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Testicular differentiation factor SF-1 is required for human spleen development.
Zangen D, Kaufman Y, Banne E, Weinberg-Shukron A, Abulibdeh A, Garfinkel BP, Dweik D, Kanaan M, Camats N, Flück C, Renbaum P, Levy-Lahad E. Zangen D, et al. Among authors: renbaum p. J Clin Invest. 2014 May;124(5):2071-5. doi: 10.1172/JCI73186. Epub 2014 Apr 8. J Clin Invest. 2014. PMID: 24905461 Free PMC article.
XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.
Zangen D, Kaufman Y, Zeligson S, Perlberg S, Fridman H, Kanaan M, Abdulhadi-Atwan M, Abu Libdeh A, Gussow A, Kisslov I, Carmel L, Renbaum P, Levy-Lahad E. Zangen D, et al. Among authors: renbaum p. Am J Hum Genet. 2011 Oct 7;89(4):572-9. doi: 10.1016/j.ajhg.2011.09.006. Epub 2011 Sep 29. Am J Hum Genet. 2011. PMID: 21963259 Free PMC article.
Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.
Weinberg-Shukron A, Abu-Libdeh A, Zhadeh F, Carmel L, Kogot-Levin A, Kamal L, Kanaan M, Zeligson S, Renbaum P, Levy-Lahad E, Zangen D. Weinberg-Shukron A, et al. Among authors: renbaum p. J Med Genet. 2015 Sep;52(9):636-41. doi: 10.1136/jmedgenet-2015-103078. Epub 2015 Jun 12. J Med Genet. 2015. PMID: 26070314
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.
Weinberg-Shukron A, Renbaum P, Kalifa R, Zeligson S, Ben-Neriah Z, Dreifuss A, Abu-Rayyan A, Maatuk N, Fardian N, Rekler D, Kanaan M, Samson AO, Levy-Lahad E, Gerlitz O, Zangen D. Weinberg-Shukron A, et al. Among authors: renbaum p. J Clin Invest. 2015 Nov 2;125(11):4295-304. doi: 10.1172/JCI83553. Epub 2015 Oct 20. J Clin Invest. 2015. PMID: 26485283 Free PMC article.
Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.
Aran A, Segel R, Kaneshige K, Gulsuner S, Renbaum P, Oliphant S, Meirson T, Weinberg-Shukron A, Hershkovitz Y, Zeligson S, Lee MK, Samson AO, Parsons SM, King MC, Levy-Lahad E, Walsh T. Aran A, et al. Among authors: renbaum p. Neurology. 2017 Mar 14;88(11):1021-1028. doi: 10.1212/WNL.0000000000003720. Epub 2017 Feb 10. Neurology. 2017. PMID: 28188302 Free PMC article.
Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.
Lolas Hamameh S, Renbaum P, Kamal L, Dweik D, Salahat M, Jaraysa T, Abu Rayyan A, Casadei S, Mandell JB, Gulsuner S, Lee MK, Walsh T, King MC, Levy-Lahad E, Kanaan M. Lolas Hamameh S, et al. Among authors: renbaum p. Int J Cancer. 2017 Aug 15;141(4):750-756. doi: 10.1002/ijc.30771. Epub 2017 May 19. Int J Cancer. 2017. PMID: 28486781 Free PMC article.
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