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- [21] ClinGen Sequence Variant Interpretation Work Group recommendations for ACMG-AMP guideline specificationEUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 95 - 96Harrison, S. M.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Cambridge, MA USA Partners HealthCare Lab Mol Med, Cambridge, MA USA Harvard Med Sch, Cambridge, MA USARehm, H.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Cambridge, MA USA Partners HealthCare Lab Mol Med, Cambridge, MA USA Harvard Med Sch, Cambridge, MA USAGreenblatt, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Vermont, Robert Larner MD Coll Med Coll, Burlington, VT USA Harvard Med Sch, Cambridge, MA USABiesecker, L. G.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA Harvard Med Sch, Cambridge, MA USA
- [22] Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing lossGENETICS IN MEDICINE, 2021, 23 (11) : 2208 - 2212Patel, Mayher J.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USADiStefano, Marina T.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Geisinger, Precis Hlth Program, Danville, PA USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USAOza, Andrea M.论文数: 0 引用数: 0 h-index: 0机构: Mass Gen Brigham Personalized Med, Lab Mol Med, Cambridge, MA USA Boston Childrens Hosp, Dept Otolaryngol & Commun Enhancement, Boston, MA USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USAHughes, Madeline Y.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USAWilcox, Emma H.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USAHemphill, Sarah E.论文数: 0 引用数: 0 h-index: 0机构: Mass Gen Brigham Personalized Med, Lab Mol Med, Cambridge, MA USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USACushman, Brandon J.论文数: 0 引用数: 0 h-index: 0机构: Mass Gen Brigham Personalized Med, Lab Mol Med, Cambridge, MA USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USAGrant, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USASiegert, Rebecca K.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USAShen, Jun论文数: 0 引用数: 0 h-index: 0机构: Mass Gen Brigham Personalized Med, Lab Mol Med, Cambridge, MA USA Harvard Med Sch, Boston, MA 02115 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USAChapin, Alex论文数: 0 引用数: 0 h-index: 0机构: ARUP Labs, Salt Lake City, UT USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USABoczek, Nicole J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USASchimmenti, Lisa A.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Otorhinolaryngol Clin Genom & Biochem & Mol, Rochester, MN USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USANara, Kiyomitsu论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Org, Natl Inst Sensory Organs, Div Hearing & Balance Res, Tokyo Med Ctr, Tokyo, Japan Broad Inst MIT & Harvard, Cambridge, MA 02142 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 Broad Inst MIT & Harvard, Cambridge, MA 02142 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 Broad Inst MIT & Harvard, Cambridge, MA 02142 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 Harvard Med Sch, Dept Neurobiol, Boston, MA 02115 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USAAvraham, Karen B.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Fac Med, Dept Human Mol Genet & Biochem, Tel Aviv, Israel Tel Aviv Univ, Sagol Sch Neurosci, Tel Aviv, Israel Broad Inst MIT & Harvard, Cambridge, MA 02142 USAKremer, Hannie论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Broad Inst MIT & Harvard, Cambridge, MA 02142 USAGriffith, Andrew J.论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, Coll Med, Hlth Sci Ctr, Dept Otolaryngol Head Neck Surg, Memphis, TN USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USARehm, Heidi L.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Mass Gen Brigham Personalized Med, Lab Mol Med, Cambridge, MA USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USAAmr, Sami S.论文数: 0 引用数: 0 h-index: 0机构: Mass Gen Brigham Personalized Med, Lab Mol Med, Cambridge, MA USA Harvard Med Sch, Boston, MA 02115 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USAAbou Tayoun, Ahmad N.论文数: 0 引用数: 0 h-index: 0机构: AI Jalila Childrens Specialty Hosp, AI Genom Ctr, Dubai, U Arab Emirates Mohammed Bin Rashid Univ Med & Hlth Sci, Ctr Genom Discovery, Dubai, U Arab Emirates Broad Inst MIT & Harvard, Cambridge, MA 02142 USA
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- [24] Guideline for interpretation of proteomics data as functional evidence (PS3) in the context of the ACMG/AMP sequence variant interpretation frameworkEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 63 - 63Peymani, Fatemeh论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Sch Med, Munich, Germany Helmholtz Munchen, Inst Neurogenom, Computat Hlth Ctr, Munich, Germany Tech Univ Munich, Inst Human Genet, Sch Med, Munich, GermanySmirnov, Dmitrii论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Sch Med, Munich, Germany Helmholtz Munchen, Inst Neurogenom, Computat Hlth Ctr, Munich, Germany Tech Univ Munich, Inst Human Genet, Sch Med, Munich, GermanyKopajtich, Robert论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Sch Med, Munich, Germany Helmholtz Munchen, Inst Neurogenom, Computat Hlth Ctr, Munich, Germany Tech Univ Munich, Inst Human Genet, Sch Med, Munich, GermanyBerutti, Riccardo论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Sch Med, Munich, Germany Helmholtz Munchen, Inst Neurogenom, Computat Hlth Ctr, Munich, Germany Tech Univ Munich, Inst Human Genet, Sch Med, Munich, GermanyLudwig, Christina论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, TUM Sch Life Sci, Bavarian Ctr Biomol Mass Spectrometry, Freising Weihenstephan, Germany Tech Univ Munich, Inst Human Genet, Sch Med, Munich, GermanyNeuhofer, Christiane论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Sch Med, Munich, Germany Helmholtz Munchen, Inst Neurogenom, Computat Hlth Ctr, Munich, Germany Tech Univ Munich, Inst Human Genet, Sch Med, Munich, GermanyMeitinger, Thomas论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Sch Med, Munich, Germany Tech Univ Munich, Inst Human Genet, Sch Med, Munich, GermanyProkisch, Holger论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Sch Med, Munich, Germany Helmholtz Munchen, Inst Neurogenom, Computat Hlth Ctr, Munich, Germany Tech Univ Munich, Inst Human Genet, Sch Med, Munich, Germany
- [25] Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variantsGENETICS IN MEDICINE, 2020, 22 (02) : 336 - 344Brandt, Tracy论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USASack, Laura M.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USAArjona, Dolores论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USATan, Duanjun论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USAMei, Hui论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USACui, Hong论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USAGao, Hua论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USABean, Lora J. H.论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Dept Human Genet, Atlanta, GA 30322 USA EGL Genet Diagnost LLC, Tucker, GA USA GeneDx, Gaithersburg, MD 20877 USAAnkala, Arunkanth论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Dept Human Genet, Atlanta, GA 30322 USA EGL Genet Diagnost LLC, Tucker, GA USA GeneDx, Gaithersburg, MD 20877 USA论文数: 引用数: h-index:机构:Knight Johnson, Amy论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Genet Serv Lab, Dept Human Genet, Chicago, IL 60637 USA GeneDx, Gaithersburg, MD 20877 USAVincent, Lisa M.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Childrens Natl Hlth Syst, Washington, DC USA GeneDx, Gaithersburg, MD 20877 USAReavey, Caitlin论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USALai, Amy论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USARichard, Gabriele论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USAMeck, Jeanne M.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USA
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- [29] Attention Should be Drawn to Rare Diseases and Interpretation of Sequence Variants中华医学杂志英文版, 2016, 129 (09) : 1009 - 1010Tang Bei-Sha论文数: 0 引用数: 0 h-index: 0机构: Department of Neurology,Xiangya Hospital,Central South University
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