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Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Jenny C. Taylor, Hilary C. Martin, Stefano Lise, +105

Nature Genetics

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A blood atlas of COVID-19 defines hallmarks of disease severity and specificity

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Cell

Severity of disease and risk of malignant change in hereditary multiple exostoses

D Porter, Lorne Lonie, Maria Fraser, +4

Journal of Bone and Joint Surgery - British Volume

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Netherton Syndrome: Disease Expression and Spectrum of SPINK5 Mutations in 21 Families

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Journal of Investigative Dermatology

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Prevalence of persistent SARS-CoV-2 in a large community surveillance study

Mahan Ghafari, Matthew Hall, Tanya Golubchik, +24

Nature

Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

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Nature Communications

Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses

Carol Dobson‐Stone, Roger Cox, Lorne Lonie, +8

European Journal of Human Genetics

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Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

Stephen R.F. Twigg, Christian Babbs, Marijke E.P. van den Elzen, +17

Human Molecular Genetics

Determination of the mutation spectrum of the<i>EXT1/EXT2</i>genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in<i>EXT</i>negative cases

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Human Mutation

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