数: 0 引用数: 0 h-index: 0机构: Ctr Dis Control & Prevent, Div Blood Disorders, Natl Ctr Birth Defects & Dev Disabil, Atlanta, GA USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USATrapp-Stamborski, Valerie论文数: 0 引用数: 0 h-index: 0机构: BloodCtr Wisconsin, Part Versiti, Milwaukee, WI USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAKonkle, Barbara A.论文数: 0 引用数: 0 h-index: 0机构: Bloodworks Northwest, Seattle, WA USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAGomez, Keith论文数: 0 引用数: 0 h-index: 0机构: Royal Free London NHS Fdn Trust, London, England Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA
- [43] Challenges and Results of ClinGen Gene-Disease Clinical Validity Curation for Complement-Mediated Kidney DiseaseJOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2024, 35 (10):Wongboonsin, Janewit论文数: 0 引用数: 0 h-index: 0机构: Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USA Mahidol Univ, Siriraj Hosp, Fac Med, Bangkok, Thailand Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USAWebb, Ryan Fraser论文数: 0 引用数: 0 h-index: 0机构: Broad Inst, Cambridge, MA USA Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USARobertson, Pamela A.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst, Cambridge, MA USA Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USAByrne, Alicia B.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst, Cambridge, MA USA Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USACaliskan, Yasar论文数: 0 引用数: 0 h-index: 0机构: St Louis Univ, St Louis, MO 63103 USA Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USAJava, Anuja论文数: 0 引用数: 0 h-index: 0机构: Washington Univ St Louis, St Louis, MO USA Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USA论文数: 引用数: h-index:机构:
- [44] Specifications of ACMG/AMP Variant Curation Guidelines for the Analysis of FOXN1 Sequence Variants: Recommendations by ClinGen's Severe Combined Immunodeficiency Disease Variant Curation Expert PanelCLINICAL IMMUNOLOGY, 2024, 262Ross, Justyne论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Chapel Hill, NC USA Univ N Carolina, Chapel Hill, NC USAMcLean, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Chapel Hill, NC USA Univ N Carolina, Chapel Hill, NC USALeon-Lozano, Grace论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Chapel Hill, NC USA Univ N Carolina, Chapel Hill, NC USAJacovas, Vanessa论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Boston, MA USA Univ N Carolina, Chapel Hill, NC USAZelnick, Michelle论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Boston, MA USA Univ N Carolina, Chapel Hill, NC USAChan, Alice论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, San Francisco, CA USA Univ N Carolina, Chapel Hill, NC USAvan Oers, Nicolai论文数: 0 引用数: 0 h-index: 0机构: UT SouthWestern Med Ctr, Dallas, TX USA Univ N Carolina, Chapel Hill, NC USAJohnson, Britt论文数: 0 引用数: 0 h-index: 0机构: Invitae Corp, San Francisco, CA USA Univ N Carolina, Chapel Hill, NC USAChinn, Ivan论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Boston, MA USA Univ N Carolina, Chapel Hill, NC USA
- [45] Application and Lessons Learned from Curating 100 Somatic Cancer Variants Using the ClinGen/CGC/VICC Guidelines in a Pediatric Hospital SettingJOURNAL OF MOLECULAR DIAGNOSTICS, 2024, 26 (11): : S78 - S78Goar, W.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Columbus, OH USA Nationwide Childrens Hosp, Columbus, OH USAWagner, A.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Columbus, OH USA Nationwide Childrens Hosp, Columbus, OH USAKuzma, K.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Columbus, OH USA Nationwide Childrens Hosp, Columbus, OH USAStahl, K.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Columbus, OH USA Nationwide Childrens Hosp, Columbus, OH USAMcCarrick, M.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Columbus, OH USA Nationwide Childrens Hosp, Columbus, OH USASchieffer, K.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Columbus, OH USA Ohio State Univ, Columbus, OH USA Nationwide Childrens Hosp, Columbus, OH USACottrell, C.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Columbus, OH USA Ohio State Univ, Columbus, OH USA Nationwide Childrens Hosp, Columbus, OH USAMardis, E.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Columbus, OH USA Ohio State Univ, Columbus, OH USA Nationwide Childrens Hosp, Columbus, OH USA
