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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
Genome Med. 2019 Dec 31;12(1):3. doi: 10.1186/s13073-019-0690-2.
Genome Med. 2019.
PMID: 31892348
Free PMC article.
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM, McNulty SM, Jairath MK, Brnich SE, Bizon C, Powell BC, Berg JS.
Kanavy DM, et al.
Genome Med. 2019 Nov 29;11(1):77. doi: 10.1186/s13073-019-0683-1.
Genome Med. 2019.
PMID: 31783775
Free PMC article.
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Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
Amendola LM, Muenzen K, Biesecker LG, Bowling KM, Cooper GM, Dorschner MO, Driscoll C, Foreman AKM, Golden-Grant K, Greally JM, Hindorff L, Kanavy D, Jobanputra V, Johnston JJ, Kenny EE, McNulty S, Murali P, Ou J, Powell BC, Rehm HL, Rolf B, Roman TS, Van Ziffle J, Guha S, Abhyankar A, Crosslin D, Venner E, Yuan B, Zouk H; CSER Sequencing and Diagnostic Yield working group; Jarvik GP.
Amendola LM, et al.
Am J Hum Genet. 2020 Nov 5;107(5):932-941. doi: 10.1016/j.ajhg.2020.09.011. Epub 2020 Oct 26.
Am J Hum Genet. 2020.
PMID: 33108757
Free PMC article.
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Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Goldstein JL, McGlaughon J, Kanavy D, Goomber S, Pan Y, Deml B, Donti T, Kearns L, Seifert BA, Schachter M, Son RG, Thaxton C, Udani R, Bali D, Baudet H, Caggana M, Hung C, Kyriakopoulou L, Rosenblum L, Steiner R, Pinto E Vairo F, Wang Y, Watson M, Fernandez R, Weaver M, Clarke L, Rehder C.
Goldstein JL, et al.
Mol Genet Metab. 2023 Sep-Oct;140(1-2):107715. doi: 10.1016/j.ymgme.2023.107715. Epub 2023 Oct 26.
Mol Genet Metab. 2023.
PMID: 37907381
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Comparative genome analysis of ciprofloxacin-resistant Pseudomonas aeruginosa reveals genes within newly identified high variability regions associated with drug resistance development.
Su HC, Khatun J, Kanavy DM, Giddings MC.
Su HC, et al. Among authors: kanavy dm.
Microb Drug Resist. 2013 Dec;19(6):428-36. doi: 10.1089/mdr.2012.0258. Epub 2013 Jun 29.
Microb Drug Resist. 2013.
PMID: 23808957
Free PMC article.
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Sry Gene Drive for Rodent Control: Reply to Gemmell and Tompkins.
Kanavy D, Serr M.
Kanavy D, et al.
Trends Ecol Evol. 2017 May;32(5):315-316. doi: 10.1016/j.tree.2017.03.006. Epub 2017 Apr 5.
Trends Ecol Evol. 2017.
PMID: 28389104
No abstract available.
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Is It Time for Synthetic Biodiversity Conservation?
Piaggio AJ, Segelbacher G, Seddon PJ, Alphey L, Bennett EL, Carlson RH, Friedman RM, Kanavy D, Phelan R, Redford KH, Rosales M, Slobodian L, Wheeler K.
Piaggio AJ, et al.
Trends Ecol Evol. 2017 Feb;32(2):97-107. doi: 10.1016/j.tree.2016.10.016. Epub 2016 Nov 19.
Trends Ecol Evol. 2017.
PMID: 27871673
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