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Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.
Am J Hum Genet. 2015 Dec 3;97(6):790-800. doi: 10.1016/j.ajhg.2015.10.014.
Am J Hum Genet. 2015.
PMID: 26637975
Free PMC article.
Newborn screening and the era of medical genomics.
Francescatto L, Katsanis N.
Francescatto L, et al.
Semin Perinatol. 2015 Dec;39(8):617-22. doi: 10.1053/j.semperi.2015.09.010. Epub 2015 Oct 21.
Semin Perinatol. 2015.
PMID: 26499764
Free PMC article.
Review.
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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.
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.
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Rapid and Efficient Generation of Transgene-Free iPSC from a Small Volume of Cryopreserved Blood.
Zhou H, Martinez H, Sun B, Li A, Zimmer M, Katsanis N, Davis EE, Kurtzberg J, Lipnick S, Noggle S, Rao M, Chang S.
Zhou H, et al.
Stem Cell Rev Rep. 2015 Aug;11(4):652-65. doi: 10.1007/s12015-015-9586-8.
Stem Cell Rev Rep. 2015.
PMID: 25951995
Free PMC article.
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Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction.
Bonora E, Bianco F, Cordeddu L, Bamshad M, Francescatto L, Dowless D, Stanghellini V, Cogliandro RF, Lindberg G, Mungan Z, Cefle K, Ozcelik T, Palanduz S, Ozturk S, Gedikbasi A, Gori A, Pippucci T, Graziano C, Volta U, Caio G, Barbara G, D'Amato M, Seri M, Katsanis N, Romeo G, De Giorgio R.
Bonora E, et al.
Gastroenterology. 2015 Apr;148(4):771-782.e11. doi: 10.1053/j.gastro.2014.12.034. Epub 2015 Jan 6.
Gastroenterology. 2015.
PMID: 25575569
Free PMC article.
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