Amali Mallawaarachchi

Amali Mallawaarachchi

Garvan Institute of Medical Research - Darlinghurst / Australia
Medical and Health Sciences / Nephrology
AD Scientific Index ID: 4528139
person_outline Amali Mallawaarachchi's MOST POPULAR ARTICLES
1-) Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disordersAJ Mallett, HJ McCarthy, G Ho, K Holman, E Farnsworth, C Patel, ...Kidney international 92 (6), 1493-1506, 2017752017
2-) Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney diseaseAC Mallawaarachchi, Y Hort, MJ Cowley, MJ McCabe, A Minoche, ...European Journal of Human Genetics 24 (11), 1584-1590, 2016752016
3-) Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAM Bournazos, LG Riley, S Bommireddipalli, L Ades, LS Akesson, ...Genetics in medicine 24 (1), 130-145, 2022532022
4-) Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variantSA Sandaradura, A Bournazos, A Mallawaarachchi, BB Cummings, ...Human mutation 39 (3), 383-388, 2018562018
5-) Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney diseaseVT Huynh, MP Audrézet, JA Sayer, AC Ong, S Lefevre, V Le Brun, ...Kidney international 98 (2), 476-487, 2020542020