Collaborator: Emory University

• Germline Pathogenic/Likely Pathogenic (P/LP) Variants in Epithelial Neuroendocrine Neoplasms: The Case for Universal Germline Genetic Testing

  Presenting Author: Udhayvir Singh Grewal, MD at Emory University

  August 3, 2026

• Clinically important endpoints in individuals with leukodystrophy: A multisite study

• Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy

• Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels

• Benefits, limitations, and impacts of reproductive carrier screening and telehealth-based genetic counseling for individuals with an increased chance to have a child with a genetic condition

• Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program

• Recurrent mutation N383S and rare variants in PRKCI are causal for orofacial clefting and other phenotypes

  April 2, 2026

• Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder

• Recommendations for Risk Allele Evidence Curation, Classification, and Reporting from the ClinGen Low Penetrance/Risk Allele Working Group

• Expanding cohort of individuals with p.V142I homozygous alterations suggests presentation onset similar to heterozygotes

  April 2, 2026