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- [1] Adaptation of ACMG-ClinGen Technical Standards for Copy Number Variant Interpretation ConcordanceFRONTIERS IN GENETICS, 2022, 13Zhang, Kuo论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Beijing Hosp, Natl Ctr Clin Labs, Inst Geriatr Med,Natl Ctr Gerontol, Beijing, Peoples R China Chinese Acad Med Sci, Beijing Hosp, Natl Ctr Clin Labs, Inst Geriatr Med,Natl Ctr Gerontol, Beijing, Peoples R ChinaLin, Guigao论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Beijing Hosp, Natl Ctr Clin Labs, Inst Geriatr Med,Natl Ctr Gerontol, Beijing, Peoples R China Chinese Acad Med Sci, Beijing Hosp, Natl Ctr Clin Labs, Inst Geriatr Med,Natl Ctr Gerontol, Beijing, Peoples R ChinaHan, Dongsheng论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Beijing Hosp, Natl Ctr Clin Labs, Inst Geriatr Med,Natl Ctr Gerontol, Beijing, Peoples R China Chinese Acad Med Sci, Beijing Hosp, Natl Ctr Clin Labs, Inst Geriatr Med,Natl Ctr Gerontol, Beijing, Peoples R ChinaHan, Yanxi论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Beijing Hosp, Natl Ctr Clin Labs, Inst Geriatr Med,Natl Ctr Gerontol, Beijing, Peoples R China Chinese Acad Med Sci, Beijing Hosp, Natl Ctr Clin Labs, Inst Geriatr Med,Natl Ctr Gerontol, Beijing, Peoples R ChinaPeng, Rongxue论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Beijing Hosp, Natl Ctr Clin Labs, Inst Geriatr Med,Natl Ctr Gerontol, Beijing, Peoples R China Chinese Acad Med Sci, Beijing Hosp, Natl Ctr Clin Labs, Inst Geriatr Med,Natl Ctr Gerontol, Beijing, Peoples R ChinaLi, Jinming论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Beijing Hosp, Natl Ctr Clin Labs, Inst Geriatr Med,Natl Ctr Gerontol, Beijing, Peoples R China Chinese Acad Med Sci, Beijing Hosp, Natl Ctr Clin Labs, Inst Geriatr Med,Natl Ctr Gerontol, Beijing, Peoples R China
- [2] Utility and Outcomes of the 2019 American College of Medical Genetics and Genomics-Clinical Genome Resource Guidelines for Interpretation of Copy Number Variants with Borderline Classifications at an Academic Clinical Diagnostic LaboratoryJOURNAL OF MOLECULAR DIAGNOSTICS, 2022, 24 (10): : 1100 - 1111Drackley, Andy论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Ctr Genom, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Div Genet Birth Defects & Metab, Chicago, IL 60611 USA Northwestern Univ, Feinberg Sch Med, Ctr Genet Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL 60611 USABrew, Casey论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Ctr Genom, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Div Genet Birth Defects & Metab, Chicago, IL 60611 USA Northwestern Univ, Feinberg Sch Med, Ctr Genet Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL 60611 USAWlodaver, Alissa论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Ctr Genom, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL 60611 USASpencer, Sara论文数: 0 引用数: 0 h-index: 0机构: Northwestern Med, Dept Obstet & Gynecol, Chicago, IL USA Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL 60611 USALeuer, Katrin论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Ctr Genom, Chicago, IL 60611 USA Northwestern Univ, Dept Pathol, Feinberg Sch Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL 60611 USARathbun, Pamela论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Ctr Genom, Chicago, IL 60611 USA Northwestern Univ, Dept Pathol, Feinberg Sch Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL 60611 USACharrow, Joel论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Div Genet Birth Defects & Metab, Chicago, IL 60611 USA Northwestern Univ, Dept Pediat, Feinberg Sch Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL 60611 USAWieneke, Xuwen论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Ctr Genom, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL 60611 USAYap, Kai Lee论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Ctr Genom, Chicago, IL 60611 USA Northwestern Univ, Dept Pathol, Feinberg Sch Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL 60611 USAIng, Alexander论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Ctr Genom, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Div Genet Birth Defects & Metab, Chicago, IL 60611 USA Northwestern Univ, Feinberg Sch Med, Ctr Genet Med, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL 60611 USA
