Katrina A. Andrews

Hinxton, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 19 publications

Landscape of parental postzygotic mutations across >11,000 rare disease trios.

Landscape of parental postzygotic mutations across >11,000 rare disease trios.

Journal: American journal of human genetics

Published: September 16, 2025

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.

Journal: The New England journal of medicine

Published: April 12, 2023

Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome.

Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome.

Journal: Orphanet journal of rare diseases

Published: May 24, 2020

Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort.

Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort.

Journal: Clinical endocrinology

Published: February 06, 2020

Taking consent for neonatal microarray analysis as a screen for genomic rearrangements: are paediatricians equipped for the genomic era?

Taking consent for neonatal microarray analysis as a screen for genomic rearrangements: are paediatricians equipped for the genomic era?

Journal: Archives of disease in childhood

Published: September 08, 2019

Management of primary hyperparathyroidism in pregnancy: a case series.

Management of primary hyperparathyroidism in pregnancy: a case series.

Journal: Endocrinology, diabetes & metabolism case reports

Published: April 12, 2019

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Journal: The Journal of clinical investigation

Published: November 02, 2018

Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers.

Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers.

Journal: Clinical endocrinology

Published: October 22, 2018

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 19, 2018

Bayesian approach to determining penetrance of pathogenic SDH variants.

Bayesian approach to determining penetrance of pathogenic SDH variants.

Journal: Journal of medical genetics

Published: April 13, 2018

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Journal: The Journal of clinical investigation

Published: November 15, 2017

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Journal: Journal of medical genetics

Published: October 23, 2017

Showing 1-12 of 19

Last Updated: 09/26/2026