Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel. Kountouris, P., Stephanou, C., Lederer, C. W., Traeger-Synodinos, J., Bento, C., Harteveld, C. L., Fylaktou, E., Koopmann, T. T., Halim-Fikri, H., Michailidou, K., Nfonsam, L. E., Waye, J. S., Zilfalil, B. A., Kleanthous, M., & ClinGen Hemoglobinopathy Variant Curation Expert Panel Human Mutation, 43(8):1089–1096, August, 2022. doi bibtex @article{kountouris_adapting_2022,
title = {Adapting the {ACMG}/{AMP} variant classification framework: {A} perspective from the {ClinGen} {Hemoglobinopathy} {Variant} {Curation} {Expert} {Panel}},
volume = {43},
issn = {1098-1004},
shorttitle = {Adapting the {ACMG}/{AMP} variant classification framework},
doi = {10.1002/humu.24280},
language = {eng},
number = {8},
journal = {Human Mutation},
author = {Kountouris, Petros and Stephanou, Coralea and Lederer, Carsten W. and Traeger-Synodinos, Joanne and Bento, Celeste and Harteveld, Cornelis L. and Fylaktou, Eirini and Koopmann, Tamara T. and Halim-Fikri, Hashim and Michailidou, Kyriaki and Nfonsam, Landry E. and Waye, John S. and Zilfalil, Bin A. and Kleanthous, Marina and {ClinGen Hemoglobinopathy Variant Curation Expert Panel}},
month = aug,
year = {2022},
pmid = {34510646},
pmcid = {PMC9545675},
keywords = {ACMG/AMP criteria, ClinGen VCEP, Genetic Testing, Genetic Variation, Genome, Human, Hemoglobinopathies, Humans, Pathology, Molecular, United States, globin gene variants, hemoglobinopathy, variant classification},
pages = {1089--1096},
}
Downloads: 0
{"_id":"kru7LeGgP78kDy37d","bibbaseid":"kountouris-stephanou-lederer-traegersynodinos-bento-harteveld-fylaktou-koopmann-etal-adaptingtheacmgampvariantclassificationframeworkaperspectivefromtheclingenhemoglobinopathyvariantcurationexpertpanel-2022","author_short":["Kountouris, P.","Stephanou, C.","Lederer, C. W.","Traeger-Synodinos, J.","Bento, C.","Harteveld, C. L.","Fylaktou, E.","Koopmann, T. T.","Halim-Fikri, H.","Michailidou, K.","Nfonsam, L. E.","Waye, J. S.","Zilfalil, B. A.","Kleanthous, M.","ClinGen Hemoglobinopathy Variant Curation Expert Panel"],"bibdata":{"bibtype":"article","type":"article","title":"Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel","volume":"43","issn":"1098-1004","shorttitle":"Adapting the ACMG/AMP variant classification framework","doi":"10.1002/humu.24280","language":"eng","number":"8","journal":"Human Mutation","author":[{"propositions":[],"lastnames":["Kountouris"],"firstnames":["Petros"],"suffixes":[]},{"propositions":[],"lastnames":["Stephanou"],"firstnames":["Coralea"],"suffixes":[]},{"propositions":[],"lastnames":["Lederer"],"firstnames":["Carsten","W."],"suffixes":[]},{"propositions":[],"lastnames":["Traeger-Synodinos"],"firstnames":["Joanne"],"suffixes":[]},{"propositions":[],"lastnames":["Bento"],"firstnames":["Celeste"],"suffixes":[]},{"propositions":[],"lastnames":["Harteveld"],"firstnames":["Cornelis","L."],"suffixes":[]},{"propositions":[],"lastnames":["Fylaktou"],"firstnames":["Eirini"],"suffixes":[]},{"propositions":[],"lastnames":["Koopmann"],"firstnames":["Tamara","T."],"suffixes":[]},{"propositions":[],"lastnames":["Halim-Fikri"],"firstnames":["Hashim"],"suffixes":[]},{"propositions":[],"lastnames":["Michailidou"],"firstnames":["Kyriaki"],"suffixes":[]},{"propositions":[],"lastnames":["Nfonsam"],"firstnames":["Landry","E."],"suffixes":[]},{"propositions":[],"lastnames":["Waye"],"firstnames":["John","S."],"suffixes":[]},{"propositions":[],"lastnames":["Zilfalil"],"firstnames":["Bin","A."],"suffixes":[]},{"propositions":[],"lastnames":["Kleanthous"],"firstnames":["Marina"],"suffixes":[]},{"firstnames":[],"propositions":[],"lastnames":["ClinGen