Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 162 publications
Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED).
Journal: American journal of medical genetics. Part A
Published: February 27, 2026
Implementing Genomic Medicine in Primary Care: A Convergent Mixed Method Case Study.
Journal: Journal of evaluation in clinical practice
Published: December 05, 2025
Transitions in interesting times.
Journal: American journal of human genetics
Published: December 05, 2025
Implementing Genomic Medicine in a Federally Qualified Health Center: Assessing Readiness through a Mixed-Methods Approach.
Journal: Public health genomics
Published: December 02, 2025
The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments.
Journal: American journal of human genetics
Published: October 09, 2025
Integrating genomic medicine into primary care -examining perceptions of community advisory board members.
Journal: Journal of community genetics
Published: September 16, 2025
Repair of Mutated NF1 mRNA with Trans-Splicing Group I Intron Ribozymes.
Journal: Cancers
Published: July 02, 2025
Genotype-first assessment of presentation and penetrance of neurofibromatosis type 1, autosomal dominant polycystic kidney disease, and Marfan syndrome within the All of Us research program cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 10, 2025
Genotype-First Assessment of Presentation and Penetrance of Neurofibromatosis Type 1, Autosomal Dominant Polycystic Kidney Disease, and Marfan Syndrome Within the All of Us Research Program Cohort.
Journal: medRxiv : the preprint server for health sciences
Published: March 10, 2025
Treatment of Cutaneous Neurofibromas in Neurofibromatosis Type 1 With MEK Inhibitor Selumetinib: A Nonrandomized Clinical Trial.
Journal: JAMA dermatology
Published: February 26, 2025
Advancing the science of genomic learning healthcare systems.
Journal: Learning health systems
Published: February 17, 2025
Psychosocial functioning and determinants of the health-related quality of life in children with neurofibromatosis type 1 and cognitive impairments.
Journal: Journal of neuro-oncology
Published: February 09, 2025
Last Updated: 09/26/2026