Last Updated: 09/26/2026
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Found 30 publications
Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project.
Journal: Human genetics
Published: November 03, 2025
The DO-KB knowledgebase 2026 update: expanding programmatic and language access.
Journal: Nucleic acids research
Published: September 12, 2025
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.
Journal: Neurology
Published: January 30, 2025
Clinical and biochemical footprints of inherited metabolic diseases: XVII. Dysmorphisms.
Journal: Molecular genetics and metabolism
Published: July 20, 2024
Delivering Telegenetics Services: Review and Synthesis of Best Practices.
Journal: Telemedicine journal and e-health : the official journal of the American Telemedicine Association
Published: June 25, 2024
Rare CCND2 (p.Thr280Ile) Variant Associated With Infantile Spasms in a Patient With Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.
Journal: Pediatric neurology
Published: March 16, 2024
The DO-KB Knowledgebase: a 20-year journey developing the disease open science ecosystem.
Journal: Nucleic acids research
Published: September 14, 2023
Modeling the enigma of complex disease etiology.
Journal: Journal of translational medicine
Published: September 12, 2022
Interpretation challenge of small copy number variations in the imprinting regions.
Journal: Molecular genetics & genomic medicine
Published: February 28, 2022
Review of general and head and neck/oral and maxillofacial features of Charcot-Marie-Tooth disease and dental management considerations.
Journal: Oral surgery, oral medicine, oral pathology and oral radiology
Published: December 01, 2021
Last Updated: 09/26/2026