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Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals.
Lacaze P, Sebra R, Riaz M, Tiller J, Revote J, Phung J, Parker EJ, Orchard SG, Lockery JE, Wolfe R, Strahl M, Wang YC, Chen R, Sisco D, Arnold T, Thompson BA, Buchanan DD, Macrae FA, James PA, Abhayaratna WP, Lockett TJ, Gibbs P, Tonkin AM, Nelson MR, Reid CM, Woods RL, Murray AM, Winship I, McNeil JJ, Schadt E. Lacaze P, et al. Among authors: riaz m. Genet Med. 2020 Nov;22(11):1883-1886. doi: 10.1038/s41436-020-0881-7. Epub 2020 Jul 1. Genet Med. 2020. PMID: 32606442 Free PMC article.
Implementation of public health genomics in Pakistan.
Riaz M, Tiller J, Ajmal M, Azam M, Qamar R, Lacaze P. Riaz M, et al. Eur J Hum Genet. 2019 Oct;27(10):1485-1492. doi: 10.1038/s41431-019-0428-z. Epub 2019 May 17. Eur J Hum Genet. 2019. PMID: 31101884 Free PMC article. Review.
Response to Veenstra et al.
Lacaze P, Tiller J, Bao Y, Riaz M, Winship I, Zhang L. Lacaze P, et al. Among authors: riaz m. Genet Med. 2019 Dec;21(12):2842-2843. doi: 10.1038/s41436-019-0581-3. Epub 2019 Jul 15. Genet Med. 2019. PMID: 31303646 Free article. No abstract available.
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.
Pinese M, Lacaze P, Rath EM, Stone A, Brion MJ, Ameur A, Nagpal S, Puttick C, Husson S, Degrave D, Cristina TN, Kahl VFS, Statham AL, Woods RL, McNeil JJ, Riaz M, Barr M, Nelson MR, Reid CM, Murray AM, Shah RC, Wolfe R, Atkins JR, Fitzsimmons C, Cairns HM, Green MJ, Carr VJ, Cowley MJ, Pickett HA, James PA, Powell JE, Kaplan W, Gibson G, Gyllensten U, Cairns MJ, McNamara M, Dinger ME, Thomas DM. Pinese M, et al. Among authors: riaz m. Nat Commun. 2020 Jan 23;11(1):435. doi: 10.1038/s41467-019-14079-0. Nat Commun. 2020. PMID: 31974348 Free PMC article.
Recovery of natural killer cell cytotoxicity in a p.A91V perforin homozygous patient following severe haemophagocytic lymphohistiocytosis.
Jang HS, Flinsenberg TWH, Lacaze P, Thia KYT, Noori T, Fernando SL, Kerridge I, Riaz M, McNeil JJ, Blombery PA, Trapani JA, Voskoboinik I. Jang HS, et al. Among authors: riaz m. Br J Haematol. 2020 Aug;190(3):458-461. doi: 10.1111/bjh.16660. Epub 2020 Apr 27. Br J Haematol. 2020. PMID: 32342501 Free article. No abstract available.
1,094 results