The Rare Therapies Launchpad: a pilot program for individualized medicines in the UK
O’Connor DJ. et al, (2025), Nature Medicine
Rare disease gene association discovery in the 100,000 Genomes Project
Cipriani V. et al, (2025), Nature
A Cryptic CBFB Deletion–Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia
Pagnamenta AT. et al, (2025), Clinical Genetics
Hiding in plain sight: a partial deletion ofBRCA1exon 7 undetectable by MLPA is a Nepali founder variant
Clowes V. et al, (2025), Journal of Medical Genetics, 62, 54 - 56
Fragmenstein: predicting protein–ligand structures of compounds derived from known crystallographic fragment hits using a strict conserved-binding–based methodology
Ferla MP. et al, (2025), Journal of Cheminformatics, 17
Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.
Blanco E. et al, (2025), The Journal of experimental medicine, 222
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder
Aughey GN. et al, (2024), Brain
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus
Maroofian R. et al, (2024), Human Genetics and Genomics Advances, 5, 100352 - 100352
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
Pagnamenta AT. et al, (2024), The American Journal of Human Genetics, 111, 1140 - 1164
<i>FILIP1</i>-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.
Watts LM. et al, (2024), Brain communications, 6
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Taylor J. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 828 - 829
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100,000 Genomes Project
Moore R. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 600 - 601
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
Pagnamenta A. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 820 - 821
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Cipriani V. et al, (2023)
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R. et al, (2023), Brain : a journal of neurology, 146, 5031 - 5043
Open science discovery of potent noncovalent SARS-CoV-2 main protease inhibitors
Boby ML. et al, (2023), Science, 382
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Pagnamenta AT. et al, (2023), Genome Medicine, 15
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Moore AR. et al, (2023), Journal of medical genetics, 60, 1235 - 1244