共 50 条
- [1] Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variantsHUMAN MUTATION, 2021, 42 (03) : 223 - 236Fortuno, Cristina论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia论文数: 引用数: h-index:机构:Olivier, Magali论文数: 0 引用数: 0 h-index: 0机构: Int Agcy Res Canc, Lyon, France QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaPesaran, Tina论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA USA QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaMai, Phuong L.论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Med Ctr, Magee Womens Hosp, Pittsburgh, PA USA QIMR Berghofer Med Res Inst, Brisbane, Qld, Australiade Andrade, Kelvin C.论文数: 0 引用数: 0 h-index: 0机构: NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, 9609 Med Ctr Dr, Bethesda, MD 20892 USA QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaAttardi, Laura D.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Radiat Oncol, Stanford, CA 94305 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USA QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia论文数: 引用数: h-index:机构:Evans, D. Gareth论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Manchester, Lancs, England QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaFeng, Bing-Jian论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Salt Lake City, UT USA QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaForeman, Ann K. M.论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USA QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaFrone, Megan N.论文数: 0 引用数: 0 h-index: 0机构: NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, 9609 Med Ctr Dr, Bethesda, MD 20892 USA QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaHuether, Robert论文数: 0 引用数: 0 h-index: 0机构: Tempus, Chicago, IL USA QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaJames, Paul A.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Sir Peter MacCallum Dept Oncol, Melbourne, Vic, Australia QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaMcGoldrick, Kelly论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA USA QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaMester, Jessica论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaSeifert, Bryce A.论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC USA QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaSlavin, Thomas P.论文数: 0 引用数: 0 h-index: 0机构: City Hope Natl Med Ctr, Duarte, CA USA QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaWitkowski, Leora论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MD USA QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaZhang, Liying论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, 1275 York Ave, New York, NY 10021 USA QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaPlon, Sharon E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat Hematol Oncol, Houston, TX 77030 USA QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaSpurdle, Amanda B.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaSavage, Sharon A.论文数: 0 引用数: 0 h-index: 0机构: NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, 9609 Med Ctr Dr, Bethesda, MD 20892 USA QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia
- [2] Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variantsAMERICAN JOURNAL OF HUMAN GENETICS, 2024, 111 (11)Richardson, Marcy E.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USAHoldren, Megan论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55906 USA Ambry Genet, Aliso Viejo, CA 92656 USABrannan, Terra论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USAde la Hoya, Miguel论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin San Carlos, Mol Oncol Lab, IdISSC, E-28040 Madrid, Spain Ambry Genet, Aliso Viejo, CA 92656 USASpurdle, Amanda B.