Robert G. Legg

A Hormone Cell Atlas maps the human endocrine system at cellular resolution.

Lijiang Fei, Isabel Huang‐Doran, Katherine Lawler, Yizhou Yu et autres

Hormones act across tissues and organs to coordinate physiological functions. Drawing inspiration from the Human Cell Atlas, we analyzed the expression of 379 hormone and receptor genes in a transcriptomic dataset comprising 14 million single cells and nuclei across 47 human tissues. …

A Hormone Cell Atlas maps the human endocrine system at cellular resolution

Lijiang Fei, Isabel Huang‐Doran, Katherine Lawler, Yizhou Yu et autres

Hormones act across tissues and organs to coordinate physiological functions. Drawing inspiration from the Human Cell Atlas, we analyzed the expression of 379 hormone and receptor genes in a transcriptomic dataset comprising 14 million single cells and nuclei across 47 human tissues. …

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S151 When to test for birt-hogg-dubé syndrome? UK national data

FF Yasin, Robert G. Legg, Christoph Schmid, Stefan John Marciniak

Background Birt-Hogg-Dubé syndrome (BHD) is the commonest monogenic cause of pneumothorax. Caused by pathogenic variants within FLCN it can manifest as pneumothorax, pulmonary cysts, and skin features including fibrofolliculomas. Affected families are at increased risk of renal malignancy and diagnosis permits lifesaving …

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When to test for Birt-Hogg-Dubé Syndrome? UK national data

Froher Yasin, Robert G. Legg, Cosima Meret Schmid, Simon T. Holden et autres

Background: Birt-Hogg-Dubé syndrome (BHD) is the commonest monogenic cause of pneumothorax. Caused by pathogenic variants within FLCN it can manifest as pneumothorax, pulmonary cysts, and skin features like fibrofolliculomas. Affected families are at increased risk of renal malignancy and diagnosis permits lifesaving …

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Information resources in clinical genetics

Robert G. Legg

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An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

Emily C. Woods, Nadine Holmes, Anne‐Sophie Denommé‐Pichon, Marie Vincent et autres

Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi-natural history data-from multiple individuals of …

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Management of Pediatric Thoracic Empyema in the North Queensland Region of Australia and Impact of a Local Evidence-based Treatment Guideline

Anil K. Gautam, Greg Wiseman, Robert G. Legg, Daniel Lindsay et autres

Aim: The North Queensland region of Australia has a high incidence of pediatric thoracic empyema (pTE). We describe the management of empyema at the Townsville University Hospital which is the regional referral center for these children. The impact of a newly developed …

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Predicting novel candidate human obesity genes and their site of action by systematic functional screening in Drosophila

Neha Agrawal, Katherine Lawler, Catherine M. Davidson, Julia M. Keogh et autres

The discovery of human obesity-associated genes can reveal new mechanisms to target for weight loss therapy. Genetic studies of obese individuals and the analysis of rare genetic variants can identify novel obesity-associated genes. However, establishing a functional relationship between these candidate genes …

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The prevalence of hyperkalemia and associated clinical characteristics and outcomes among hospitalized COVID-19 patients

Abiy Agiro, Richard D. C. Moon, Ning An Rosenthal, Harold Brown et autres

Inpatient toxicology services improve resource utilization for intoxicated patients: a systematic review

Robert G. Legg, Mark Little

AIMS: Presentations of intoxicated patients to hospital are frequent and increasing. We aimed to review the existing evidence that the presence of inpatient clinical toxicology services reduces use of resources without impacting on the care of these patients. METHODS: We conducted a …

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