Sunita M. De Sousa
Adelaide, SA, Australia
Last Updated: 09/26/2026
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Found 17 publications
Genetic testing in pituitary adenomas: a Pituitary Society International Consensus Statement.
Journal: Nature reviews. Endocrinology
Published: July 27, 2026
Evaluating NGS variant callers in a challenging genomic context with a focus on the PRSS1-PRSS2 locus for hereditary pancreatitis.
Journal: Gut
Published: September 21, 2025
Non-penetrant Xq26.3 duplication involving the invariant TAD border: clinical evidence for the VGLL1 region as the GPR101 pituitary enhancer of X-linked acrogigantism.
Journal: Pituitary
Published: July 11, 2025
Improving detection of monogenic diabetes through reanalysis of GCK variants of uncertain significance.
Journal: Acta diabetologica
Published: December 12, 2024
Australian and New Zealand joint society consensus statement on genetic testing for monogenic diabetes in adults.
Journal: The Medical journal of Australia
Published: November 01, 2024
Tumour fibrosis in dopamine agonist-exposed prolactinomas is a diminishing concern.
Journal: Nature reviews. Endocrinology
Published: March 21, 2024
Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.
Journal: Acta diabetologica
Published: July 10, 2023
A contemporary clinical approach to genetic testing for heritable hyperparathyroidism syndromes.
Journal: Endocrine
Published: October 14, 2021
The clinical and genetic features of hereditary pancreatitis in South Australia.
Journal: The Medical journal of Australia
Published: August 09, 2021
The Genomic Landscape of Sporadic Prolactinomas.
Journal: Endocrine pathology
Published: September 02, 2019
Last Updated: 09/26/2026