Works matching AU Mallawaarachchi, Amali

Results: 14

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <italic>TNNT3</italic> splice variant.

Published in:

Human Mutation, 2018, v. 39, n. 3, p. 383, doi. 10.1002/humu.23385

By:

Sandaradura, Sarah A.;
Bournazos, Adam;
Mallawaarachchi, Amali;
Cummings, Beryl B.;
Waddell, Leigh B.;
Jones, Kristi J.;
Troedson, Christopher;
Sudarsanam, Annapurna;
Nash, Benjamin M.;
Peters, Gregory B.;
Algar, Elizabeth M.;
MacArthur, Daniel G.;
North, Kathryn N.;
Brammah, Susan;
Charlton, Amanda;
Laing, Nigel G.;
Wilson, Meredith J.;
Davis, Mark R.;
Cooper, Sandra T.

Publication type:

Article

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

Published in:

Clinical Kidney Journal, 2017, v. 10, n. 2, p. 263, doi. 10.1093/ckj/sfw132

By:

Collett, James;
Mallawaarachchi, Amali;
Fischer, Eddy;
Komala, Muralikrishna Gangadharan;
Sud, Kamal;
Bose, Bhadran

Publication type:

Article

Participant Choice towards Receiving Potential Additional Findings in an Australian Nephrology Research Genomics Study.

Published in:

Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101804

By:

O'Shea, Rosie;
Wood, Alasdair;
Patel, Chirag;
McCarthy, Hugh J.;
Mallawaarachchi, Amali;
Quinlan, Catherine;
Simons, Cas;
Stark, Zornitza;
Mallett, Andrew J.

Publication type:

Article

Diabetic ketoacidosis in an adult with beta-ketothiolase deficiency (BKD) involving a novel ACAT1 variant : first report of established diabetes in BKD and a review of the literature.

Published in:

Clinical Diabetes & Endocrinology, 2024, v. 10, n. 1, p. 1, doi. 10.1186/s40842-024-00174-9

By:

Zhen, Xi May;
Twigg, Stephen M.;
Wu, Ted;
Tabet, Eddy;
McGill, Margaret J.;
Constantino, Maria;
Mallawaarachchi, Amali;
Luo, Connie;
Thillainadesan, Senthil;
Rahman, Yusof;
Wong, Jencia

Publication type:

Article

Renal genetics in Australia: Kidney medicine in the genomic age.

Published in:

Nephrology, 2019, v. 24, n. 3, p. 279, doi. 10.1111/nep.13494

By:

Jayasinghe, Kushani;
Quinlan, Catherine;
Stark, Zornitza;
Patel, Chirag;
Mallawaarachchi, Amali;
Wardrop, Louise;
Kerr, Peter G;
Trnka, Peter;
Mallett, Andrew J

Publication type:

Article

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.

Published in:

Genome Biology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13059-023-02936-7

By:

Sullivan, Patricia J.;
Gayevskiy, Velimir;
Davis, Ryan L.;
Wong, Marie;
Mayoh, Chelsea;
Mallawaarachchi, Amali;
Hort, Yvonne;
McCabe, Mark J.;
Beecroft, Sarah;
Jackson, Matilda R.;
Arts, Peer;
Dubowsky, Andrew;
Laing, Nigel;
Dinger, Marcel E.;
Scott, Hamish S.;
Oates, Emily;
Pinese, Mark;
Cowley, Mark J.

Publication type:

Article

Oligohydramnios or Anhydramnios and Ultrasonically Normal Renal Echotexture Secondary to Autosomal Recessive Renal Tubular Dysgenesis: An Important Consideration in the Prenatal Setting.

Published in:

Fetal Diagnosis & Therapy, 2023, v. 50, n. 1, p. 17, doi. 10.1159/000529081

By:

Banuelos, Remi;
Mallawaarachchi, Amali;
Doyle, Helen;
Mogra, Ritu

Publication type:

Article

Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.

