Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.

Autor: Mallawaarachchi AC; Division of Genomics and Epigenetics, Garvan Institute of Medical Research, Sydney, NSW, Australia. a.mallawaarachchi@garvan.org.au.; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW, Australia. a.mallawaarachchi@garvan.org.au.; Genome.One, Sydney, NSW, Australia. a.mallawaarachchi@garvan.org.au., Lundie B; Genome.One, Sydney, NSW, Australia., Hort Y; Division of Genomics and Epigenetics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Schonrock N; Genome.One, Sydney, NSW, Australia.; Garvan Institute of Medical Research, Sydney, NSW, Australia.; St Vincent's Hospital Clinical School, University of New South Wales, Sydney, NSW, Australia., Senum SR; Division of Nephrology and Hypertension, The Mayo Clinic, Rochester, MN, USA., Gayevskiy V; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Minoche AE; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Hollway G; Genome.One, Sydney, NSW, Australia.; Garvan Institute of Medical Research, Sydney, NSW, Australia.; St Vincent's Hospital Clinical School, University of New South Wales, Sydney, NSW, Australia., Ohnesorg T; Genome.One, Sydney, NSW, Australia., Hinchcliffe M; Genome.One, Sydney, NSW, Australia., Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia., Tchan M; Department of Genetic Medicine, Westmead Hospital, Sydney, NSW, Australia.; Sydney Medical School, The University of Sydney, Sydney, NSW, Australia., Mallett A; Kidney Health Service, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.; Institute for Molecular Bioscience & Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia.; KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, VIC, Australia., Dinger ME; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW, Australia., Rangan G; Department of Renal Medicine, Westmead Hospital, Western Sydney Local Health District, Sydney, NSW, Australia.; Centre for Transplant and Renal Research, Westmead Institute for Medical Research, The University of Sydney, Sydney, NSW, Australia., Cowley MJ; Garvan Institute of Medical Research, Sydney, NSW, Australia.; St Vincent's Hospital Clinical School, University of New South Wales, Sydney, NSW, Australia.; Children's Cancer Institute, Sydney, NSW, Australia., Harris PC; Division of Nephrology and Hypertension, The Mayo Clinic, Rochester, MN, USA., Burnett L; Genome.One, Sydney, NSW, Australia.; St Vincent's Hospital Clinical School, University of New South Wales, Sydney, NSW, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Sydney Medical School, The University of Sydney, Sydney, NSW, Australia., Shine J; Division of Genomics and Epigenetics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Furlong TJ; Division of Genomics and Epigenetics, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Department of Renal Medicine, St Vincent's Hospital, Sydney, NSW, Australia.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 May; Vol. 29 (5), pp. 760-770. Date of Electronic Publication: 2021 Jan 12.

Semaglutide-associated kidney injury.

Autor: Begum, Farhana¹ (AUTHOR), Chang, Kelly² (AUTHOR), Kapoor, Krishna² (AUTHOR), Vij, Rajiv² (AUTHOR), Phadke, Gautam³ (AUTHOR), Hiser, Wesley M⁴ (AUTHOR), Wanchoo, Rimda^1,5 (AUTHOR), Sharma, Purva^1,5 (AUTHOR), Sutaria, Nirja⁶ (AUTHOR), Jhaveri, Kenar D^1,5 (AUTHOR) kjhaveri@northwell.edu

Publikováno v: Clinical Kidney Journal. Sep2024, Vol. 17 Issue 9, p1-6. 6p.

Population data improves variant interpretation in autosomal dominant polycystic kidney disease.

Autor: Mallawaarachchi AC; Division of Genomics and Epigenetics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Furlong TJ; Division of Genomics and Epigenetics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Shine J; Division of Genomics and Epigenetics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Harris PC; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA., Cowley MJ; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia. m.cowley@garvan.org.au.; St Vincent's Hospital Clinical School, University of New South Wales, Sydney, NSW, Australia. m.cowley@garvan.org.au.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Jun; Vol. 21 (6), pp. 1425-1434. Date of Electronic Publication: 2018 Oct 29.

Could metformin be used in patients with advanced chronic kidney disease?

Autor: Kumar SS; Department of Clinical Pharmacology and Toxicology, St Vincent's Hospital, Sydney, Australia.; Division of Clinical Pharmacology, Department of Pediatrics, University of Utah, Salt Lake City, Utah.; School of Medical Sciences, UNSW Medicine, University of New South Wales, Kensington, New South Wales, Australia., Graham GG; Department of Clinical Pharmacology and Toxicology, St Vincent's Hospital, Sydney, Australia.; School of Medical Sciences, UNSW Medicine, University of New South Wales, Kensington, New South Wales, Australia., Smith FC; Department of Clinical Pharmacology and Toxicology, St Vincent's Hospital, Sydney, Australia.; School of Medical Sciences, UNSW Medicine, University of New South Wales, Kensington, New South Wales, Australia., Furlong TJ; Department of Nephrology, St Vincent's Hospital, Sydney, Australia., Greenfield JR; Diabetes and Metabolism Research Division, Garvan Institute of Medical Research, Sydney, Australia.; St Vincent's Clinical School, UNSW Medicine, St Vincent's Hospital, Sydney, Australia., Stocker SS; Department of Clinical Pharmacology and Toxicology, St Vincent's Hospital, Sydney, Australia., Carland JE; Department of Clinical Pharmacology and Toxicology, St Vincent's Hospital, Sydney, Australia., Day RO; Department of Clinical Pharmacology and Toxicology, St Vincent's Hospital, Sydney, Australia.; School of Medical Sciences, UNSW Medicine, University of New South Wales, Kensington, New South Wales, Australia.; St Vincent's Clinical School, UNSW Medicine, St Vincent's Hospital, Sydney, Australia.

Publikováno v: Diabetes, obesity & metabolism [Diabetes Obes Metab] 2017 Feb; Vol. 19 (2), pp. 302-303. Date of Electronic Publication: 2016 Nov 09.

The correlation between the frequent intake of dietary migraine triggers and increased clinical features of migraine (analytical cross-sectional study from Egypt).

Autor: Fayed, Abdel-Ghaffar I.¹ (AUTHOR) drfayed1984@azhar.edu.eg, Emam, Hossam¹ (AUTHOR), Abdel-Fattah, Alyaa N.^2,3 (AUTHOR), Shamloul, Reham M.⁴ (AUTHOR), Elkholy, Thanaa A.³ (AUTHOR), Yassen, Ensaf M.³ (AUTHOR), Hamdy, Eman⁵ (AUTHOR), Mohamed, Mohie-eldin T.¹ (AUTHOR), Seddeek, Mahrous I.¹ (AUTHOR), Abed, Elsayed¹ (AUTHOR)

Publikováno v: Scientific Reports. 2/20/2024, Vol. 14 Issue 1, p1-13. 13p.