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Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
Am J Hum Genet. 2021 Sep 2;108(9):1551-1557. doi: 10.1016/j.ajhg.2021.06.020. Epub 2021 Jul 29.
Am J Hum Genet. 2021.
PMID: 34329581
Free PMC article.
Review.
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
Van Bergen NJ, Hock DH, Spencer L, Massey S, Stait T, Stark Z, Lunke S, Roesley A, Peters H, Lee JY, Le Fevre A, Heath O, Mignone C, Yang JY, Ryan MM, D'Arcy C, Nash M, Smith S, Caruana NJ, Thorburn DR, Stroud DA, White SM, Christodoulou J, Brown NJ.
Van Bergen NJ, et al. Among authors: roesley a.
Int J Mol Sci. 2022 Jan 17;23(2):986. doi: 10.3390/ijms23020986.
Int J Mol Sci. 2022.
PMID: 35055180
Free PMC article.
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Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype.
Blombery P, Ryland GL, Fox LC, Stark Z, Wall M, Jarmolowicz A, Roesley A, Thompson ER, Grimmond SM, Panicker S, Kwok F.
Blombery P, et al. Among authors: roesley a.
Br J Haematol. 2022 Jul;198(1):196-199. doi: 10.1111/bjh.18178. Epub 2022 Apr 5.
Br J Haematol. 2022.
PMID: 35381620
No abstract available.
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