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Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.
Mallawaarachchi AC, Lundie B, Hort Y, Schonrock N, Senum SR, Gayevskiy V, Minoche AE, Hollway G, Ohnesorg T, Hinchcliffe M, Patel C, Tchan M, Mallett A, Dinger ME, Rangan G, Cowley MJ, Harris PC, Burnett L, Shine J, Furlong TJ. Mallawaarachchi AC, et al. Among authors: tchan m. Eur J Hum Genet. 2021 May;29(5):760-770. doi: 10.1038/s41431-020-00796-4. Epub 2021 Jan 12. Eur J Hum Genet. 2021. PMID: 33437033 Free PMC article.
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
Wasserstein MP, Lachmann R, Hollak C, Barbato A, Gallagher RC, Giugliani R, Guelbert NB, Hennermann JB, Ikezoe T, Lidove O, Mabe P, Mengel E, Scarpa M, Senates E, Tchan M, Villarrubia J, Thurberg BL, Yarramaneni A, Armstrong NM, Kim Y, Kumar M. Wasserstein MP, et al. Among authors: tchan m. Orphanet J Rare Dis. 2023 Dec 2;18(1):378. doi: 10.1186/s13023-023-02983-0. Orphanet J Rare Dis. 2023. PMID: 38042851 Free PMC article.
A protocol for the identification and validation of novel genetic causes of kidney disease.
Mallett A, Patel C, Maier B, McGaughran J, Gabbett M, Takasato M, Cameron A, Trnka P, Alexander SI, Rangan G, Tchan MC, Caruana G, John G, Quinlan C, McCarthy HJ, Hyland V, Hoy WE, Wolvetang E, Taft R, Simons C, Healy H, Little M. Mallett A, et al. Among authors: tchan mc. BMC Nephrol. 2015 Sep 15;16:152. doi: 10.1186/s12882-015-0148-8. BMC Nephrol. 2015. PMID: 26374634 Free PMC article.
KHA-CARI guideline recommendations for the diagnosis and management of autosomal dominant polycystic kidney disease.
Rangan GK, Alexander SI, Campbell KL, Dexter MA, Lee VW, Lopez-Vargas P, Mai J, Mallett A, Patel C, Patel M, Tchan MC, Tong A, Tunnicliffe DJ, Vladica P, Savige J. Rangan GK, et al. Among authors: tchan mc. Nephrology (Carlton). 2016 Aug;21(8):705-16. doi: 10.1111/nep.12658. Nephrology (Carlton). 2016. PMID: 26511892 Review. No abstract available.
Autosomal Dominant Polycystic Kidney Disease: A Path Forward.
Rangan GK, Lopez-Vargas P, Nankivell BJ, Tchan M, Tong A, Tunnicliffe DJ, Savige J. Rangan GK, et al. Among authors: tchan m. Semin Nephrol. 2015 Nov;35(6):524-37. doi: 10.1016/j.semnephrol.2015.10.002. Semin Nephrol. 2015. PMID: 26718155 Review.
Adenine Phosphoribosyltransferase Deficiency: A Potentially Reversible Cause of CKD.
Li J, Shingde M, Nankivell BJ, Tchan MC, Bose B, Chapman JR, Kable K, Kim SK, Vucak-Dzumhur M, Wong G, Rangan GK. Li J, et al. Among authors: tchan mc. Kidney Int Rep. 2019 May 7;4(8):1161-1170. doi: 10.1016/j.ekir.2019.04.021. eCollection 2019 Aug. Kidney Int Rep. 2019. PMID: 31440706 Free PMC article. No abstract available.
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