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Understanding general practitioner and pharmacist preferences for pharmacogenetic testing in primary care: a discrete choice experiment

The pharmacogenomics journal, 2024-10, Vol.24 (5), p.25, Article 25

2024

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Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive Care

JAMA pediatrics, 2022-05, Vol.176 (5), p.486

2022

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A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer

American journal of human genetics, 2018-08, Vol.103 (2), p.213-220

2018

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Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

American journal of human genetics, 2021-11, Vol.108 (11), p.2195-2204

2021

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The Genomic Architecture of Bladder Exstrophy Epispadias Complex

Genes, 2021-07, Vol.12 (8), p.1149

2021

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Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency

Reproductive biomedicine online, 2021-11, Vol.43 (5), p.899-902

2021

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Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome

Clinical genetics, 2022-02, Vol.101 (2), p.255-259

2022

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Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome

British journal of dermatology (1951), 2022-12, Vol.187 (6), p.948-961

2022

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Loss-of-function variants in myocardin cause congenital megabladder in humans and mice

The Journal of clinical investigation, 2019-12, Vol.129 (12), p.5374-5380

2019

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Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder

Frontiers in genetics, 2022-06, Vol.13, p.896125-896125

2022

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22q11.2 duplications in a UK cohort with bladder exstrophy–epispadias complex

American journal of medical genetics. Part A, 2019-03, Vol.179 (3), p.404-409

2019

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A homozygous missense variant in CHRM3 associated with familial urinary bladder disease

Clinical genetics, 2019-12, Vol.96 (6), p.515-520

2019

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Narrowing the chromosome 22q11.2 locus duplicated in bladder exstrophy-epispadias complex

Journal of pediatric urology, 2022-06, Vol.18 (3), p.362.e1-362.e8

2022

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Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations

European journal of medical genetics, 2020-09, Vol.63 (9), p.103974-103974, Article 103974

2020

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Early B-cell Factor 3–Related Genetic Disease Can Mimic Urofacial Syndrome

Kidney international reports, 2020-10, Vol.5 (10), p.1823-1827

2020

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Neurogenic Defects Occur in LRIG2-Associated Urinary Bladder Disease

Kidney international reports, 2023-07, Vol.8 (7), p.1417-1429

2023

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Hereditary renal cancer patient and public involvement group: A collaborative, consensus decision process to develop a communication tool for patient use

Journal of clinical and translational science, 2023, Vol.7 (1), p.e115-e115, Article e115

2023

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Investigation into the potential for hypoxic interior of neoplasms to enhance HSPA expression in glioma

Molecular and cellular biochemistry, 2014-09, Vol.394 (1-2), p.53-58

2014

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SLC20A1 Is Involved in Urinary Tract and Urorectal Development

Frontiers in cell and developmental biology, 2020-08, Vol.8, p.567-567

2020

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Hereditary Alpha-Tryptasemia: UK Prevalence and Variability in Disease Expression

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2020-11, Vol.8 (10), p.3549-3556

2020

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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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Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome

Clinical genetics, 2017-02, Vol.91 (2), p.328-332

2017

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Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects

Clinical genetics, 2022-01, Vol.101 (1), p.127-133

2022

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Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction

American journal of human genetics, 2019-05, Vol.104 (5), p.994-1006

2019

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3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum

Clinical dysmorphology, 2023-01, Vol.32 (1), p.7

2023

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Understanding general practitioner and pharmacist preferences for pharmacogenetic testing in primary care: a discrete choice experiment

Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive Care

A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

The Genomic Architecture of Bladder Exstrophy Epispadias Complex

Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency

Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome

Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder

22q11.2 duplications in a UK cohort with bladder exstrophy–epispadias complex

A homozygous missense variant in CHRM3 associated with familial urinary bladder disease

Narrowing the chromosome 22q11.2 locus duplicated in bladder exstrophy-epispadias complex

Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations

Early B-cell Factor 3–Related Genetic Disease Can Mimic Urofacial Syndrome

Neurogenic Defects Occur in LRIG2-Associated Urinary Bladder Disease

Hereditary renal cancer patient and public involvement group: A collaborative, consensus decision process to develop a communication tool for patient use

Investigation into the potential for hypoxic interior of neoplasms to enhance HSPA expression in glioma

SLC20A1 Is Involved in Urinary Tract and Urorectal Development

Hereditary Alpha-Tryptasemia: UK Prevalence and Variability in Disease Expression

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

Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome

Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects

Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction

3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum

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