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Congenital valvular defects associated with deleterious mutations in the PLD1 gene.
Ta-Shma A, Zhang K, Salimova E, Zernecke A, Sieiro-Mosti D, Stegner D, Furtado M, Shaag A, Perles Z, Nieswandt B, Rein AJ, Rosenthal N, Neiman AM, Elpeleg O. Ta-Shma A, et al. Among authors: elpeleg o. J Med Genet. 2017 Apr;54(4):278-286. doi: 10.1136/jmedgenet-2016-104259. Epub 2016 Oct 31. J Med Genet. 2017. PMID: 27799408
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
A human laterality disorder associated with a homozygous WDR16 deletion.
Ta-Shma A, Perles Z, Yaacov B, Werner M, Frumkin A, Rein AJ, Elpeleg O. Ta-Shma A, et al. Among authors: elpeleg o. Eur J Hum Genet. 2015 Sep;23(9):1262-5. doi: 10.1038/ejhg.2014.265. Epub 2014 Dec 3. Eur J Hum Genet. 2015. PMID: 25469542 Free PMC article.
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
Ta-Shma A, Hjeij R, Perles Z, Dougherty GW, Abu Zahira I, Letteboer SJF, Antony D, Darwish A, Mans DA, Spittler S, Edelbusch C, Cindrić S, Nöthe-Menchen T, Olbrich H, Stuhlmann F, Aprea I, Pennekamp P, Loges NT, Breuer O, Shaag A, Rein AJJT, Gulec EY, Gezdirici A, Abitbul R, Elias N, Amirav I, Schmidts M, Roepman R, Elpeleg O, Omran H. Ta-Shma A, et al. Among authors: elpeleg o. PLoS Genet. 2018 Aug 27;14(8):e1007602. doi: 10.1371/journal.pgen.1007602. eCollection 2018 Aug. PLoS Genet. 2018. PMID: 30148830 Free PMC article.
An SNX10 mutation causes malignant osteopetrosis of infancy.
Aker M, Rouvinski A, Hashavia S, Ta-Shma A, Shaag A, Zenvirt S, Israel S, Weintraub M, Taraboulos A, Bar-Shavit Z, Elpeleg O. Aker M, et al. Among authors: elpeleg o. J Med Genet. 2012 Apr;49(4):221-6. doi: 10.1136/jmedgenet-2011-100520. J Med Genet. 2012. PMID: 22499339
308 results