photo of Dr Natasha Brown

Dr Natasha Brown

Dr Natasha Brown

Details

Role Clinical Geneticist
Group Clinical Genetics

Top Publications

  • O'Grady, L, Vergano, SAS, Hoffman, TL, Sarco, D, Cherny, S, Bryant, E, Schultz‐Rogers, L, Chung, WK, Sacharow, S, Immken, LL, et al. Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. American Journal of Medical Genetics Part A 2022
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  • van der Spek, J, den Hoed, J, Snijders Blok, L, Dingemans, AJM, Schijven, D, Nellaker, C, Venselaar, H, Astuti, GDN, Barakat, TS, Bebin, EM, et al. Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome. Genetics in Medicine 24(6) : 1283 -1296 2022
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  • Akesson, LS, Rius, R, Brown, NJ, Rosenbaum, J, Donoghue, S, Stormon, M, Chai, C, Bordador, E, Guo, Y, Hakonarson, H, et al. Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies. 63(3) : 240 -249 2022
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  • Lee, J, Kiss, S, Amor, DJ, Brown, NJ, Hardikar, W, Hong, KM, MacGregor, D, Marty, M, Marum, J, Pai, G, et al. Disorders in sterol metabolism: A case series. Pathology 54: s14 2022
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  • Broly, M, Polevoda, BV, Awayda, KM, Tong, N, Lentini, J, Besnard, T, Deb, W, O'Rourke, D, Baptista, J, Ellard, S, et al. THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder. American Journal of Human Genetics 109(4) : 587 -600 2022
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