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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

Nature communications, 2022-11, Vol.13 (1), p.6324-6324, Article 6324

2022

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Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome

Scientific reports, 2022-02, Vol.12 (1), p.2722-13, Article 2722

2022

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Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project

Human genetics, 2023-03, Vol.142 (3), p.351-362

2023

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Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update

European journal of human genetics : EJHG, 2022-03, Vol.30 (3), p.265-270

2022

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A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)

Scientific reports, 2023-06, Vol.13 (1), p.9369-12, Article 9369

2023

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Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach

Journal of medical genetics, 2022-12, Vol.59 (12), p.1151

2022

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Variable skeletal phenotypes associated with biallelic variants in PRKG2

Journal of medical genetics, 2022-10, Vol.59 (10), p.947

2022

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Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function

Journal of medical genetics, 2023-07, Vol.60 (7), p.712

2023

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Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

Journal of medical genetics, 2022-04, Vol.59 (4), p.366

2022

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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome

Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project

Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)

Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach

Variable skeletal phenotypes associated with biallelic variants in PRKG2

Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

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