Last Updated: 09/26/2026
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Found 79 publications
Report of Concomitant Intracranial Cysts in Unrelated Patients With Heterozygous Germline NF1 Pathogenic Variants.
Journal: Annals of internal medicine. Clinical cases
Published: February 16, 2026
NF2-related Schwannomatosis Diagnosed Before and After 30 Years of Age: Differences in Disease Presentation and Rates of Positive Genetic Testing.
Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
Published: February 15, 2026
"It's not any one thing, it's always all of them, all at the same time": quality of life in NF2-related schwannomatosis from patient and clinician perspectives.
Journal: Familial cancer
Published: July 14, 2025
Reply to: Challenges in Assessing Response in Clinical Trials for Neurofibromatosis Type 1 Plexiform Neurofibromas.
Journal: Journal of clinical oncology : official journal of the American Society of Clinical Oncology
Published: March 19, 2025
ReNeu: A Pivotal, Phase IIb Trial of Mirdametinib in Adults and Children With Symptomatic Neurofibromatosis Type 1-Associated Plexiform Neurofibroma.
Journal: Journal of clinical oncology : official journal of the American Society of Clinical Oncology
Published: November 08, 2024
Brigatinib in NF2-Related Schwannomatosis with Progressive Tumors.
Journal: The New England journal of medicine
Published: June 21, 2024
Precision oncology in neurofibromatosis type 1: quantification of differential sensitivity to selumetinib in plexiform neurofibromas using single-cell RNA sequencing.
Journal: Journal of neuro-oncology
Published: March 31, 2024
Characterizing T-cell dysfunction and exclusion signatures in malignant peripheral nerve sheath tumors reveals susceptibilities to immunotherapy.
Journal: Journal of neuro-oncology
Published: August 27, 2023
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Journal: Human genetics
Published: July 06, 2023
Aortic Dissection in a Young Patient With Unsuspected Aortopathy.
Journal: Pediatrics
Published: March 13, 2023
Impact of integrated translational research on clinical exome sequencing.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 06, 2023
Last Updated: 09/26/2026