Jessica Priestley
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View article: P292: Assessment of interpupillary distance in a racially/ethnically diverse pediatric sample from electronic health record data
P292: Assessment of interpupillary distance in a racially/ethnically diverse pediatric sample from electronic health record data Open
View article: Automatic genetic phenotype normalization from dysmorphology physical examinations: an overview of the BioCreative VIII—Task 3 competition
Automatic genetic phenotype normalization from dysmorphology physical examinations: an overview of the BioCreative VIII—Task 3 competition Open
We present here an overview of the BioCreative VIII Task 3 competition, which called for the development of state-of-the-art approaches to automatic normalization of observations noted by physicians in dysmorphology physical examinations t…
View article: P411: An atypical presentation of Werner syndrome in a patient with a novel likely pathogenic variant in WRN: A case report
P411: An atypical presentation of Werner syndrome in a patient with a novel likely pathogenic variant in WRN: A case report Open
View article: PhenoID, a language model normalizer of physical examinations from genetics clinical notes
PhenoID, a language model normalizer of physical examinations from genetics clinical notes Open
A bstract 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 r…
View article: Table of Contents
Table of Contents Open
View article: P401: Patients from historically marginalized backgrounds are referred to clinical genetics at lower rates in a large academic health system
P401: Patients from historically marginalized backgrounds are referred to clinical genetics at lower rates in a large academic health system Open
View article: Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care Open
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 importance of the dysmor…
View article: Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania Open
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It results from pathogenic variants in ABCD1, which encodes the peroxisomal very-long-chain fatty acid transporter, causing a spectrum of neurodegenerative phen…
View article: Mitochondrial Hepatopathies
Mitochondrial Hepatopathies Open
Content available: Author Interview and Audio Recording Answer questions and earn CME Mitochondria play critical roles in energy, calcium, iron, and reduction/oxidation homeostasis, as well as regulation of apoptosis. They are the only org…
View article: Urinary Uracil: A Useful Marker for Ornithine Transcarbamylase Deficiency in Affected Males
Urinary Uracil: A Useful Marker for Ornithine Transcarbamylase Deficiency in Affected Males Open
View article: Evaluation of Vascular Control Mechanisms Utilizing Video Microscopy of Isolated Resistance Arteries of Rats
Evaluation of Vascular Control Mechanisms Utilizing Video Microscopy of Isolated Resistance Arteries of Rats Open
This protocol describes the use of in vitro television microscopy to evaluate vascular function in isolated cerebral resistance arteries (and other vessels), and describes techniques for evaluating tissue perfusion using Laser Doppler Flow…
View article: Mutation of <i>SH2B3</i> ( <i>LNK</i> ), a Genome-Wide Association Study Candidate for Hypertension, Attenuates Dahl Salt-Sensitive Hypertension via Inflammatory Modulation
Mutation of <i>SH2B3</i> ( <i>LNK</i> ), a Genome-Wide Association Study Candidate for Hypertension, Attenuates Dahl Salt-Sensitive Hypertension via Inflammatory Modulation Open
Human genome-wide association studies have linked SH2B adaptor protein 3 ( SH2B3 , LNK ) to hypertension and renal disease, although little experimental investigation has been performed to verify a role for SH2B3 in these pathologies. SH2B…