Publications by authors named "A J MacLennan"

Supraventricular tachycardia (SVT) is a narrow QRS complex tachyarrhythmia with a heart rate above 220 beats per minute in infants and children. Ventricular tachycardia can be due to electrolyte abnormalities, cardiomyopathies, congenital heart disease, myocarditis or drug toxicity. Incidence has been estimated to be 1 in 250 to 1 in 1000 with spontaneous resolution in infants by one year of life.

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Purpose: The gold standard for identification of post-zygotic variants (PZVs) is droplet digital polymerase chain reaction or high-depth sequencing across multiple tissues types. These approaches are yet to be systematically implemented for monogenic disorders. We developed PZV detection pipelines for correct classification of de novo variants.

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Cerebral palsy (CP) is the most common motor disability in children. To ascertain the role of major genetic variants in the etiology of CP, we conducted exome sequencing on a large-scale cohort with clinical manifestations of CP. The study cohort comprised 505 girls and 1,073 boys.

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Objectives: The aim of this research was to acquire knowledge about the female dental workforce, identifying factors to pursue specialty training and career choices and working in dental institutions/associations.

Methods: An original online questionnaire was developed, validated (n = 22), and sent to 189 member associations in 133 countries of the Women Dentists Worldwide section of the FDI World Dental Federation.

Results: In all, 3232 female dentists from 81 countries participated.

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