- [3] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)GENETICS IN MEDICINE, 2020, 22 (02) : 245 - 257Riggs, Erin Rooney论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Autism & Dev Med Inst, Danville, PA 17822 USA Geisinger, Autism & Dev Med Inst, Danville, PA 17822 USAAndersen, Erica F.论文数: 0 引用数: 0 h-index: 0机构: ARUP Labs, Salt Lake City, UT USA Univ Utah, Dept Pathol, Salt Lake City, UT USA Geisinger, Autism & Dev Med Inst, Danville, PA 17822 USACherry, Athena M.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Stanford, CA 94305 USA Geisinger, Autism & Dev Med Inst, Danville, PA 17822 USAKantarci, Sibel论文数: 0 引用数: 0 h-index: 0机构: Quest Diagnost Nichols Inst, San Juan Capistrano, CA USA Geisinger, Autism & Dev Med Inst, Danville, PA 17822 USAKearney, Hutton论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Genom Lab, Dept Lab Med & Pathol, Rochester, MN USA Geisinger, Autism & Dev Med Inst, Danville, PA 17822 USAPatel, Ankita论文数: 0 引用数: 0 h-index: 0机构: Lineagen, Salt Lake City, UT USA Geisinger, Autism & Dev Med Inst, Danville, PA 17822 USARaca, Gordana论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Los Angeles, Los Angeles, CA 90027 USA Geisinger, Autism & Dev Med Inst, Danville, PA 17822 USARitter, Deborah I.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Texas Childrens Canc Ctr, Houston, TX 77030 USA Geisinger, Autism & Dev Med Inst, Danville, PA 17822 USASouth, Sarah T.论文数: 0 引用数: 0 h-index: 0机构: AncestryDNA, Lehi, UT USA Geisinger, Autism & Dev Med Inst, Danville, PA 17822 USAThorland, Erik C.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Genom Lab, Dept Lab Med & Pathol, Rochester, MN USA Geisinger, Autism & Dev Med Inst, Danville, PA 17822 USAPineda-Alvarez, Daniel论文数: 0 引用数: 0 h-index: 0机构: Invitae, San Francisco, CA USA Geisinger, Autism & Dev Med Inst, Danville, PA 17822 USA论文数: 引用数: h-index:机构:Martin, Christa Lese论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Autism & Dev Med Inst, Danville, PA 17822 USA Geisinger, Autism & Dev Med Inst, Danville, PA 17822 USA
- [4] Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants (vol 49, pg 689, 2019)GENETICS IN MEDICINE, 2020, 22 (03) : 670 - 671Brandt, Tracy论文数: 0 引用数: 0 h-index: 0Sack, Laura M.论文数: 0 引用数: 0 h-index: 0Arjona, Dolores论文数: 0 引用数: 0 h-index: 0Tan, Duanjun论文数: 0 引用数: 0 h-index: 0Mei, Hui论文数: 0 引用数: 0 h-index: 0Cui, Hong论文数: 0 引用数: 0 h-index: 0Gao, Hua论文数: 0 引用数: 0 h-index: 0Bean, Lora J. H.论文数: 0 引用数: 0 h-index: 0Ankala, Arunkanth论文数: 0 引用数: 0 h-index: 0Del Gaudio, Daniela论文数: 0 引用数: 0 h-index: 0Johnson, Amy Knight论文数: 0 引用数: 0 h-index: 0Vincent, Lisa M.论文数: 0 引用数: 0 h-index: 0Reavey, Caitlin论文数: 0 引用数: 0 h-index: 0Lai, Amy论文数: 0 引用数: 0 h-index: 0Richard, Gabriele论文数: 0 引用数: 0 h-index: 0Meck, Jeanne M.论文数: 0 引用数: 0 h-index: 0
- [5] Correspondence on "Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)" by Riggs et alGENETICS IN MEDICINE, 2023, 25 (08)Spurdle, Amanda B.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Populat Hlth, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Populat Hlth, Brisbane, Qld, AustraliaDrackley, Andrew论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL USA Ann & Robert H Lurie Childrens Hosp Chicago, Ctr Genom, Chicago, IL USA Ann & Robert H Lurie Childrens Hosp Chicago, Div Genet Birth Defects & Metab, Chicago, IL USA Northwestern Univ, Feinberg Sch Med, Chicago, IL USA QIMR Berghofer Med Res Inst, Populat Hlth, Brisbane, Qld, AustraliaIng, Alexande论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL USA Ann & Robert H Lurie Childrens Hosp Chicago, Ctr Genom, Chicago, IL USA Ann & Robert H Lurie Childrens Hosp Chicago, Div Genet Birth Defects & Metab, Chicago, IL USA Northwestern Univ, Feinberg Sch Med, Chicago, IL USA QIMR Berghofer Med Res Inst, Populat Hlth, Brisbane, Qld, AustraliaTudini, Emma论文数: 0 引用数: 0 h-index: 0机构: Australian Genom, Melbourne, Vic, Australia QIMR Berghofer Med Res Inst, Populat Hlth, Brisbane, Qld, AustraliaYap, Kai L.论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL USA Ann & Robert H Lurie Childrens Hosp Chicago, Ctr Genom, Chicago, IL USA Northwestern Univ, Feinberg Sch Med, Chicago, IL USA QIMR Berghofer Med Res Inst, Populat Hlth, Brisbane, Qld, AustraliaTavtigian, 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 Huntsman Canc Inst, 2000 Circle Hope, Salt Lake City, UT 84112 USA QIMR Berghofer Med Res Inst, Populat Hlth, Brisbane, Qld, Australia