Hemoglobinopathy Variant Curation Expert Panel"],"suffixes":[]}],"month":"August","year":"2022","pmid":"34510646","pmcid":"PMC9545675","keywords":"ACMG/AMP criteria, ClinGen VCEP, Genetic Testing, Genetic Variation, Genome, Human, Hemoglobinopathies, Humans, Pathology, Molecular, United States, globin gene variants, hemoglobinopathy, variant classification","pages":"1089–1096","bibtex":"@article{kountouris_adapting_2022,\n\ttitle = {Adapting the {ACMG}/{AMP} variant classification framework: {A} perspective from the {ClinGen} {Hemoglobinopathy} {Variant} {Curation} {Expert} {Panel}},\n\tvolume = {43},\n\tissn = {1098-1004},\n\tshorttitle = {Adapting the {ACMG}/{AMP} variant classification framework},\n\tdoi = {10.1002/humu.24280},\n\tlanguage = {eng},\n\tnumber = {8},\n\tjournal = {Human Mutation},\n\tauthor = {Kountouris, Petros and Stephanou, Coralea and Lederer, Carsten W. and Traeger-Synodinos, Joanne and Bento, Celeste and Harteveld, Cornelis L. and Fylaktou, Eirini and Koopmann, Tamara T. and Halim-Fikri, Hashim and Michailidou, Kyriaki and Nfonsam, Landry E. and Waye, John S. and Zilfalil, Bin A. and Kleanthous, Marina and {ClinGen Hemoglobinopathy Variant Curation Expert Panel}},\n\tmonth = aug,\n\tyear = {2022},\n\tpmid = {34510646},\n\tpmcid = {PMC9545675},\n\tkeywords = {ACMG/AMP criteria, ClinGen VCEP, Genetic Testing, Genetic Variation, Genome, Human, Hemoglobinopathies, Humans, Pathology, Molecular, United States, globin gene variants, hemoglobinopathy, variant classification},\n\tpages = {1089--1096},\n}\n\n","author_short":["Kountouris, P.","Stephanou, C.","Lederer, C. W.","Traeger-Synodinos, J.","Bento, C.","Harteveld, C. L.","Fylaktou, E.","Koopmann, T. T.","Halim-Fikri, H.","Michailidou, K.","Nfonsam, L. E.","Waye, J. S.","Zilfalil, B. A.","Kleanthous, M.","ClinGen Hemoglobinopathy Variant Curation Expert Panel"],"key":"kountouris_adapting_2022","id":"kountouris_adapting_2022","bibbaseid":"kountouris-stephanou-lederer-traegersynodinos-bento-harteveld-fylaktou-koopmann-etal-adaptingtheacmgampvariantclassificationframeworkaperspectivefromtheclingenhemoglobinopathyvariantcurationexpertpanel-2022","role":"author","urls":{},"keyword":["ACMG/AMP criteria","ClinGen VCEP","Genetic Testing","Genetic Variation","Genome","Human","Hemoglobinopathies","Humans","Pathology","Molecular","United States","globin gene variants","hemoglobinopathy","variant classification"],"metadata":{"authorlinks":{}}},"bibtype":"article","biburl":"https://api.zotero.org/users/4516419/collections/XQQRG67P/items?key=iUGtZ5FwZ23zKgsOTKK1Vgda&format=bibtex&limit=100","dataSources":["o6gcjfYyevYa8keDi","6iCaXTjNkdcqEW6gd","MnayAXw3qciX87bz7"],"keywords":["acmg/amp criteria","clingen vcep","genetic testing","genetic variation","genome","human","hemoglobinopathies","humans","pathology","molecular","united states","globin gene variants","hemoglobinopathy","variant classification"],"search_terms":["adapting","acmg","amp","variant","classification","framework","perspective","clingen","hemoglobinopathy","variant","curation","expert","panel","kountouris","stephanou","lederer","traeger-synodinos","bento","harteveld","fylaktou","koopmann","halim-fikri","michailidou","nfonsam","waye","zilfalil","kleanthous","clingen hemoglobinopathy variant curation expert panel"],"title":"Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel","year":2022}