Jessica R. Priestley
Pediatrics | Medical Genetics
25 Michigan Street Northeast
Suite 2100
Grand Rapids, MI 49503
Suite 2100
Grand Rapids, MI 49503
Last Updated: 09/26/2026
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Found 12 publications
Automatic genetic phenotype normalization from dysmorphology physical examinations: an overview of the BioCreative VIII-Task 3 competition.
Journal: Database : the journal of biological databases and curation
Published: October 17, 2024
PhenoID, a language model normalizer of physical examinations from genetics clinical notes.
Journal: medRxiv : the preprint server for health sciences
Published: October 31, 2023
Unmasking the challenges of Kabuki syndrome in adulthood: A case series.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: April 06, 2023
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 03, 2022
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.
Journal: Molecular genetics and metabolism reports
Published: October 17, 2022
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.
Journal: Pediatrics
Published: April 01, 2022
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania.
Journal: International journal of neonatal screening
Published: February 06, 2022
50 Years Ago in TheJournalofPediatrics: What's In a Name: Lessons Learned from Atypical Malformation Syndromes.
Journal: The Journal of pediatrics
Published: January 24, 2022
The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening.
Journal: International journal of neonatal screening
Published: August 25, 2020
Urinary Uracil: A Useful Marker for Ornithine Transcarbamylase Deficiency in Affected Males.
Journal: Clinical chemistry
Published: January 23, 2020
Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships.
Journal: American journal of medical genetics. Part A
Published: October 04, 2018
Showing 1-12 of 12
Last Updated: 09/26/2026