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Brianna K Murray

Explore the profile of Brianna K Murray including associated specialties, affiliations and a list of published articles. Areas
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Recent Articles
1.
Yabumoto M, Kianmahd J, Singh M, Palafox M, Wei A, Elliott K, et al.
Mol Genet Genomic Med . 2021 Sep; 9(10):e1809. PMID: 34519438
The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say-Barber-Biesecker-Young-Simpson Syndrome and Genitopatellar Syndrome. Here we present 20...
2.
Peck D, Lacey J, White A, Pino G, Studinski A, Fisher R, et al.
Int J Neonatal Screen . 2020 Oct; 6(1):10. PMID: 33073008
Enzyme-based newborn screening for Mucopolysaccharidosis type I (MPS I) has a high false-positive rate due to the prevalence of pseudodeficiency alleles, often resulting in unnecessary and costly follow up. The...