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Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis

Nephrology, dialysis, transplantation, 2016-06, Vol.31 (6), p.961-970

2016

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Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes

Frontiers in genetics, 2021-06, Vol.12, p.674295-674295

2021

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Modelling human genetic disorders in Xenopus tropicalis

Disease models & mechanisms, 2024-05, Vol.17 (5)

2024

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A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end‐stage kidney disease

Clinical genetics, 2023-02, Vol.103 (2), p.214-218

2023

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Impaired expression of metallothioneins contributes to allergen-induced inflammation in patients with atopic dermatitis

Nature communications, 2023-05, Vol.14 (1), p.2880-2880, Article 2880

2023

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A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency

Human mutation, 2023-04, Vol.2023, p.1-9

2023

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Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery

Genome medicine, 2024-10, Vol.16 (1), p.125-22, Article 125

2024

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Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

BMC nephrology, 2018-10, Vol.19 (1), p.301-301, Article 301

2018

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A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service

Healthcare (Basel), 2023-12, Vol.11 (24), p.3179

2023

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Challenges in the diagnosis and discovery of rare genetic disorders using contemporary sequencing technologies

Briefings in functional genomics, 2020-07, Vol.19 (4), p.243-258

2020

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Treatment of Multisystem Inflammatory Syndrome in Children: Understanding Differences in Results of Comparative Effectiveness Studies

ACR open rheumatology, 2022-09, Vol.4 (9), p.804-810

2022

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Thrombotic microangiopathy following haematopoietic stem cell transplant

Pediatric nephrology (Berlin, West), 2018-09, Vol.33 (9), p.1489-1500

2018

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NOD2 in Crohn’s Disease—Unfinished Business

Journal of Crohn's and colitis, 2023-04, Vol.17 (3), p.450-458

2023

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Exome sequencing explained: a practical guide to its clinical application

Briefings in functional genomics, 2016-09, Vol.15 (5), p.374-384

2016

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Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Genetics in medicine, 2020-06, Vol.22 (6), p.1005-1014

2020

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Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data

American journal of human genetics, 2023-09, Vol.110 (9), p.1496-1508

2023

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Response to Ramos et al

Genetics in medicine, 2022-12, Vol.24 (12), p.2593-2594

2022

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Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly

Journal of medical genetics, 2016-11, Vol.53 (11), p.735-742

2016

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The Pediatric Crohn Disease Morbidity Index (PCD-MI): Development of a Tool to Assess Long-Term Disease Burden Using a Data-Driven Approach

Journal of pediatric gastroenterology and nutrition, 2023-07, Vol.77 (1), p.70-78

2023

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Exome sequencing explained: a practical guide to its clinical application

Briefings in functional genomics, 2016-09, Vol.15 (5), p.374-384

2016

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Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm

Frontiers in pediatrics, 2017-05, Vol.5, p.113

2017

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A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes

Genetics in medicine, 2022-08, Vol.24 (8), p.1697-1707

2022

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Prediction of Crohn's Disease Stricturing Phenotype Using a NOD2-derived Genomic Biomarker

Inflammatory bowel diseases, 2023-04, Vol.29 (4), p.511-521

2023

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Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease

European journal of human genetics : EJHG, 2021-12, Vol.29 (12), p.1734-1744

2021

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A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases

Genes, 2023-08, Vol.14 (8), p.1582

2023

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Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis

Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes

Modelling human genetic disorders in Xenopus tropicalis

A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end‐stage kidney disease

Impaired expression of metallothioneins contributes to allergen-induced inflammation in patients with atopic dermatitis

A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency

Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service

Challenges in the diagnosis and discovery of rare genetic disorders using contemporary sequencing technologies

Treatment of Multisystem Inflammatory Syndrome in Children: Understanding Differences in Results of Comparative Effectiveness Studies

Thrombotic microangiopathy following haematopoietic stem cell transplant

NOD2 in Crohn’s Disease—Unfinished Business

Exome sequencing explained: a practical guide to its clinical application

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data

Response to Ramos et al

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly

The Pediatric Crohn Disease Morbidity Index (PCD-MI): Development of a Tool to Assess Long-Term Disease Burden Using a Data-Driven Approach

Exome sequencing explained: a practical guide to its clinical application

Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm

A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes

Prediction of Crohn's Disease Stricturing Phenotype Using a NOD2-derived Genomic Biomarker

Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease

A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases

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