Barbara Bosch

Characterizing and explaining the impact of disease-associated mutations in proteins without known structures or structural homologs

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants

Lumacaftor/Ivacaftor: A Review in Cystic Fibrosis

CADD: predicting the deleteriousness of variants throughout the human genome

A robust model of brackish water electrodialysis desalination with experimental comparison at different size scales

Fluorine and Fluorinated Motifs in the Design and Application of Bioisosteres for Drug Design

Sustainable technologies for water purification from heavy metals: review and analysis

PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations

Exome and genome sequencing for inborn errors of immunity

Searching for a cure for cystic fibrosis. A 25-year quest in a nutshell

Lessons learned from the study of human inborn errors of innate immunity

On the experimental verification of an electrodialysis simulation model for optimal stack configuration design through solver software