- [46] ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescentsGENETICS IN MEDICINE, 2022, 24 (06) : 1328 - 1335Hunter, Jessica Ezzell论文数: 0 引用数: 0 h-index: 0机构: RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USA RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USAJenkins, Charisma L.论文数: 0 引用数: 0 h-index: 0机构: Kaiser Permanente Ctr Hlth Res, Dept Translat & Appl Genom TAG, Portland, OR USA RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USABulkley, Joanna E.论文数: 0 引用数: 0 h-index: 0机构: Kaiser Permanente Ctr Hlth Res, Dept Translat & Appl Genom TAG, Portland, OR USA RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USAGilmore, Marian J.论文数: 0 引用数: 0 h-index: 0机构: Kaiser Permanente Ctr Hlth Res, Dept Translat & Appl Genom TAG, Portland, OR USA RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USALee, Kristy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 RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USAPak, Christine M.论文数: 0 引用数: 0 h-index: 0机构: Kaiser Permanente Ctr Hlth Res, Dept Translat & Appl Genom TAG, Portland, OR USA RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USAWallace, Kathleen E.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 RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USABuchanan, Adam H.论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Genom Med Inst, Danville, PA USA RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USAForeman, Ann Katherine M.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 RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USAFreed, Amanda S.论文数: 0 引用数: 0 h-index: 0机构: Kaiser Permanente Bernard J Tyson Sch Med, Dept Clin Sci, Pasadena, CA USA RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USAGoehringer, Scott论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Genom Med Inst, Danville, PA USA RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USAManickam, Kandamurugu论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Dept Pediat, Div Genet & Genom Med, Columbus, OH USA Ohio State Univ, Coll Med, Columbus, OH 43210 USA RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USAMeeks, Naomi J. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Sch Med, Dept Pediat, Sect Genet & Metab, Anschutz Med Campus, Aurora, CO USA RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USARamos, Erin M.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Div Genom Med, NIH, Bethesda, MD 20892 USA RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USAShah, Neethu论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USASteiner, Robert D.论文数: 0 引用数: 0 h-index: 0机构: Univ Wisconsin, Sch Med & Publ Hlth, Madison, WI USA RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USASubramanian, Sai Lakshmi论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USATrotter, Tracy论文数: 0 引用数: 0 h-index: 0机构: John Muir Hlth, Walnut Creek, CA USA RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USAWebber, Elizabeth M.论文数: 0 引用数: 0 h-index: 0机构: Kaiser Permanente Ctr Hlth Res, Portland, OR USA RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USAWilliams, Marc S.论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Genom Med Inst, Danville, PA USA RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USAGoddard, Katrina A. B.论文数: 0 引用数: 0 h-index: 0机构: Kaiser Permanente Ctr Hlth Res, Dept Translat & Appl Genom TAG, Portland, OR USA RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USAPowell, Bradford C.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 RTI Int, Genom Eth & Translat Res Program, Res Triangle Pk, NC USA
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Synd, Nijmegen, Netherlands Catalan Inst Oncol, Oncobell, IDIBELL, Hereditary Canc Program, Barcelona, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Canc CIBERONC, Madrid, Spain Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyLaner, Andreas论文数: 0 引用数: 0 h-index: 0机构: MGZ Munich, Med Genet Ctr Munich, Munich, Germany Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyRitter, Deborah论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX USA Texas Childrens Hosp, Texas Childrens Canc Ctr, Houston, TX USA Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyBoyle, Julie论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Dept