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Brisbane, Qld 4006, Australia Ambry Genet, Aliso Viejo, CA 92656 USAV. Tavtigian, Sean论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Oncol Sci, Salt Lake City, UT USA Ambry Genet, Aliso Viejo, CA 92656 USAYoung, Colin C.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USAZec, Lauren论文数: 0 引用数: 0 h-index: 0机构: Natera Inc, San Carlos, CA USA Ambry Genet, Aliso Viejo, CA 92656 USAHiraki, Susan论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Ambry Genet, Aliso Viejo, CA 92656 USAAnderson, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Invitae Corp, San Francisco, CA USA Ambry Genet, Aliso Viejo, CA 92656 USAWalker, Logan C.论文数: 0 引用数: 0 h-index: 0机构: Univ Otago, Dept Pathol & Biomed Sci, Christchurch, New Zealand Ambry Genet, Aliso Viejo, CA 92656 USAMcnulty, Shannon论文数: 0 引用数: 0 h-index: 0机构: Univ Otago, Dept Pathol & Biomed Sci, Christchurch, New Zealand Ambry Genet, Aliso Viejo, CA 92656 USATurnbull, Clare论文数: 0 引用数: 0 h-index: 0机构: Inst Canc Res, Div Genet & Epidemiol, London, England Ambry Genet, Aliso Viejo, CA 92656 USATischkowitz, Marc论文数: 0 引用数: 0 h-index: 0机构: Cambridge Biomed Res Ctr, Natl Inst Hlth Res, Cambridge Biomed Res Ctr, Cambridge, England Ambry Genet, Aliso Viejo, CA 92656 USASchon, Katherine论文数: 0 引用数: 0 h-index: 0机构: Cambridge Biomed Res Ctr, Natl Inst Hlth Res, Cambridge Biomed Res Ctr, Cambridge, England Ambry Genet, Aliso Viejo, CA 92656 USASlavin, Thomas论文数: 0 引用数: 0 h-index: 0机构: City Hope Comprehens Canc Ctr, Duarte, CA USA Ambry Genet, Aliso Viejo, CA 92656 USAFoulkes, William D.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ, Canada Ambry Genet, Aliso Viejo, CA 92656 USACline, Melissa论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Santa Cruz, Genom Inst, Mail Stop Genom, Santa Cruz, CA USA Ambry Genet, Aliso Viejo, CA 92656 USAMonteiro, Alvaro N.论文数: 0 引用数: 0 h-index: 0机构: H Lee Moffitt Canc Ctr & Res Inst, Dept Canc Epidemiol, Tampa, FL USA Ambry Genet, Aliso Viejo, CA 92656 USAPesaran, Tina论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USACouch, Fergus J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55906 USA Ambry Genet, Aliso Viejo, CA 92656 USA
- [3] Tailoring the ACMG/AMP sequence variant interpretation guidelines to the unique aspects of germline ACADVL variantsMOLECULAR GENETICS AND METABOLISM, 2021, 132 : S254 - S254Flowers, May论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Chapel Hill, NC 27515 USA Univ N Carolina, Chapel Hill, NC 27515 USAWeaver, Meredith论文数: 0 引用数: 0 h-index: 0机构: Amer Coll Med Genet & Genom, Bethesda, MD USA Univ N Carolina, Chapel Hill, NC 27515 USABaudet, Heather论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Chapel Hill, NC 27515 USA Univ N Carolina, Chapel Hill, NC 27515 USAPasquali, Marzia论文数: 0 引用数: 0 h-index: 0机构: ARUP Labs, Salt Lake City, UT USA Univ Utah, Salt Lake City, UT USA Univ N Carolina, Chapel Hill, NC 27515 USAEnns, Gregory论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Stanford, CA 94305 USA Univ N Carolina, Chapel Hill, NC 27515 USAFeigenbaum, Annette论文数: 0 引用数: 0 h-index: 0机构: Rady Childrens Hosp, San Diego, CA USA Univ Calif San Diego, San Diego, CA 92103 USA Univ N Carolina, Chapel Hill, NC 27515 USALyon, Elaine论文数: 0 引用数: 0 h-index: 0机构: HudsonAlpha Inst Biotechnol, Huntsville, AL USA Univ N Carolina, Chapel Hill, NC 27515 USA论文数: 引用数: h-index:机构:Graham, Brett论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ, Indianapolis, IN 46204 USA Univ N Carolina, Chapel Hill, NC 27515 USASpector, Elaine论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Colorado, Aurora, CO USA Univ Colorado, Aurora, CO USA Univ N Carolina, Chapel Hill, NC 27515 USARacacho, Lemuel论文数: 0 引用数: 0 h-index: 0机构: Alberta Precis Labs, Calgary, AB, Canada Univ N Carolina, Chapel Hill, NC 27515 USAMcLachlan, Michael论文数: 0 引用数: 0 h-index: 