Amali Mallawaarachchi

Author

Garvan Institute of Medical Research ORCID

Also Known As

A.C. Lungu, Amali C Mallawaarachchi, Amali C. Mallawaarachchi, Amali Mallawaarachchi, Evanthia O Madelli, Kishore R. Kumar, Mallawaarachchi, A., Mallawaarachchi, Amali

Publications

1.1K

Citations

H-Index

Concepts

All Affiliations

Garvan Institute of Medical Research The University of Sydney Murdoch Children's Research Institute UNSW Sydney Royal Brisbane and Women's Hospital

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	10	573
2	Public Health	2	2	28
3	Health Sciences	1	1	11
4	Biostatistics	1	1	15
5	Molecular Genetics	1	1	13

Amali Mallawaarachchi

Publications

904

Citations

H-Index

Page 1

	Year	Citations
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli, Genetics in Medicine MedicineGeneticsRna SplicingPutative Splicing VariantsPathology	2021	99
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders Andrew J. Mallett, Hugh J. McCarthy, Gladys Ho, Kidney International BioinformaticsUnderlying Genetic DisordersParallel SequencingMedicineGenetics	2017	96
Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease Amali Mallawaarachchi, Yvonne Hort, Mark J. Cowley, European Journal of Human Genetics UrologyMendelian DisorderKidney ResearchMedicineGenetics	2016	84
Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics Kushani Jayasinghe, Catherine Quinlan, Andrew J. Mallett, Kidney International Reports	2020	67
Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease Vinh Toan Huynh, Marie‐Pierre Audrézet, John A. Sayer, Kidney International MedicineKidney FailureChronic Kidney DiseaseDnajb11-kidney DiseasePathology	2020	65
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <i>TNNT3</i> splice variant Sarah A. Sandaradura, Adam Bournazos, Amali Mallawaarachchi, Human Mutation	2017	63
Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis Ryan L. Davis, Kishore R. Kumar, Clare Puttick, Neurology	2022	63
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death Alicia B. Byrne, Peer Arts, Thuong Ha, Nature Medicine	2023	54
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing Amali Mallawaarachchi, Ben Lundie, Yvonne Hort, European Journal of Human Genetics BioinformaticsWhole-genome SequencingUrologyMedicineGenetics	2021	53
Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing Aryun Kim, Kishore R. Kumar, Ryan L. Davis, The Cerebellum Whole-genome SequencingNeurological DisorderMedicineSpastic ParaplegiaClinical Neurology	2019	38

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