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Amali C. Mallawaarachchi

Observed names: A. Mallawaarachchi, Amali C Mallawaarachchi, Amali Mallawaarachchi, Amali Mallawaarachi, Mallawaarachchi Amali, Mallawaarachchi, A, Mallawaarachchi, Amali, Mallawaarachchi, Amali C.
Observed institutions: The University of Sydney, Concord Hospital, Children's Hospital of Philadelphia, Garvan Institute of Medical Research, The University of Melbourne, University of the Sunshine Coast, Royal Prince Alfred Hospital, Royal North Shore Hospital, Concord Repatriation General Hospital, Liverpool Hospital, Children's Hospital at Westmead, Westmead Hospital, UNSW Sydney, Children's Cancer Institute Australia, Northern Sydney Local Health District, Sydney Local Health District, Murdoch Children's Research Institute, South Western Sydney Local Health District, Australian Genomics Health Alliance, Macquarie University
ORCID: 0000-0002-1229-1701
Observed ORCID: 0000-0002-1229-1701
OpenAlex ID: A5000657352
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders
2017 · Andrew J. Mallett, Hugh J. McCarthy, et al. · Kidney International · 98
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
2021 · Adam M. Bournazos, Lisa G. Riley, et al. · Genetics in Medicine · 97
Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease
2016 · Amali C Mallawaarachchi, Yvonne Hort, et al. · European Journal of Human Genetics · 92
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Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease
2020 · Vinh T. Huynh, Marie-Pierre Audrézet, et al. · Kidney International · 71
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Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis
2022 · Ryan L. Davis, Kishore R. Kumar, et al. · Neurology · 67
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing
2021 · Amali C. Mallawaarachchi, Ben Lundie, et al. · European Journal of Human Genetics · 67
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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
2023 · Alicia B. Byrne, Peer Arts, et al. · Nature Medicine · 66
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Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics
2020 · Kushani Jayasinghe, Catherine Quinlan, et al. · Kidney International Reports · 66
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Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant
2017 · Sarah A. Sandaradura, Adam Bournazos, et al. · Human Mutation · 65
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Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing
2019 · Aryun Kim, Kishore R. Kumar, et al. · The Cerebellum · 38
Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation
2023 · You Wu, Kushani Jayasinghe, et al. · Genetics in Medicine · 32
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A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder
2020 · Lynelle K. Jones, Rachel Lam, et al. · Development · 31
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity
2019 · Hanyin Cheng, Simona Capponi, et al. · Human Mutation · 31
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Renal genetics in Australia: Kidney medicine in the genomic age
2018 · Kushani Jayasinghe, Catherine Quinlan, et al. · Nephrology · 27
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ADPedKD: A Global Online Platform on the Management of Children With ADPKD
2019 · Stéphanie De Rechter, Detlef Bockenhauer, et al. · Kidney International Reports · 26
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Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years
2024 · Kushani Jayasinghe, Erik Biros, et al. · Kidney International Reports · 25
Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families
2021 · Hope A. Tanudisastro, Katherine Holman, et al. · npj Genomic Medicine · 25
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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
Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD
2023 · Yvonne Hort, Patricia Sullivan, et al. · npj Genomic Medicine · 24
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Titin-related familial dilated cardiomyopathy: factors associated with disease onset
2025 · Renee Johnson, Robert A Fletcher, et al. · European Heart Journal · 19
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Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol
2019 · Kushani Jayasinghe, Zornitza Stark, et al. · BMJ Open · 19
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Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications
2023 · Patricia J. Sullivan, Velimir Gayevskiy, et al. · Genome biology · 18
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Population data improves variant interpretation in autosomal dominant polycystic kidney disease
2018 · Amali C. Mallawaarachchi, Timothy J. Furlong, et al. · Genetics in Medicine · 14
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Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms
2018 · Kishore R. Kumar, Gautam Wali, et al. · Molecular Genetics and Metabolism Reports · 14
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Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency
2019 · Hugo Morales-Briceño, Florence C.F. Chang, et al. · Neurology · 12
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Works count: 83
Citation count: 1,256
H-index: 20
I10-index: 27
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