Schlebach, Jonathan P.

Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants

McDonald, E. F., Oliver, K. E., Schlebach, J. P., Meiler, J., & Plate, L. (2023) · PLoS ONE

Genomics and Rare DiseasesCystic Fibrosis Research Advances

Cited by 39

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants

McDonald, E. F., Oliver, K. E., Schlebach, J. P., Meiler, J., & Plate, L. (2024) · PLOS ONE

Genomics and Rare DiseasesCystic Fibrosis Research Advances

Cited by 39

Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter

Salazar, M. D., Zelt, N. B., Saldivar, R., Kuntz, C. P., Chen, S., Penn, W. D., Bonneau, R., Koehler Leman, J., & Schlebach, J. P. (2020) · Biochemistry

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 25