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Search results (152)

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Accurately modeling RNase H-mediated antisense oligonucleotide efficacy

Hill B. et al, (2026), Molecular Therapy Nucleic Acids, 37, 103004 - 103004

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs

D’Souza EN. et al, (2026)

Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders

LaFlamme CW. et al, (2026), Genome Medicine

Variant annotation across homologous proteins (“Paralogue Annotation”) identifies disease-causing missense variants with high precision, and is widely applicable across protein families

Li N. et al, (2026)

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders

De Jonghe J. et al, (2026), Nature, 654, 429 - 436

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Rius R. et al, (2026), Nature Genetics, 58, 1447 - 1447

A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery

McGuigan A. et al, (2026)

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Rius R. et al, (2026), Nature Genetics, 58, 761 - 773

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Leitão E. et al, (2026), Nature Genetics, 58, 782 - 797

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

Jackson A. et al, (2026), Nature Genetics, 58, 798 - 809

Regional nonsense constraint offers biological and clinical insights into genetic disease

Blakes AJM. et al, (2026), Nature Communications, 17

Influence of age and sex on the diagnostic yield of inherited cardiac conditions in sudden arrhythmic death syndrome decedents

Gray B. et al, (2026), European Journal of Preventive Cardiology, 33, 432 - 440

Modulating splicing in 5’ untranslated regions to treat rare haploinsufficient disease

Beer Wells ES. et al, (2025)

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

Gudmundsson S. et al, (2025), Nature Communications, 16

Accurately modelling RNase H-mediated antisense oligonucleotide efficacy

Hill B. et al, (2025)

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