Last Updated: 09/26/2026
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Found 31 publications
Analyzing the Impact of Racial and Ethnic Background on Timeline of Receiving a Confirmatory Genetic Test in Children With Epilepsy: An Investigation Using Survival Analysis.
Journal: Journal of child neurology
Published: June 13, 2025
A patient with newly diagnosed breast cancer found to have mosaic TP53 likely pathogenic variant.
Journal: CA: a cancer journal for clinicians
Published: April 30, 2025
Video Education Is an Acceptable Alternative to Pretest Genetic Counseling for Patients With Breast, Ovarian, Pancreatic, and Metastatic Prostate Cancer: Results From a Randomized Study.
Journal: JCO oncology practice
Published: April 10, 2025
Noonan Syndrome and Rett Syndrome in An 8-Year-Old Girl With A Tectal Neoplasm.
Journal: JCEM case reports
Published: March 27, 2025
Case Report: Hereditary spastic paraplegia associated with monoallelic variant in the motor domain of KIF1A.
Journal: Frontiers in human neuroscience
Published: January 29, 2025
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Journal: American journal of human genetics
Published: May 15, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Journal: American journal of human genetics
Published: May 09, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Journal: American journal of human genetics
Published: March 20, 2024
Authors' response to: "Alexander disease genetics: Beyond GFAP exon sequencing?"
Journal: Journal of neuropathology and experimental neurology
Published: November 22, 2023
Inflammatory Arthritis in a 19-month-old with Von Hippel-Lindau Disease.
Journal: Rhode Island medical journal (2013)
Published: May 17, 2023
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.
Journal: medRxiv : the preprint server for health sciences
Published: April 10, 2023
Last Updated: 09/26/2026