- [6] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) (vol 22, pg 245, 2020)GENETICS IN MEDICINE, 2021, 23 (11) : 2230 - 2230Riggs, Erin Rooney论文数: 0 引用数: 0 h-index: 0Andersen, Erica F.论文数: 0 引用数: 0 h-index: 0Cherry, Athena M.论文数: 0 引用数: 0 h-index: 0Kantarci, Sibel论文数: 0 引用数: 0 h-index: 0Kearney, Hutton论文数: 0 引用数: 0 h-index: 0Patel, Ankita论文数: 0 引用数: 0 h-index: 0Raca, Gordana论文数: 0 引用数: 0 h-index: 0Ritter, Deborah I.论文数: 0 引用数: 0 h-index: 0South, Sarah T.论文数: 0 引用数: 0 h-index: 0Thorland, Erik C.论文数: 0 引用数: 0 h-index: 0Pineda-Alvarez, Daniel论文数: 0 引用数: 0 h-index: 0Aradhya, Swaroop论文数: 0 引用数: 0 h-index: 0Martin, Christa Lese论文数: 0 引用数: 0 h-index: 0
- [7] CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants onlineBIOINFORMATICS, 2023, 39 (05)Macnee, Marie论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Cologne Ctr Genom CCG, Cologne, Germany Univ Cologne, Cologne Ctr Genom CCG, Cologne, GermanyPerez-Palma, Eduardo论文数: 0 引用数: 0 h-index: 0机构: Univ Desarrollo, Fac Med Clin Alemana, Ctr Genet & Genomica, Santiago, Chile Univ Cologne, Cologne Ctr Genom CCG, Cologne, GermanyBruenger, Tobias论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Cologne Ctr Genom CCG, Cologne, Germany Univ Cologne, Cologne Ctr Genom CCG, Cologne, GermanyKloeckner, Chiara论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Med Ctr, Inst Human Genet, Leipzig, Germany Univ Cologne, Cologne Ctr Genom CCG, Cologne, GermanyPlatzer, Konrad论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Med Ctr, Inst Human Genet, Leipzig, Germany Univ Cologne, Cologne Ctr Genom CCG, Cologne, GermanyStefanski, Arthur论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin, Genom Med Inst, Lerner Res Inst, Cleveland, OH USA Cleveland Clin, Neurol Inst, Epilepsy Ctr, Cleveland, OH USA Univ Cologne, Cologne Ctr Genom CCG, Cologne, GermanyMontanucci, Ludovica论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin, Genom Med Inst, Lerner Res Inst, Cleveland, OH USA Univ Cologne, Cologne Ctr Genom CCG, Cologne, GermanyBayat, Allan论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, ERN Epicare, Dept Epilepsy Genet & Personalized Med, Dianalund, Denmark Univ Southern Denmark, Fac Hlth Sci, Dept Reg Hlth Res, Odense, Denmark Univ Cologne, Cologne Ctr Genom CCG, Cologne, GermanyRadtke, Maximilian论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Med Ctr, Inst Human Genet, Leipzig, Germany Univ Cologne, Cologne Ctr Genom CCG, Cologne, GermanyCollins, Ryan L.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Cambridge, MA USA Harvard Med Sch, Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA USA Univ Cologne, Cologne Ctr Genom CCG, Cologne, GermanyTalkowski, Michael论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Cambridge, MA USA Harvard Med Sch, Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA USA Univ Cologne, Cologne Ctr Genom CCG, Cologne, GermanyBlankenberg, Daniel论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin, Genom Med Inst, Lerner Res Inst, Cleveland, OH USA Univ Cologne, Cologne Ctr Genom CCG, Cologne, GermanyMoller, Rikke S.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, ERN Epicare, Dept Epilepsy Genet & Personalized Med, Dianalund, Denmark Univ Southern Denmark, Fac Hlth Sci, Dept Reg Hlth Res, Odense, Denmark Univ Cologne, Cologne Ctr Genom CCG, Cologne, GermanyLemke, Johannes R.论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Med Ctr, Inst Human Genet, Leipzig, Germany Univ Cologne, Cologne Ctr Genom CCG, Cologne, GermanyNothnagel, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Cologne Ctr Genom CCG, Cologne, Germany Univ Hosp Cologne, Cologne, Germany Univ Cologne, Cologne Ctr Genom CCG, Cologne, GermanyMay, Patrick论文数: 0 引用数: 0 h-index: 0机构: Univ Luxembourg, Luxembourg Ctr Syst Biomed, Esch Sur Alzette, Luxembourg Univ Cologne, Cologne Ctr Genom CCG, Cologne, GermanyLal, Dennis论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Cologne Ctr Genom CCG, Cologne, Germany Cleveland Clin, Genom Med Inst, Lerner Res Inst, Cleveland, OH USA Cleveland Clin, Neurol Inst, Epilepsy Ctr, Cleveland, OH USA Broad Inst MIT & Harvard, Cambridge, MA USA Univ Cologne, Cologne Ctr Genom CCG, Cologne, Germany
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