Ankit M Arni
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View article: Common genetic variants modify disease risk and clinical presentation in monogenic diabetes
Common genetic variants modify disease risk and clinical presentation in monogenic diabetes Open
View article: Ovarian response in natural cycle, minimal stimulation and conventional IVF protocols in relation to anti-mullerian hormone level – A multi-center study
Ovarian response in natural cycle, minimal stimulation and conventional IVF protocols in relation to anti-mullerian hormone level – A multi-center study Open
View article: Polygenic Background Contributes to GCK-MODY Clinical Presentation and Glycaemic Variability
Polygenic Background Contributes to GCK-MODY Clinical Presentation and Glycaemic Variability Open
Aims/Hypothesis GCK-MODY (Glucokinase-Maturity Onset Diabetes of the Young) causes lifelong, mild hyperglycaemia with high penetrance. Variation in glycaemic phenotype among carriers remains unexplained. We hypothesised that polygenic back…
View article: Medullary Thyroid Cancer Risk and Mortality in Carriers of Incidentally Identified MEN2A <i>RET</i> Variants
Medullary Thyroid Cancer Risk and Mortality in Carriers of Incidentally Identified MEN2A <i>RET</i> Variants Open
Importance RET germline pathogenic variants cause multiple endocrine neoplasia type 2 (MEN2), which is associated with medullary thyroid cancer. With increasing incidental identification of these variants in asymptomatic individuals outsid…
View article: Reassessing the role of the p.(Arg304Gln) missense <i>AIP</i> variant in pituitary tumorigenesis
Reassessing the role of the p.(Arg304Gln) missense <i>AIP</i> variant in pituitary tumorigenesis Open
Objective Heterozygous germline loss-of-function variants in AIP are associated with young-onset growth hormone and/or prolactin-secreting pituitary tumours. However, the pathogenic role of the c.911G > A; p.(Arg304Gln) (R304Q) AIP vari…
View article: Common Genetic Variants Modify Disease Risk and Clinical Presentation in Monogenic Diabetes
Common Genetic Variants Modify Disease Risk and Clinical Presentation in Monogenic Diabetes Open
The contribution of polygenic background in young onset monogenic disorders needs further exploration. Understanding this will provide new biological insights and may improve risk prediction of monogenic disease. Here we investigated the r…
View article: Type 1 diabetes genetic risk score variation across ancestries using whole genome sequencing and array-based approaches
Type 1 diabetes genetic risk score variation across ancestries using whole genome sequencing and array-based approaches Open
A Type 1 Diabetes Genetic Risk Score (T1DGRS) aids diagnosis and prediction of Type 1 Diabetes (T1D). While traditionally derived from imputed array genotypes, Whole Genome Sequencing (WGS) provides a more direct approach and is now increa…
View article: Mutation Spectrum and Associated Risks of Medullary Thyroid Cancer and All-Cause Mortality in Incidentally Identified MEN2A-Causing<i>RET</i>Variants
Mutation Spectrum and Associated Risks of Medullary Thyroid Cancer and All-Cause Mortality in Incidentally Identified MEN2A-Causing<i>RET</i>Variants Open
Importance RET pathogenic variants cause Multiple Endocrine Neoplasia type 2 (MEN2), characterised by medullary thyroid cancer (MTC). With increasing incidental identification of these variants in asymptomatic individuals outside family sc…
View article: Beyond Arrays: Leveraging Whole Genome Sequencing to provide insights into Type 1 Diabetes risk in the population
Beyond Arrays: Leveraging Whole Genome Sequencing to provide insights into Type 1 Diabetes risk in the population Open
A Type 1 Diabetes Genetic Risk Score (T1DGRS) aids diagnosis and prediction of Type 1 Diabetes (T1D). While traditionally derived from imputed array genotypes, Whole Genome Sequencing (WGS) provides a more direct approach and is used incre…