Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency.
Watts LM. et al, (2025), Clinical genetics
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
<i>FILIP1</i>-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.
Watts LM. et al, (2024), Brain communications, 6
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
RAS-pathway mutations are common in patients with ruxolitinib refractory/intolerant myelofibrosis: molecular analysis of the PAC203 cohort.
O'Sullivan JM. et al, (2023), Leukemia
Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).
Deignan JL. et al, (2023), Genetics in medicine : official journal of the American College of Medical Genetics, 25
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
Genome sequencing identifies KMT2E-disrupting cryptic structural variant in a female with O'Donnell-Luria-Rodan syndrome.
Hashim M. et al, (2023), Clinical genetics
A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency
Pagnamenta AT. et al, (2023), Human Mutation, 2023, 1 - 9
The prevalence and phenotypic range associated with biallelic PKDCC variants
Pagnamenta AT. et al, (2023), Clinical Genetics
Turning high-throughput structural biology into predictive inhibitor design.
Saar KL. et al, (2023), Proceedings of the National Academy of Sciences of the United States of America, 120