Oncol Sci, Salt Lake City, UT USA Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyMur, Pilar论文数: 0 引用数: 0 h-index: 0机构: Catalan Inst Oncol, Oncobell, IDIBELL, Hereditary Canc Program, Barcelona, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Canc CIBERONC, Madrid, Spain Univ Bonn, Inst Human Genet, Med Fac, Bonn, Germany论文数: 引用数: h-index:机构:Shi, Xuemei论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC USA Univ Bonn, Inst Human Genet, Med Fac, Bonn, Germany论文数: 引用数: h-index:机构:Plazzer, John-Paul论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Dept Colorectal Med & Genet, Parkville, Vic, Australia Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyOgnedal, Elisabet论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Bergen, Norway Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyNordling, Margareta论文数: 0 引用数: 0 h-index: 0机构: Linkoping Univ, Dept Biomed & Clin Sci, Linkoping, Sweden Linkoping Univ Hosp, Dept Clin Genet, Linkoping, Sweden Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyFarrington, Susan M.论文数: 0 引用数: 0 h-index: 0机构: Univ Edinburgh, Canc Res UK Edinburgh Ctr, Edinburgh, Midlothian, Scotland Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyYamamoto, Gou论文数: 0 引用数: 0 h-index: 0机构: Saitama Canc Ctr, Dept Mol Diag & Canc Prevent, Saitama, Japan Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyBaert-Desurmont, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Rouen Univ Hosp, Dept Genet, Rouen, France Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyMartins, Alexandra论文数: 0 引用数: 0 h-index: 0机构: Rouen Univ Hosp, Dept Genet, Rouen, France Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyBorras, Ester论文数: 0 引用数: 0 h-index: 0机构: Invitae, San Francisco, CA USA Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyTops, Carli论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyWebb, Erica论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyBeshay, Victoria论文数: 0 引用数: 0 h-index: 0机构: Peter MacCallum Canc Ctr, Melbourne, Vic, Australia Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyGenuardi, Maurizio论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Fdn Policlin Univ A Gemelli IRCCS, Rome, Italy Univ Cattolica Sacro Cuore, Dipartimento Sci Vita & Sanita Pubbl, Rome, Italy Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyPesaran, Tina论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA USA Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyCapella, Gabriel论文数: 0 引用数: 0 h-index: 0机构: European Reference Network Genet Tumour Risk Synd, Nijmegen, Netherlands Catalan Inst Oncol, Oncobell, IDIBELL, Hereditary Canc Program, Barcelona, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Canc CIBERONC, Madrid, Spain Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyTavtigian, Sean, V论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Dept Oncol Sci, Salt Lake City, UT USA Univ Utah, Huntsman Canc Inst, Salt Lake City, UT USA Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyLatchford, Andrew论文数: 0 引用数: 0 h-index: 0机构: St Marks Hosp, Polyposis Registry, London, England Imperial Coll London, Dept Surg & Canc, London, England Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyFrayling, Ian M.论文数: 0 引用数: 0 h-index: 0机构: St Marks Hosp, Polyposis Registry, London, England Cardiff Univ, Inst Canc & Genet, Inherited Tumour Syndromes Res Grp, Cardiff, Wales Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyPlon, Sharon E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX USA Texas Childrens Hosp, Texas Childrens Canc Ctr, Houston, TX USA Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyGreenblatt, Marc论文数: 0 引用数: 0 h-index: 0机构: Univ Vermont, Larner Coll Med, Burlington, VT USA Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyMacrae, Finlay A.论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Dept Colorectal Med & Genet, Parkville, Vic, Australia Univ Melbourne, Dept Med, Parkville, Vic, Australia Univ Bonn, Inst Human Genet, Med Fac, Bonn, GermanyAretz, Stefan论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Med Fac, Bonn, Germany Univ Hosp Bonn, Natl Ctr Hereditary Tumor Syndromes, Bonn, Germany European Reference Network Genet Tumour Risk Synd, Nijmegen, Netherlands Univ Bonn, Inst Human Genet, Med Fac, Bonn, Germany
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