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Functional consequences of a novel variant of PCSK1.
Pickett LA, Yourshaw M, Albornoz V, Chen Z, Solorzano-Vargas RS, Nelson SF, Martín MG, Lindberg I. Pickett LA, et al. Among authors: yourshaw m. PLoS One. 2013;8(1):e55065. doi: 10.1371/journal.pone.0055065. Epub 2013 Jan 28. PLoS One. 2013. PMID: 23383060 Free PMC article.
A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.
Wilschanski M, Abbasi M, Blanco E, Lindberg I, Yourshaw M, Zangen D, Berger I, Shteyer E, Pappo O, Bar-Oz B, Martín MG, Elpeleg O. Wilschanski M, et al. Among authors: yourshaw m. PLoS One. 2014 Oct 1;9(10):e108878. doi: 10.1371/journal.pone.0108878. eCollection 2014. PLoS One. 2014. PMID: 25272002 Free PMC article.
Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort.
Martín MG, Lindberg I, Solorzano-Vargas RS, Wang J, Avitzur Y, Bandsma R, Sokollik C, Lawrence S, Pickett LA, Chen Z, Egritas O, Dalgic B, Albornoz V, de Ridder L, Hulst J, Gok F, Aydoğan A, Al-Hussaini A, Gok DE, Yourshaw M, Wu SV, Cortina G, Stanford S, Georgia S. Martín MG, et al. Among authors: yourshaw m. Gastroenterology. 2013 Jul;145(1):138-148. doi: 10.1053/j.gastro.2013.03.048. Epub 2013 Apr 2. Gastroenterology. 2013. PMID: 23562752 Free PMC article.
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC. Wan J, et al. Among authors: yourshaw m. Brain. 2016 Nov 1;139(11):2877-2890. doi: 10.1093/brain/aww212. Brain. 2016. PMID: 27543974 Free PMC article.
Loss of ADAM17 is associated with severe multiorgan dysfunction.
Bandsma RH, van Goor H, Yourshaw M, Horlings RK, Jonkman MF, Schölvinck EH, Karrenbeld A, Scheenstra R, Kömhoff M, Rump P, Koopman-Keemink Y, Nelson SF, Escher JC, Cutz E, Martín MG. Bandsma RH, et al. Among authors: yourshaw m. Hum Pathol. 2015 Jun;46(6):923-8. doi: 10.1016/j.humpath.2015.02.010. Epub 2015 Mar 5. Hum Pathol. 2015. PMID: 25804906 Free PMC article.
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. Lee H, et al. Among authors: yourshaw m. JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604. JAMA. 2014. PMID: 25326637 Free PMC article.
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