Long-read Sequencing to Assess an Expanded Repeat in C9orf72

Applying targeted long-read sequencing to assess an expanded repeat in C9orf72Подробнее

A novel genetic marker to detect C9orf72 repeat expansion carriersПодробнее

Optical mapping & long-read sequencing decipher structural composition of ATXN10 repeat expansionПодробнее

Targeted long-read sequencing clarifies complex genetic results and identifies missing variantsПодробнее

Long-read Sequencing and Optical Mapping of ATXN10 Repeat ExpansionПодробнее

Multiplex, Long-Read Sequencing of Ataxia Repeat ExpansionsПодробнее

Characterizing C9orf72 repeat expansions and transcripts using HiFi sequencingПодробнее

Ira Deveson: Towards comprehensive genetic diagnosis of repeat expansion disordersПодробнее

Solving genetically undiagnosed inherited neuropathy families: long-read sequencing to the rescueПодробнее

How does C9orf72 expansion impact protein degradation pathways in FTLD and ALS?Подробнее

Long-read Sequencing for Disease Genome Analysis: Our ExperiencesПодробнее

Innovating and improving genome diagnostics using targeted long-read sequencingПодробнее

A-T and C9orf72 repeat expansionПодробнее

c9ORF72Подробнее

The C9orf72 Repeat Expansion in Broad Population ScreensПодробнее

Long-Read Genome Sequencing for the Molecular Understanding of Neurodevelopmental DisordersПодробнее

Streamlining clinical genetic testing: the promise of long-read sequencingПодробнее

Integrated Rare Disease using Long-Read Genome SequencingПодробнее

S. Pickering-Brown - Cellular modeling of the C9orf72 repeat expansionПодробнее