Search filters

List of works by Amali Mallawaarachchi

Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol

scientific article published on 05 August 2019

Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms

scientific article published on 20 July 2018

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

scientific article

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity

scientific article published on 23 October 2019

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.

scientific article published on 19 December 2017

Novel complement factor H gene mutation causing atypical haemolytic uraemic syndrome: early Eculizumab prevents acute dialysis.

scientific article

Population data improves variant interpretation in autosomal dominant polycystic kidney disease

scientific article published on 29 October 2018

Renal Genetics in Australia: Kidney Medicine in the Genomic Age

article

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

scientific article

Paulina is supported by:

About Paulina

Help