Last Updated: 09/26/2026
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Found 29 publications
Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range.
Journal: medRxiv : the preprint server for health sciences
Published: February 24, 2025
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range.
Journal: American journal of human genetics
Published: February 03, 2025
Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic Medicine.
Journal: The Journal of molecular diagnostics : JMD
Published: February 03, 2025
Comprehensive Analysis of TEK Variants in Patients With Vascular Malformations.
Journal: Clinical genetics
Published: August 21, 2024
Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism.
Journal: Clinical genetics
Published: August 04, 2024
Innovations in Short-Read Sequencing Technologies and Their Applications to Clinical Genomics.
Journal: Clinical chemistry
Published: June 12, 2024
Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure.
Journal: American journal of respiratory cell and molecular biology
Published: December 29, 2023
Genomic landscape of TP53-mutated myeloid malignancies.
Journal: Blood advances
Published: March 08, 2023
Intraosseous hibernoma: clinicopathologic and imaging analysis of 18 cases.
Journal: Histopathology
Published: March 02, 2023
Genomic landscape of TP53 -mutated myeloid malignancies.
Journal: medRxiv : the preprint server for health sciences
Published: January 30, 2023
Profiling PIK3CA variants in disorders of somatic mosaicism.
Journal: Genetics in medicine open
Published: January 03, 2023
Last Updated: 09/26/2026