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Genomic and Molecular Analyses Identify Molecular Subtypes of Pancreatic Cancer Recurrence

Gastroenterology (New York, N.Y. 1943), 2022-01, Vol.162 (1), p.320-324.e4

2022

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Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease

Genetics in medicine, 2019-04, Vol.21 (4), p.982-986

2019

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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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Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

Scientific reports, 2021-10, Vol.11 (1), p.20607-20607, Article 20607

2021

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The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer

British journal of cancer, 2022-07, Vol.127 (1), p.137-144

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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Assessing the digenic model in rare disorders using population sequencing data

European journal of human genetics : EJHG, 2022-12, Vol.30 (12), p.1439-1443

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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Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features

Nature genetics, 2022-11, Vol.54 (11), p.1675-1689

2022

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Human and mouse essentiality screens as a resource for disease gene discovery

Nature communications, 2020-01, Vol.11 (1), p.655-16, Article 655

2020

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Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping

Genome medicine, 2023-07, Vol.15 (1), p.47-18, Article 47

2023

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Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease

Kidney international, 2023-11, Vol.104 (5), p.975-984

2023

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Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1

Journal of medical genetics, 2023-05, Vol.60 (5), p.505-510

2023

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Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project

Journal of medical genetics, 2022-08, Vol.59 (8), p.737-747

2022

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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.1151-1164

2022

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Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project

Journal of medical genetics, 2023-12, Vol.60 (12), p.1235-1244

2023

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Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project

Frontiers in genetics, 2019-03, Vol.10, p.127

2019

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Cerebral visual impairment: genetic diagnoses and phenotypic associations

Journal of medical genetics, 2024-06, Vol.61 (6), p.605-612

2024

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Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

Genetics in medicine, 2021-02, Vol.23 (2), p.408-414

2021

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EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders

Journal of medical genetics, 2023-08, Vol.60 (8), p.810-818

2023

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Variable skeletal phenotypes associated with biallelic variants in PRKG2

Journal of medical genetics, 2022-10, Vol.59 (10), p.947-950

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.712-716

2023

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A founder UMOD variant is a common cause of hereditary nephropathy in the British population

Journal of medical genetics, 2023-04, Vol.60 (4), p.397-405

2023

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Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity

Genomic and Molecular Analyses Identify Molecular Subtypes of Pancreatic Cancer Recurrence

Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer

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

Assessing the digenic model in rare disorders using population sequencing data

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

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

Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features

Human and mouse essentiality screens as a resource for disease gene discovery

Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping

Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1

Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project

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

Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project

Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project

Cerebral visual impairment: genetic diagnoses and phenotypic associations

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders

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

A founder UMOD variant is a common cause of hereditary nephropathy in the British population

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