Last Updated: 09/26/2026
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Found 78 publications
Health economic evaluations of genomic newborn screening: Approaches by studies within the international consortium on newborn sequencing.
Journal: European journal of human genetics : EJHG
Published: December 08, 2025
Binder Phenotype: Evaluating the Utility and Influence of Genetic Results on Parental Decision Making in Antenatally Diagnosed Cases.
Journal: American journal of medical genetics. Part A
Published: June 02, 2025
A geospatial analysis of the association between the period prevalence of sarcoidosis and environmental toxins in Massachusetts.
Journal: The British journal of dermatology
Published: April 15, 2025
Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 09, 2025
Novel Homozygous Full Gene Deletion of SLC12A5 in a Newborn With Refractory Seizures.
Journal: American journal of medical genetics. Part A
Published: March 05, 2025
In Silico Validation of OncoOrigin: An Integrative AI Tool for Primary Cancer Site Prediction with Graphical User Interface to Facilitate Clinical Application.
Journal: International journal of molecular sciences
Published: February 09, 2025
Impact of an electronically-integrated clinical pathway on hospital initiation of medications for alcohol use disorder and subsequent hospital utilization.
Journal: Journal of hospital medicine
Published: December 12, 2024
A Splice Site Variant in SENP7 Results in a Severe Form of Arthrogryposis.
Journal: Clinical genetics
Published: October 22, 2024
Optic Nerve Coloboma in a Child With Compound Heterozygous USH2A Variants.
Journal: Case reports in genetics
Published: July 29, 2024
A comparison of iPLEDGE requirements to risk mitigation programs for isotretinoin in other countries and to other teratogenic medications in the United States.
Journal: Journal of the American Academy of Dermatology
Published: June 11, 2024
Epigenetic erosion of H4K20me1 induced by inflammation drives aged stem cell ferroptosis.
Journal: Research square
Published: February 27, 2024
Last Updated: 09/26/2026