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Donnice Michel

Explore the profile of Donnice Michel including associated specialties, affiliations and a list of published articles. Areas
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Articles 4
Citations 38
Followers 0
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Recent Articles
1.
Cai L, Vu H, Gu W, Chen H, Franklin J, Abou Haidar L, et al.
bioRxiv . 2024 Jan; PMID: 38168314
Metabolomic profiling is instrumental in understanding the systemic and cellular impact of inborn errors of metabolism (IEMs), monogenic disorders caused by pathogenic genomic variants in genes involved in metabolism. This...
2.
Ni M, Afroze B, Xing C, Pan C, Shao Y, Cai L, et al.
Genet Med . 2021 Jan; 23(5):900-908. PMID: 33473208
Purpose: Neurodevelopmental disabilities are common and genetically heterogeneous. We identified a homozygous variant in the gene encoding UFM1-specific peptidase 2 (UFSP2), which participates in the UFMylation pathway of protein modification....
3.
Gotway G, Crossley E, Kozlitina J, Xing C, Fan J, Hornbuckle C, et al.
Clin Chem . 2020 Jul; 66(1):199-206. PMID: 32609854
Background: Exome sequencing has become a commonly used clinical diagnostic test. Multiple studies have examined the diagnostic utility and individual laboratory performance of exome testing; however, no previous study has...
4.
Sanchez-Valle A, Wang X, Potocki L, Xia Z, Kang S, Carlin M, et al.
Am J Med Genet A . 2010 Oct; 152A(11):2854-60. PMID: 20979191
Branchio-oto-renal syndrome is characterized by branchial defects, hearing loss, preauricular pits, and renal anomalies. Mutations in EYA1 are the most common cause of branchio-oto-renal and branchio-otic syndromes. Large chromosomal aberrations...