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Screening of potential novel candidate genes in schwannomatosis patients

Human mutation, 2022-10, Vol.43 (10), p.1368-1376

2022

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Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

BMC medical genetics, 2016-01, Vol.17 (1), p.1, Article 1

2016

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Extensive gene conversion at the PMS2 DNA mismatch repair locus

Human mutation, 2007-05, Vol.28 (5), p.424-430

2007

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Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss

Archives of disease in childhood, 2011-09, Vol.96 (9), p.798-803

2011

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The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians

Genetic testing and molecular biomarkers, 2012-05, Vol.16 (5), p.453-455

2012

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Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Nature communications, 2015-09, Vol.6 (1), p.8111-8111, Article 8111

2015

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Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access

Journal of medical genetics, 2024-09, p.jmg-2024-110228

2024

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Temporal trends in the epidemiology of childhood severe visual impairment and blindness in the UK

British journal of ophthalmology, 2023-05, Vol.107 (5), p.717-724

2023

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Contemporary Youth Culture: An International Encyclopedia

Reference Reviews, 2006, Vol.20 (8), p.13-14

Charlton, Ruth

2006

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Blackwell Companion to Social Inequalities

Reference Reviews, 2006, Vol.20 (4), p.17-17

Charlton, Ruth

2006

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Clinical considerations and endocrinological implications in the detransition process

Baillière's best practice & research. Clinical endocrinology & metabolism, 2024-09, Vol.38 (5), p.101932, Article 101932

2024

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The novel ATR inhibitor VE-821 increases sensitivity of pancreatic cancer cells to radiation and chemotherapy

Cancer biology & therapy, 2012-09, Vol.13 (11), p.1072-1081

2012

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Functional measures on PEDI are associated with BSID-3 scales at 2 years, following neonatal surgery

Early human development, 2023-10, Vol.185, p.105854-105854, Article 105854

2023

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Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria

Scientific reports, 2022-02, Vol.12 (1), p.2507-2507, Article 2507

2022

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Immunogenicity, safety, and reactogenicity of heterologous COVID-19 primary vaccination incorporating mRNA, viral-vector, and protein-adjuvant vaccines in the UK (Com-COV2): a single-blind, randomised, phase 2, non-inferiority trial

The Lancet (British edition), 2022-01, Vol.399 (10319), p.36-49

2022

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Sars-Cov-2 Antibody and T-Cell Responses in Patients with Paroxysmal Nocturnal Hemoglobinuria and Aplastic Anemia after Four COVID-19 Vaccinations

Blood, 2023-11, Vol.142 (Supplement 1), p.2712-2712

2023

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Hidradenitis Suppurativa and Thyroid Disease: Systematic Review and Meta-Analysis

Journal of cutaneous medicine and surgery, 2020-01, Vol.24 (1), p.23-27

2020

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Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface

Human mutation, 2014-04, Vol.35 (4), p.434-441

2014

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Transcriptional analysis identifies potential novel biomarkers associated with successful ex‐vivo perfusion of human donor lungs

Clinical transplantation, 2022-04, Vol.36 (4), p.e14570-n/a

2022

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Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

Journal of medical genetics, 2023-11, Vol.61 (4), p.347-355

2023

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An Obesity Dietary Quality Index Predicts Abdominal Obesity in Women: Potential Opportunity for New Prevention and Treatment Paradigms

Journal of Obesity, 2010-01, Vol.2010 (2010), p.334-342

2010

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LEAPT: Lectin-Directed Enzyme-Activated Prodrug Therapy

Proceedings of the National Academy of Sciences - PNAS, 2004-10, Vol.101 (40), p.14527-14532

2004

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77 Antenatal MgS04 in very preterm babies is not related to improved 36 month neurodevelopmental outcomes once accounting for neonatal interventions

Paediatrics & child health, 2024-10, Vol.29 (Supplement_1), p.e40-e40

2024

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Screening of potential novel candidate genes in schwannomatosis patients

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Extensive gene conversion at the PMS2 DNA mismatch repair locus

Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss

The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access

Temporal trends in the epidemiology of childhood severe visual impairment and blindness in the UK

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Contemporary Youth Culture: An International Encyclopedia

Blackwell Companion to Social Inequalities

Clinical considerations and endocrinological implications in the detransition process

The novel ATR inhibitor VE-821 increases sensitivity of pancreatic cancer cells to radiation and chemotherapy

Functional measures on PEDI are associated with BSID-3 scales at 2 years, following neonatal surgery

Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria

Immunogenicity, safety, and reactogenicity of heterologous COVID-19 primary vaccination incorporating mRNA, viral-vector, and protein-adjuvant vaccines in the UK (Com-COV2): a single-blind, randomised, phase 2, non-inferiority trial

Sars-Cov-2 Antibody and T-Cell Responses in Patients with Paroxysmal Nocturnal Hemoglobinuria and Aplastic Anemia after Four COVID-19 Vaccinations

Hidradenitis Suppurativa and Thyroid Disease: Systematic Review and Meta-Analysis

Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface

Transcriptional analysis identifies potential novel biomarkers associated with successful ex‐vivo perfusion of human donor lungs

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

An Obesity Dietary Quality Index Predicts Abdominal Obesity in Women: Potential Opportunity for New Prevention and Treatment Paradigms

LEAPT: Lectin-Directed Enzyme-Activated Prodrug Therapy

77 Antenatal MgS04 in very preterm babies is not related to improved 36 month neurodevelopmental outcomes once accounting for neonatal interventions

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