Jessica R C Priestley
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Explore the profile of Jessica R C Priestley including associated specialties, affiliations and a list of published articles.
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18
Citations
241
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Recent Articles
1.
Weissenbacher D, Rawal S, Zhao X, Priestley J, Szigety K, Schmidt S, et al.
medRxiv
. 2023 Oct;
PMID: 37904943
Background: Phenotypes identified during dysmorphology physical examinations are critical to genetic diagnosis and nearly universally documented as free-text in the electronic health record (EHR). Variation in how phenotypes are recorded...
2.
Priestley J, Rippert A, Condit C, Izumi K, Kallish S, Drivas T
Am J Med Genet C Semin Med Genet
. 2023 Jun;
193(2):128-138.
PMID: 37296540
Kabuki syndrome is a recognizable Mendelian disorder characterized by the clinical constellation of childhood hypotonia, developmental delay or intellectual impairment, and characteristic dysmorphism resulting from monoallelic pathogenic variants in KMT2D...
3.
Priestley J, Deshwar A, Murthy H, DAgostino M, Dupuis L, Gangaram B, et al.
Genet Med
. 2023 May;
25(8):100863.
PMID: 37125634
Purpose: Bone morphogenic proteins (BMPs) regulate gene expression that is related to many critical developmental processes, including osteogenesis for which they are named. In addition, BMP2 is widely expressed in...
4.
Priestley J, Pace L, Sen K, Aggarwal A, Alves C, Campbell I, et al.
Mol Genet Metab Rep
. 2022 Nov;
33:100931.
PMID: 36420423
Malate dehydrogenases (MDH) serve a critical role in maintaining equilibrium of the NAD+/NADH ratio between the mitochondria and cytosol through the catalysis of the oxidation of L-malate to oxaloacetate in...
5.
Szigety K, Crowley T, Gaiser K, Chen E, Priestley J, Williams L, et al.
Pediatrics
. 2022 Jun;
150(1).
PMID: 35642503
Background And Objectives: Telemedicine may increase access to medical genetics care. However, in the pediatric setting, how telemedicine may affect the diagnostic rate is unknown, partially because of the perceived...
6.
Priestley J, Adang L, Drewes Williams S, Lichter-Konecki U, Menello C, Engelhardt N, et al.
Int J Neonatal Screen
. 2022 Apr;
8(2).
PMID: 35466195
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It results from pathogenic variants in , which encodes the peroxisomal very-long-chain fatty acid transporter, causing a spectrum of neurodegenerative phenotypes....
7.
8.
Alharbi H, Priestley J, Wilkins B, Ganetzky R
Clin Liver Dis (Hoboken)
. 2021 Nov;
18(5):243-250.
PMID: 34840726
No abstract available.
9.
Priestley J, Alharbi H, Callahan K, Guzman H, Payan-Walters I, Smith L, et al.
Int J Neonatal Screen
. 2020 Aug;
6(2).
PMID: 32832707
Tyrosinemia type 1 (TT1) is an inborn error of tyrosine metabolism with features including liver dysfunction, cirrhosis, and hepatocellular carcinoma; renal dysfunction that may lead to failure to thrive and...
10.
Priestley J, Fink K, McCord J, Lombard J
Microcirculation
. 2019 May;
26(7):e12575.
PMID: 31132190
Hypothesis: This study tested the hypothesis that dietary activation of the master antioxidant and cell protective transcription factor nuclear factor, erythroid -2-like 2 (NRF2), protects against salt-induced vascular dysfunction by...