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Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Hum Mutat. 2023;2023:9537832. doi: 10.1155/2023/9537832. Epub 2023 Mar 29.
Hum Mutat. 2023.
PMID: 38084291
Free PMC article.
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Fortuno C, Lee K, Olivier M, Pesaran T, Mai PL, de Andrade KC, Attardi LD, Crowley S, Evans DG, Feng BJ, Foreman AKM, Frone MN, Huether R, James PA, McGoldrick K, Mester J, Seifert BA, Slavin TP, Witkowski L, Zhang L, Plon SE, Spurdle AB, Savage SA; ClinGen TP53 Variant Curation Expert Panel.
Fortuno C, et al.
Hum Mutat. 2021 Mar;42(3):223-236. doi: 10.1002/humu.24152. Epub 2020 Dec 25.
Hum Mutat. 2021.
PMID: 33300245
Free PMC article.
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Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels.
Lee K, Seifert BA, Shimelis H, Ghosh R, Crowley SB, Carter NJ, Doonanco K, Foreman AK, Ritter DI, Jimenez S, Trapp M, Offit K, Plon SE, Couch FJ.
Lee K, et al. Among authors: crowley sb.
Genet Med. 2019 Jul;21(7):1497-1506. doi: 10.1038/s41436-018-0361-5. Epub 2018 Dec 3.
Genet Med. 2019.
PMID: 30504931
Free PMC article.
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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J, Goldstein J, Thaxton C, Caleshu C, Corty EW, Crowley SB, Dougherty K, Harrison SM, McGlaughon J, Milko LV, Morales A, Seifert BA, Strande N, Thomson K, Peter van Tintelen J, Wallace K, Walsh R, Wells Q, Whiffin N, Witkowski L, Semsarian C, Ware JS, Hershberger RE, Funke B.
Ingles J, et al. Among authors: crowley sb.
Circ Genom Precis Med. 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460.
Circ Genom Precis Med. 2019.
PMID: 30681346
Free PMC article.
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Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
Roman TS, Crowley SB, Roche MI, Foreman AKM, O'Daniel JM, Seifert BA, Lee K, Brandt A, Gustafson C, DeCristo DM, Strande NT, Ramkissoon L, Milko LV, Owen P, Roy S, Xiong M, Paquin RS, Butterfield RM, Lewis MA, Souris KJ, Bailey DB Jr, Rini C, Booker JK, Powell BC, Weck KE, Powell CM, Berg JS.
Roman TS, et al. Among authors: crowley sb.
Am J Hum Genet. 2020 Oct 1;107(4):596-611. doi: 10.1016/j.ajhg.2020.08.001. Epub 2020 Aug 26.
Am J Hum Genet. 2020.
PMID: 32853555
Free PMC article.
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Genomics of severe and treatment-resistant obsessive-compulsive disorder treated with deep brain stimulation: A preliminary investigation.
Chen LL, Naesström M, Halvorsen M, Fytagoridis A, Crowley SB, Mataix-Cols D, Rück C, Crowley JJ, Pascal D.
Chen LL, et al. Among authors: crowley sb.
Am J Med Genet B Neuropsychiatr Genet. 2024 Apr 22:e32983. doi: 10.1002/ajmg.b.32983. Online ahead of print.
Am J Med Genet B Neuropsychiatr Genet. 2024.
PMID: 38650085
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An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.
Milko LV, O'Daniel JM, DeCristo DM, Crowley SB, Foreman AKM, Wallace KE, Mollison LF, Strande NT, Girnary ZS, Boshe LJ, Aylsworth AS, Gucsavas-Calikoglu M, Frazier DM, Vora NL, Roche MI, Powell BC, Powell CM, Berg JS.
Milko LV, et al. Among authors: crowley sb.
J Pediatr. 2019 Jun;209:68-76. doi: 10.1016/j.jpeds.2018.12.027. Epub 2019 Mar 7.
J Pediatr. 2019.
PMID: 30851990
Free PMC article.
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