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Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome.
Stepensky P, Chacón-Flores M, Kim KH, Abuzaitoun O, Bautista-Santos A, Simanovsky N, Siliqi D, Altamura D, Méndez-Godoy A, Gijsbers A, Naser Eddin A, Dor T, Charrow J, Sánchez-Puig N, Elpeleg O. Stepensky P, et al. Among authors: elpeleg o. J Med Genet. 2017 Aug;54(8):558-566. doi: 10.1136/jmedgenet-2016-104366. Epub 2017 Mar 22. J Med Genet. 2017. PMID: 28331068
A human case of GIMAP6 deficiency: a novel primary immune deficiency.
Shadur B, Asherie N, Kfir-Erenfeld S, Dubnikov T, NaserEddin A, Schejter YD, Elpeleg O, Mor-Shaked H, Stepensky P. Shadur B, et al. Among authors: elpeleg o. Eur J Hum Genet. 2021 Apr;29(4):657-662. doi: 10.1038/s41431-020-00773-x. Epub 2020 Dec 16. Eur J Hum Genet. 2021. PMID: 33328581 Free PMC article.
Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.
Ta-Shma A, El-lahham N, Edvardson S, Stepensky P, Nir A, Perles Z, Gavri S, Golender J, Yaakobi-Simhayoff N, Shaag A, Rein AJ, Elpeleg O. Ta-Shma A, et al. Among authors: elpeleg o. J Med Genet. 2014 Apr;51(4):268-70. doi: 10.1136/jmedgenet-2013-102100. Epub 2014 Jan 13. J Med Genet. 2014. PMID: 24421281
[EXOME ANALYSIS - A GAME CHANGER IN PEDIATRICS].
Ta-Shma A, Edvardson S, Elpeleg O, Stepensky P. Ta-Shma A, et al. Among authors: elpeleg o. Harefuah. 2018 Mar;157(3):188-191. Harefuah. 2018. PMID: 29582952 Review. Hebrew.
T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency.
Stepensky P, Keller B, Shamriz O, von Spee-Mayer C, Friedmann D, Shadur B, Unger S, Fuchs S, NaserEddin A, Rumman N, Amro S, Molho Pessach V, Abuzaitoun O, Somech R, Elpeleg O, Ehl S, Warnatz K. Stepensky P, et al. Among authors: elpeleg o. J Clin Immunol. 2018 May;38(4):527-536. doi: 10.1007/s10875-018-0514-y. Epub 2018 Jun 9. J Clin Immunol. 2018. PMID: 29948574
309 results