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Mitch Bailey

Explore the profile of Mitch Bailey including associated specialties, affiliations and a list of published articles. Areas
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Articles 4
Citations 139
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Recent Articles
1.
MacCarrick G, Aradhya S, Bailey M, Chu D, Hunt A, Izzo E, et al.
Am J Med Genet A . 2024 May; 194(9):e63646. PMID: 38702915
Molecular genetics enables more precise diagnoses of skeletal dysplasia and other skeletal disorders (SDs). We investigated the clinical utility of multigene panel testing for 5011 unrelated individuals with SD in...
2.
Wan N, Weinberg D, Liu T, Niehaus K, Ariazi E, Delubac D, et al.
BMC Cancer . 2019 Aug; 19(1):832. PMID: 31443703
Background: Blood-based methods using cell-free DNA (cfDNA) are under development as an alternative to existing screening tests. However, early-stage detection of cancer using tumor-derived cfDNA has proven challenging because of...
3.
Gardner E, Bailey M, Schulz A, Aristorena M, Miller N, Mole S
Hum Mutat . 2019 Jul; 40(11):1924-1938. PMID: 31283065
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an autosomal recessive condition caused by variants in the TPP1 gene, leading to deficient activity of the lysosomal enzyme tripeptidyl peptidase I...
4.
Tomanin R, Karageorgos L, Zanetti A, Al-Sayed M, Bailey M, Miller N, et al.
Hum Mutat . 2018 Aug; 39(12):1788-1802. PMID: 30118150
Maroteaux-Lamy syndrome (MPS VI) is an autosomal recessive lysosomal storage disorder caused by pathogenic ARSB gene variants, commonly diagnosed through clinical findings and deficiency of the arylsulfatase B (ASB) enzyme....