0机构: FUJIFILM Cellular Dynam, Madison, WI USA Univ N Carolina, Chapel Hill, NC 27515 USASadre-Bazzaz, Kianoush论文数: 0 引用数: 0 h-index: 0机构: ARUP Labs, Salt Lake City, UT USA Univ Utah, Salt Lake City, UT USA Univ N Carolina, Chapel Hill, NC 27515 USAHarris, Heather论文数: 0 引用数: 0 h-index: 0机构: Ancestry, Lehi, UT USA Univ N Carolina, Chapel Hill, NC 27515 USAWang, Yang论文数: 0 引用数: 0 h-index: 0机构: PerkinElmer Genet, Pittsburgh, PA USA Univ N Carolina, Chapel Hill, NC 27515 USADickson, Alexa论文数: 0 引用数: 0 h-index: 0机构: ARUP Labs, Salt Lake City, UT USA Univ Utah, Salt Lake City, UT USA Univ N Carolina, Chapel Hill, NC 27515 USAMao, Rong论文数: 0 引用数: 0 h-index: 0机构: ARUP Labs, Salt Lake City, UT USA Univ Utah, Salt Lake City, UT USA Univ N Carolina, Chapel Hill, NC 27515 USA
- [4] Specifications of the ACMG/AMP variant interpretation guidelines for germline POLE and POLD1 variantsEUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 423 - 423Mur, Pilar论文数: 0 引用数: 0 h-index: 0机构: Catalan Inst Oncol, Hereditary Canc Program, Oncobell Program, IDIBELL, Barcelona, Spain Ctr Invest Biomed Red Canc CIBERONC, Madrid, Spain Catalan Inst Oncol, Hereditary Canc Program, Oncobell Program, IDIBELL, Barcelona, SpainEzquerro, Elsa论文数: 0 引用数: 0 h-index: 0机构: Catalan Inst Oncol, Hereditary Canc Program, Oncobell Program, IDIBELL, Barcelona, Spain Catalan Inst Oncol, Hereditary Canc Program, Oncobell Program, IDIBELL, Barcelona, SpainGarcia-Mulero, Sandra论文数: 0 引用数: 0 h-index: 0机构: Catalan Inst Oncol, Canc Prevent & Control Program, Unit Biomarkers & Susceptibil, Oncobell Program,IDIBELL, Barcelona, Spain Ctr Invest Biomed Red Epidemiol & Salud Publ CIBE, Madrid, Spain Catalan Inst Oncol, Hereditary Canc Program, Oncobell Program, IDIBELL, Barcelona, SpainMagraner-Pardo, Lorena论文数: 0 引用数: 0 h-index: 0机构: Spanish Natl Canc Res Ctr CNIO, Prostate Canc Clin Res Unit, Madrid, Spain Catalan Inst Oncol, Hereditary Canc Program, Oncobell Program, IDIBELL, Barcelona, SpainPineda, Marta论文数: 0 引用数: 0 h-index: 0机构: Catalan Inst Oncol, Hereditary Canc Program, Oncobell Program, IDIBELL, Barcelona, Spain Ctr Invest Biomed Red Canc CIBERONC, Madrid, Spain Catalan Inst Oncol, Hereditary Canc Program, Oncobell Program, IDIBELL, Barcelona, SpainFeliubadalo, Lidia论文数: 0 引用数: 0 h-index: 0机构: Catalan Inst Oncol, Hereditary Canc Program, Oncobell Program, IDIBELL, Barcelona, Spain Ctr Invest Biomed Red Canc CIBERONC, Madrid, Spain Catalan Inst Oncol, Hereditary Canc Program, Oncobell Program, IDIBELL, Barcelona, SpainCapella, Gabriel论文数: 0 引用数: 0 h-index: 0机构: Catalan Inst Oncol, Hereditary Canc Program, Oncobell Program, IDIBELL, Barcelona, Spain Ctr Invest Biomed Red Canc CIBERONC, Madrid, Spain Catalan Inst Oncol, Hereditary Canc Program, Oncobell Program, IDIBELL, Barcelona, SpainSanz, Rebeca论文数: 0 引用数: 0 h-index: 0机构: Catalan Inst Oncol, Canc Prevent & Control Program, Unit Biomarkers & Susceptibil, Oncobell Program,IDIBELL, Barcelona, Spain Ctr Invest Biomed Red Epidemiol & Salud Publ CIBE, Madrid, Spain Catalan Inst Oncol, Hereditary Canc Program, Oncobell Program, IDIBELL, Barcelona, SpainLazaro, Conxi论文数: 0 引用数: 0 h-index: 0机构: Catalan Inst Oncol, Hereditary Canc Program, Oncobell Program, IDIBELL, Barcelona, Spain Catalan Inst Oncol, Hereditary Canc Program, Oncobell Program, IDIBELL, Barcelona, SpainPons, Tirso论文数: 0 引用数: 0 h-index: 0机构: Spanish Natl Res Council, Natl Ctr Biotechnol CNB CSIC, Dept Immunol & Oncol, Madrid, Spain Catalan Inst Oncol, Hereditary Canc Program, Oncobell Program, IDIBELL, Barcelona, SpainValle, Laura论文数: 0 引用数: 0 h-index: 0机构: Catalan Inst Oncol, Hereditary Canc Program, Oncobell Program, IDIBELL, Barcelona, Spain Ctr Invest Biomed Red Canc CIBERONC, Madrid, Spain Catalan Inst Oncol, Hereditary Canc Program, Oncobell Program, IDIBELL, Barcelona, Spain
