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Page 1
A Hereditary Form of Small Intestinal Carcinoid Associated With a Germline Mutation in Inositol Polyphosphate Multikinase.
Sei Y, Zhao X, Forbes J, Szymczak S, Li Q, Trivedi A, Voellinger M, Joy G, Feng J, Whatley M, Jones MS, Harper UL, Marx SJ, Venkatesan AM, Chandrasekharappa SC, Raffeld M, Quezado MM, Louie A, Chen CC, Lim RM, Agarwala R, Schäffer AA, Hughes MS, Bailey-Wilson JE, Wank SA. Sei Y, et al. Among authors: harper ul. Gastroenterology. 2015 Jul;149(1):67-78. doi: 10.1053/j.gastro.2015.04.008. Epub 2015 Apr 9. Gastroenterology. 2015. PMID: 25865046 Free PMC article.
Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility.
Ramanagoudr-Bhojappa R, Carrington B, Ramaswami M, Bishop K, Robbins GM, Jones M, Harper U, Frederickson SC, Kimble DC, Sood R, Chandrasekharappa SC. Ramanagoudr-Bhojappa R, et al. PLoS Genet. 2018 Dec 12;14(12):e1007821. doi: 10.1371/journal.pgen.1007821. eCollection 2018 Dec. PLoS Genet. 2018. PMID: 30540754 Free PMC article.
Pooling/bootstrap-based GWAS (pbGWAS) identifies new loci modifying the age of onset in PSEN1 p.Glu280Ala Alzheimer's disease.
Vélez JI, Chandrasekharappa SC, Henao E, Martinez AF, Harper U, Jones M, Solomon BD, Lopez L, Garcia G, Aguirre-Acevedo DC, Acosta-Baena N, Correa JC, Lopera-Gómez CM, Jaramillo-Elorza MC, Rivera D, Kosik KS, Schork NJ, Swanson JM, Lopera F, Arcos-Burgos M. Vélez JI, et al. Mol Psychiatry. 2013 May;18(5):568-75. doi: 10.1038/mp.2012.81. Epub 2012 Jun 19. Mol Psychiatry. 2013. PMID: 22710270 Free PMC article.
GWAS reveals new recessive loci associated with non-syndromic facial clefting.
Camargo M, Rivera D, Moreno L, Lidral AC, Harper U, Jones M, Solomon BD, Roessler E, Vélez JI, Martinez AF, Chandrasekharappa SC, Arcos-Burgos M. Camargo M, et al. Eur J Med Genet. 2012 Oct;55(10):510-4. doi: 10.1016/j.ejmg.2012.06.005. Epub 2012 Jun 27. Eur J Med Genet. 2012. PMID: 22750566 Free PMC article.
High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9.
Varshney GK, Pei W, LaFave MC, Idol J, Xu L, Gallardo V, Carrington B, Bishop K, Jones M, Li M, Harper U, Huang SC, Prakash A, Chen W, Sood R, Ledin J, Burgess SM. Varshney GK, et al. Genome Res. 2015 Jul;25(7):1030-42. doi: 10.1101/gr.186379.114. Epub 2015 Jun 5. Genome Res. 2015. PMID: 26048245 Free PMC article.
19 results