Published in:

Cerebellum, 2019, v. 18, n. 4, p. 781, doi. 10.1007/s12311-019-01038-0

By:

Kim, Aryun;
Kumar, Kishore R.;
Davis, Ryan L.;
Mallawaarachchi, Amali C.;
Gayevskiy, Velimir;
Minoche, Andre E.;
Walls, Zachary;
Kim, Han-Joon;
Jang, Mihee;
Cowley, Mark J.;
Choi, Ji-Hyun;
Shin, Chaewon;
Sue, Carolyn M.;
Jeon, Beomseok

Publication type:

Article

Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023.

Published in:

Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00656-y

By:

Mallawaarachchi, Amali;
Biros, Erik;
Harris, Trudie;
Bennetts, Bruce;
Boughtwood, Tiffany;
Elliott, Justine;
Fowles, Lindsay;
Gardos, Robert;
Garza, Denisse;
Goranitis, Ilias;
Haas, Matilda;
Huntley, Vanessa;
Jefferis, Julia;
Kassahn, Karin;
Leaver, Anna;
Lundie, Ben;
Lunke, Sebastian;
O'Connor, Caitlin;
Pratt, Greg;
Quinlan, Catherine

Publication type:

Article

Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00184-x

By:

Tanudisastro, Hope A.;
Holman, Katherine;
Ho, Gladys;
Farnsworth, Elizabeth;
Fisk, Katrina;
Gayagay, Thet;
Hackett, Emma;
Jenkins, Gemma;
Krishnaraj, Rahul;
Lai, Tiffany;
Wong, Karen;
Patel, Chirag;
Mallawaarachchi, Amali;
Mallett, Andrew J.;
Bennetts, Bruce;
Alexander, Stephen I.;
McCarthy, Hugh J.

Publication type:

Article

Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol.

Published in:

BMC Nephrology, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12882-024-03926-y

By:

Mallawaarachchi, Amali;
McCarthy, Hugh;
Forbes, Thomas A.;
Jayasinghe, Kushani;
Patel, Chirag;
Alexander, Stephen I.;
Boughtwood, Tiffany;
Braithwaite, Jeffrey;
Chakera, Aron;
Crafter, Sam;
Deveson, Ira W.;
Faull, Randall;
Harris, Trudie;
Johnstone, Lilian;
Jose, Matthew;
Leaver, Anna;
Little, Melissa H.;
MacArthur, Daniel;
Mattiske, Tessa;
Mincham, Christine

Publication type:

Article

Beyond DNA sequencing: genetic kidney disorders related to altered splicing.

Published in:

Nephrology Dialysis Transplantation, 2024, v. 39, n. 7, p. 1056, doi. 10.1093/ndt/gfae022

By:

McCarthy, Hugh J;
Mallett, Andrew J;
Sullivan, Patricia;
Cowley, Mark J;
Mallawaarachchi, Amali C

Publication type:

Article

Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts.

Published in:

NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00452-6

By:

Mallawaarachchi, Amali C.;
Hort, Yvonne;
Wedd, Laura;
Lo, Kitty;
Senum, Sarah;
Toumari, Mojgan;
Chen, Wenhan;
Utsiwegota, Mike;
Mawson, Jane;
Leslie, Scott;
Laurence, Jerome;
Anderson, Lyndal;
Snelling, Paul;
Salomon, Robert;
Rangan, Gopala K.;
Furlong, Timothy;
Shine, John;
Cowley, Mark J.

Publication type:

Article

Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD.

Published in:

NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00362-z

By:

Hort, Yvonne;
Sullivan, Patricia;
Wedd, Laura;
Fowles, Lindsay;
Stevanovski, Igor;
Deveson, Ira;
Simons, Cas;
Mallett, Andrew;
Patel, Chirag;
Furlong, Timothy;
Cowley, Mark J.;
Shine, John;
Mallawaarachchi, Amali

Publication type:

Article