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Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Among authors: girisha km. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India.
Lashkari HP, Madkaikar M, Dalvi A, Gupta M, Bustamante J, Sharma M, Rawat A, Bhatia P, Bhat KG, Rao S, Kamath N, Moideen F, Latour S, Winter S, Bhavani GS, Girisha KM. Lashkari HP, et al. Among authors: girisha km. Indian J Pediatr. 2022 Mar;89(3):233-242. doi: 10.1007/s12098-021-03936-w. Epub 2021 Nov 26. Indian J Pediatr. 2022. PMID: 34826056 Free PMC article.
A novel sequence variant in SFRP4 causing Pyle disease.
Galada C, Shah H, Shukla A, Girisha KM. Galada C, et al. Among authors: girisha km. J Hum Genet. 2017 Apr;62(5):575-576. doi: 10.1038/jhg.2016.166. Epub 2017 Jan 19. J Hum Genet. 2017. PMID: 28100910
286 results