- [5] An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variantsGENETICS IN MEDICINE, 2016, 18 (11) : 1165 - 1165Kleinberger, Jeffrey论文数: 0 引用数: 0 h-index: 0机构: Univ Maryland, Sch Med, Dept Med, Div Endocrinol Diabet & Nutr,Program Personalized, Baltimore, MD 21201 USA Univ Maryland, Sch Med, Dept Med, Div Endocrinol Diabet & Nutr,Program Personalized, Baltimore, MD 21201 USAMaloney, Kristin A.论文数: 0 引用数: 0 h-index: 0机构: Univ Maryland, Sch Med, Dept Med, Div Endocrinol Diabet & Nutr,Program Personalized, Baltimore, MD 21201 USA Univ Maryland, Sch Med, Dept Med, Div Endocrinol Diabet & Nutr,Program Personalized, Baltimore, MD 21201 USAPollin, Toni I.论文数: 0 引用数: 0 h-index: 0机构: Univ Maryland, Sch Med, Dept Med, Div Endocrinol Diabet & Nutr,Program Personalized, Baltimore, MD 21201 USA Univ Maryland, Sch Med, Dept Med, Div Endocrinol Diabet & Nutr,Program Personalized, Baltimore, MD 21201 USAJeng, Linda Jo Bone论文数: 0 引用数: 0 h-index: 0机构: Univ Maryland, Sch Med, Dept Med, Div Endocrinol Diabet & Nutr,Program Personalized, Baltimore, MD 21201 USA Univ Maryland, Sch Med, Dept Med, Div Endocrinol Diabet & Nutr,Program Personalized, Baltimore, MD 21201 USA
- [6] Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variantsHUMAN MUTATION, 2018, 39 (11) : 1553 - 1568Lee, 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 USAKrempely, Kate论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USARoberts, Maegan E.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAAnderson, Michael J.论文数: 0 引用数: 0 h-index: 0机构: InvitaeCorp, San Francisco, CA USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USACarneiro, Fatima论文数: 0 引用数: 0 h-index: 0机构: Univ Porto, i3S, Porto, Portugal Univ Porto, Ipatimup, Inst Mol Pathol & Immunol, Porto, Portugal Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAChao, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Univ Calif Irvine, Irvine, CA USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USADixon, Katherine论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA论文数: 引用数: h-index:机构:Ghosh, Rajarshi论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAHuntsman, David论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAKaurah, Pardeep论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAKesserwan, Chimene论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USALandrith, Tyler论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USALi, Shuwei论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAMensenkamp, Arjen R.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA论文数: 引用数: h-index:机构:Pardo, Carolina论文数: 0 引用数: 0 h-index: 0机构: InvitaeCorp, San Francisco, CA USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAPesaran, Tina论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USARichardson, Matthew论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USASlavin, Thomas P.论文数: 0 引用数: 0 h-index: 0机构: City Hope Natl Med Ctr, Dept Med Oncol & Therapeut Res, Duarte, CA USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USASpurdle, Amanda B.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USATrapp, Mackenzie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 USAWitkowski, Leora论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAYi, Charles S.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAZhang, Liying论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, Memorial Sloan Kettering, 1275 York Ave, New York, NY 10021 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAPlon, Sharon E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USASchrader, Kasmintan A.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAKaram, Rachid论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA
