Author

AFRICAN RESEARCH NEXUS

SHINING A SPOTLIGHT ON AFRICAN RESEARCH

Kirk, Edwin P.

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Top Publications

Top Publications Authored or Co-Authored by "Kirk, Edwin P."

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
American Journal of Medical Genetics, Part A, Volume 167, No. 2, Year 2015, Citations 449
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia
Journal of Inherited Metabolic Disease, Volume 35, No. 6, Year 2012, Citations 81
The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
Orphanet Journal of Rare Diseases, Volume 8, No. 1, Article 63, Year 2013, Citations 68
Cardiac disease in methylmalonic acidemia
Journal of Pediatrics, Volume 159, No. 5, Year 2011, Citations 39

Institutional Spectrum

Most Recent Affiliations

Institution	Country	Start Year	End Year	Affiliated Years
Sydney Children's Hospital, Randwick	Australia	1999	2023	25
Victor Chang Cardiac Research Institute	Australia	2002	2023	22
UNSW Sydney	Australia	2003	2023	21
UNSW Medicine	Australia	2006	2023	18
NSW Health Pathology	Australia	2019	2023	5
Sydney Children’s Hospitals Network	Australia	2023	2023	1
Prince of Wales Hospital	Australia	2018	2022	5

Disclaimer

All information and calculations provided are based on our current indexed publications and may change as more data is collected.

African Research Nexus

The African Research Nexus is a visionary initiative that seeks to increase the visibility of African Researchers and Institutions. We are a dynamic hub designed to transform the African research landscape and amplify the voices of our continent’s brightest minds.

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