Concepedia

Amali Mallawaarachchi

AM

21

Publications

904

Citations

16

H-Index

2016

Active since

Affiliations

Garvan Institute of Medical Research(Current)

The University of Sydney

Murdoch Children's Research Institute

UNSW Sydney

Royal Brisbane and Women's Hospital

Amali Mallawaarachchi is an author at Garvan Institute of Medical Research specializing in medicine, pathology, and genetics.

ORCID

Top concepts

Publications per year

2016–2024

21

Publications

21

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 99 citations

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Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders

Andrew J. Mallett, Hugh J. McCarthy, Gladys Ho et al. · Kidney International · 2017 · 96 citations

, , +10

Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease

Amali Mallawaarachchi, Yvonne Hort, Mark J. Cowley et al. · European Journal of Human Genetics · 2016 · 84 citations · Full text

, , +9

Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics

Kushani Jayasinghe, Catherine Quinlan, Andrew J. Mallett et al. · Kidney International Reports · 2020 · 67 citations · Full text

Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease

Vinh Toan Huynh, Marie‐Pierre Audrézet, John A. Sayer et al. · Kidney International · 2020 · 65 citations · Full text

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