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RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
Bögershausen N, Tsai IC, Pohl E, Kiper PÖ, Beleggia F, Percin EF, Keupp K, Matchan A, Milz E, Alanay Y, Kayserili H, Liu Y, Banka S, Kranz A, Zenker M, Wieczorek D, Elcioglu N, Prontera P, Lyonnet S, Meitinger T, Stewart AF, Donnai D, Strom TM, Boduroglu K, Yigit G, Li Y, Katsanis N, Wollnik B. Bögershausen N, et al. Among authors: percin ef. J Clin Invest. 2015 Sep;125(9):3585-99. doi: 10.1172/JCI80102. Epub 2015 Aug 17. J Clin Invest. 2015. PMID: 26280580 Free PMC article.
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.
Boppudi S, Bögershausen N, Hove HB, Percin EF, Aslan D, Dvorsky R, Kayhan G, Li Y, Cursiefen C, Tantcheva-Poor I, Toft PB, Bartsch O, Lissewski C, Wieland I, Jakubiczka S, Wollnik B, Ahmadian MR, Heindl LM, Zenker M. Boppudi S, et al. Among authors: percin ef. Clin Genet. 2016 Oct;90(4):334-42. doi: 10.1111/cge.12775. Epub 2016 Apr 29. Clin Genet. 2016. PMID: 26970110
HACE1 deficiency leads to structural and functional neurodevelopmental defects.
Nagy V, Hollstein R, Pai TP, Herde MK, Buphamalai P, Moeseneder P, Lenartowicz E, Kavirayani A, Korenke GC, Kozieradzki I, Nitsch R, Cicvaric A, Monje Quiroga FJ, Deardorff MA, Bedoukian EC, Li Y, Yigit G, Menche J, Perçin EF, Wollnik B, Henneberger C, Kaiser FJ, Penninger JM. Nagy V, et al. Among authors: percin ef. Neurol Genet. 2019 Apr 29;5(3):e330. doi: 10.1212/NXG.0000000000000330. eCollection 2019 Jun. Neurol Genet. 2019. PMID: 31321300 Free PMC article.
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS. Reynolds JJ, et al. Among authors: percin ef. Nat Genet. 2017 Apr;49(4):537-549. doi: 10.1038/ng.3790. Epub 2017 Feb 13. Nat Genet. 2017. PMID: 28191891 Free PMC article.
Floating-Harbor syndrome: a first female Turkish patient?
Karaer K, Karaoguz MY, Ergun MA, Yesilkaya E, Bideci A, Percin EF. Karaer K, et al. Among authors: percin ef. Genet Couns. 2006;17(4):465-8. Genet Couns. 2006. PMID: 17375535 No abstract available.
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