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Search results (245)

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Hypertrophic cardiomyopathy caused by Filamin-C (FLNC) variants has restrictive and extracardiac features and a distinctive ECG

de Villiers C. et al, (2026), Heart Rhythm

Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency.

Watts LM. et al, (2025), Clinical genetics, 108, 479 - 485

Circulating tumour DNA to augment PET-CT in determining clinical outcome after head and neck cancer treatment

Bola S. et al, (2025), European Journal of Cancer, 227, 115626 - 115626

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.

Walker S. et al, (2025), Genetics in medicine : official journal of the American College of Medical Genetics, 27

Cryptic CBFB Deletion–Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia

Pagnamenta AT. et al, (2025), Clinical Genetics, 108, 86 - 91

The Rare Therapies Launchpad: a pilot program for individualized medicines in the UK

O’Connor DJ. et al, (2025), Nature Medicine, 31, 1379 - 1380

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

Aughey GN. et al, (2025), Brain, 148, 1194 - 1211

Rare disease gene association discovery in the 100,000 Genomes Project

Cipriani V. et al, (2025), Nature

Hiding in plain sight: a partial deletion of BRCA1 exon 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), Journal of Experimental Medicine, 222

Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans

Hashimoto AS. et al, (2025), Genetics in Medicine Open, 3, 103427 - 103427

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

Walker S. et al, (2025), GENETICS IN MEDICINE, 27

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

n autosomal dominant cardiac arrhythmia syndrome, ST Depression Syndrome, is caused by the de novo creation of a cardiomyocyte enhancer

de Villiers CP. et al, (2024)

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