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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
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
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
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
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
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
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
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
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
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
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

Found: 12