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Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gößwein S, Di Donato N, Bertini ES; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ. Tepe B, et al. Among authors: zarate ya. Am J Hum Genet. 2023 May 4;110(5):774-789. doi: 10.1016/j.ajhg.2023.03.012. Epub 2023 Apr 12. Am J Hum Genet. 2023. PMID: 37054711 Free PMC article.
A case of minimal change disease in a Fabry patient.
Zarate YA, Patterson L, Yin H, Hopkin RJ. Zarate YA, et al. Pediatr Nephrol. 2010 Mar;25(3):553-6. doi: 10.1007/s00467-009-1353-0. Epub 2009 Oct 30. Pediatr Nephrol. 2010. PMID: 19876652
Genetic causes of macroglossia: diagnostic approach.
Prada CE, Zarate YA, Hopkin RJ. Prada CE, et al. Among authors: zarate ya. Pediatrics. 2012 Feb;129(2):e431-7. doi: 10.1542/peds.2011-1732. Epub 2012 Jan 16. Pediatrics. 2012. PMID: 22250026
102 results