- [7] Evaluation of the pathogenic potential of germline DDX41 variants in hematopoietic neoplasms using the ACMG/AMP guidelinesINTERNATIONAL JOURNAL OF HEMATOLOGY, 2024, 119 (05) : 552 - 563Matsui, Hirotaka论文数: 0 引用数: 0 h-index: 0机构: Natl Canc Ctr, Dept Lab Med, 5-1-1 Tsukiji,Chuo Ku, Tokyo 1040045, Japan Kumamoto Univ, Grad Sch Med & Pharmaceut Sci, Dept Med Oncol & Translat Res, Kumamoto, Japan Natl Canc Ctr, Dept Lab Med, 5-1-1 Tsukiji,Chuo Ku, Tokyo 1040045, JapanHirata, Makoto论文数: 0 引用数: 0 h-index: 0机构: Natl Canc Ctr, Dept Genet Med & Serv, Tokyo, Japan Natl Canc Ctr, Dept Lab Med, 5-1-1 Tsukiji,Chuo Ku, Tokyo 1040045, Japan
- [8] Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variantsEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 (11) : 1237 - 1250Haghighi, Alireza论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA Harvard Med Sch, Brigham & Womens Hosp, Dept Med, Div Cardiovasc Med, Boston, MA 02115 USA Harvard Med Sch, Dept Genet, Boston, MA 02115 USA Brigham & Womens Hosp, Howard Hughes Med Inst, Boston, MA 02115 USA Broad Inst & Harvard, Cambridge, MA 02142 USA Harvard Med Sch, Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAAlvandi, Zahra论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Dept Surg, Boston, MA 02115 USA Boston Childrens Hosp, Vasc Biol Program, Boston, MA 02115 USA Harvard Med Sch, Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA论文数: 引用数: h-index:机构:Haghighi, Amirreza论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Brigham & Womens Hosp, Dept Med, Boston, MA 02115 USA Harvard Med Sch, Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAKornreich, Ruth论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY USA Harvard Med Sch, Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USANafissi, Shahriar论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Shariati Hosp, Neuromuscular Res Ctr, Dept Neurol, Tehran, Iran Harvard Med Sch, Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USADesnick, Robert J.论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY USA Harvard Med Sch, Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA
- [9] Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variantsEuropean Journal of Human Genetics, 2023, 31 : 1237 - 1250Alireza Haghighi论文数: 0 引用数: 0 h-index: 0机构: Brigham and Women’s Hospital,Division of Genetics, Department of MedicineZahra Alvandi论文数: 0 引用数: 0 h-index: 0机构: Brigham and Women’s Hospital,Division of Genetics, Department of MedicineYalda Nilipour论文数: 0 引用数: 0 h-index: 0机构: Brigham and Women’s Hospital,Division of Genetics, Department of MedicineAmirreza Haghighi论文数: 0 引用数: 0 h-index: 0机构: Brigham and Women’s Hospital,Division of Genetics, Department of MedicineRuth Kornreich论文数: 0 引用数: 0 h-index: 0机构: Brigham and Women’s Hospital,Division of Genetics, Department of MedicineShahriar Nafissi论文数: 0 引用数: 0 h-index: 0机构: Brigham and Women’s Hospital,Division of Genetics, Department of MedicineRobert J. Desnick论文数: 0 引用数: 0 h-index: 0机构: Brigham and Women’s Hospital,Division of Genetics, Department of Medicine
- [10] Impact of implementing customized ACMG/AMP variant interpretation guidelines to the BTD databaseMOLECULAR GENETICS AND METABOLISM, 2021, 132 : S3 - S3Mills, Maria论文数: 0 引用数: 0 h-index: 0机构: ARUP Labs, Salt Lake City, UT USA ARUP Labs, Salt Lake City, UT USACoupal, Elena论文数: 0 引用数: 0 h-index: 0机构: ARUP Labs, Salt Lake City, UT USA ARUP Labs, Salt Lake City, UT USACone, Kelsey论文数: 0 引用数: 0 h-index: 0机构: ARUP Labs, Salt Lake City, UT USA ARUP Labs, Salt Lake City, UT USAProcter, Melinda论文数: 0 引用数: 0 h-index: 0机构: ARUP Labs, Salt Lake City, UT USA ARUP Labs, Salt Lake City, UT USAPont-Kingdon, Genevieve论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, ARUP Labs, Salt Lake City, UT 84112 USA ARUP Labs, Salt Lake City, UT USAMao, Rong论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, ARUP Labs, Salt Lake City, UT 84112 USA ARUP Labs, Salt Lake City, UT USA