Search results (49)
« Back to PublicationsFragmenstein: predicting protein-ligand structures of compounds derived from known crystallographic fragment hits using a strict conserved-binding-based methodology.
Journal article
Ferla MP. et al, (2025), J Cheminform, 17
Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.
Journal article
Blanco E. et al, (2025), J Exp Med, 222
Crystal structure of Fatty Acid Thioesterase A bound by 129 fragments provides diverse development opportunities
Preprint
Kot E. et al, (2024)
De novo variants in DENND5B cause a neurodevelopmental disorder.
Journal article
Scala M. et al, (2024), Am J Hum Genet, 111, 529 - 543
Enabling equitable and affordable access to novel therapeutics for pandemic preparedness and response via creative intellectual property agreements.
Journal article
Griffen EJ. et al, (2024), Wellcome Open Res, 9
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Journal article
Maroofian R. et al, (2023), Brain, 146, 5031 - 5043
Open science discovery of potent noncovalent SARS-CoV-2 main protease inhibitors.
Journal article
Boby ML. et al, (2023), Science, 382
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Journal article
Pagnamenta AT. et al, (2023), Genome Med, 15
The prevalence and phenotypic range associated with biallelic PKDCC variants.
Journal article
Pagnamenta AT. et al, (2023), Clin Genet, 104, 121 - 126
Turning high-throughput structural biology into predictive inhibitor design.
Journal article
Saar KL. et al, (2023), Proc Natl Acad Sci U S A, 120
Iterative computational design and crystallographic screening identifies potent inhibitors targeting the Nsp3 macrodomain of SARS-CoV-2.
Journal article
Gahbauer S. et al, (2023), Proc Natl Acad Sci U S A, 120
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Journal article
Cali E. et al, (2023), Genet Med, 25, 135 - 142
Variable skeletal phenotypes associated with biallelic variants in PRKG2.
Journal article
Pagnamenta AT. et al, (2022), J Med Genet, 59, 947 - 950
