Last Updated: 09/26/2026
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Found 90 publications
Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.
Journal: Genetics in medicine open
Published: September 30, 2024
A Machine Learning Decision Support Tool Optimizes Whole Genome Sequencing Utilization in a Neonatal Intensive Care Unit.
Journal: medRxiv : the preprint server for health sciences
Published: July 15, 2024
A machine learning decision support tool optimizes WGS utilization in a neonatal intensive care unit.
Journal: NPJ digital medicine
Published: July 05, 2024
An approach for collaborative development of a federated biomedical knowledge graph-based question-answering system: Question-of-the-Month challenges.
Journal: Journal of clinical and translational science
Published: July 10, 2023
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.
Journal: American journal of medical genetics. Part A
Published: March 07, 2023
A gene-based association test of interactions for maternal-fetal genotypes identifies genes associated with nonsyndromic congenital heart defects.
Journal: Genetic epidemiology
Published: February 10, 2023
3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma.
Journal: Nature communications
Published: December 28, 2022
Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline.
Journal: Journal of personalized medicine
Published: September 21, 2022
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning.
Journal: Genome medicine
Published: August 25, 2022
Last Updated: 09/26/2026