Author

Evanthia O. Madelli

Observed names: E. O. Madelli, Evanthia O Madelli, Evanthia Olympia Madelli

Institutions: Murdoch Children's Research Institute, Australian Genomics Health Alliance

Observed institutions: Royal Prince Alfred Hospital, Townsville Hospital, International Society for Quality in Health Care, Sydney Children's Hospital, Sydney Children’s Hospitals Network, Murdoch Children's Research Institute, Australian Genomics Health Alliance, NSW Health Pathology, Neuroscience Research Australia

ORCID: 0000-0002-2128-0828

Observed ORCID: 0000-0002-2128-0828

OpenAlex ID: A5020906506

Nationwide, Couple-Based Genetic Carrier Screening

2024 · Edwin P. Kirk, Martin B. Delatycki, et al. · New England Journal of Medicine · 75

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation

2022 · Alison D. Archibald, Belinda J. McClaren, et al. · Journal of Personalized Medicine · 61

Direct notification by health professionals of relatives at-risk of genetic conditions (with patient consent): views of the Australian public

2023 · Jane M. Tiller, Ami Stott, et al. · European Journal of Human Genetics · 28

Genomic Testing in Patients with Kidney Failure of an Unknown Cause

2024 · Amali C. Mallawaarachchi, Lindsay Fowles, et al. · Clinical Journal of the American Society of Nephrology · 24

Titin-related familial dilated cardiomyopathy: factors associated with disease onset

2025 · Renee Johnson, Robert A Fletcher, et al. · European Heart Journal · 20

Evaluation of CTRL: a web application for dynamic consent and engagement with individuals involved in a cardiovascular genetic disorders cohort

2023 · Matilda A. Haas, Evanthia O. Madelli, et al. · European Journal of Human Genetics · 13

The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses

2024 · Rocio Rius, Alison G. Compton, et al. · Genetics in Medicine · 11

A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship

2024 · Rachel Austin, Jaye S. Brown, et al. · Genetics in Medicine Open · 9

Patients’ perspectives regarding health professionals contacting their relatives about genetic risk directly (with patient consent)

2024 · Jane Tiller, Keri Finlay, et al. · European Journal of Human Genetics · 8

Health professionals contacting patients’ relatives directly about genetic risk (with patient consent): current clinical practice and perspectives

2024 · Ami Stott, Evanthia O. Madelli, et al. · European Journal of Human Genetics · 5

Establishing The Australian Undiagnosed Disease Network (UDN-Aus); Australia’s first national rare disease diagnostic network

2026 · Ellenore M Martin, Madeleine Harris, et al. · Research Square · 1

Individuals’ preferences for future biological sample and genomic data sharing in the Australian Reproductive Genetic Carrier Screening Project

2026 · Matilda A. Haas, Evanthia O. Madelli, et al. · European Journal of Human Genetics · 1

Nationwide, Couple-Based Genetic Carrier Screening

2025 · E. P. Kirk, M. B. Delatycki, et al. · Obstetrical & Gynecological Survey

Works count: 13

Citation count: 256

H-index: 8

I10-index: 7