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132 results

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Page 1
Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections.
Dinwiddie DL, Kingsmore SF, Caracciolo S, Rossi G, Moratto D, Mazza C, Sabelli C, Bacchetta R, Passerini L, Magri C, Bell CJ, Miller NA, Hateley SL, Saunders CJ, Zhang L, Schroth GP, Barlati S, Badolato R. Dinwiddie DL, et al. Among authors: saunders cj. J Allergy Clin Immunol. 2013 Feb;131(2):594-7.e1-3. doi: 10.1016/j.jaci.2012.10.062. J Allergy Clin Immunol. 2013. PMID: 23374272 Free PMC article. No abstract available.
Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.
Badolato R, Prandini A, Caracciolo S, Colombo F, Tabellini G, Giacomelli M, Cantarini ME, Pession A, Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Saunders CJ, Zhang L, Schroth GP, Plebani A, Parolini S, Kingsmore SF. Badolato R, et al. Among authors: saunders cj. Blood. 2012 Mar 29;119(13):3185-7. doi: 10.1182/blood-2012-01-404350. Blood. 2012. PMID: 22461475 Free article. No abstract available.
Next-generation community genetics for low- and middle-income countries.
Kingsmore SF, Lantos JD, Dinwiddie DL, Miller NA, Soden SE, Farrow EG, Saunders CJ. Kingsmore SF, et al. Among authors: saunders cj. Genome Med. 2012 Mar 29;4(3):25. doi: 10.1186/gm324. eCollection 2012. Genome Med. 2012. PMID: 22458566 Free PMC article.
Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing.
Dinwiddie DL, Bracken JM, Bass JA, Christenson K, Soden SE, Saunders CJ, Miller NA, Singh V, Zwick DL, Roberts CC, Dalal J, Kingsmore SF. Dinwiddie DL, et al. Among authors: saunders cj. Genomics. 2013 Nov-Dec;102(5-6):442-7. doi: 10.1016/j.ygeno.2013.08.008. Epub 2013 Aug 31. Genomics. 2013. PMID: 24001973 Free PMC article.
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Soden SE, Saunders CJ, Willig LK, Farrow EG, Smith LD, Petrikin JE, LePichon JB, Miller NA, Thiffault I, Dinwiddie DL, Twist G, Noll A, Heese BA, Zellmer L, Atherton AM, Abdelmoity AT, Safina N, Nyp SS, Zuccarelli B, Larson IA, Modrcin A, Herd S, Creed M, Ye Z, Yuan X, Brodsky RA, Kingsmore SF. Soden SE, et al. Among authors: saunders cj. Sci Transl Med. 2014 Dec 3;6(265):265ra168. doi: 10.1126/scitranslmed.3010076. Sci Transl Med. 2014. PMID: 25473036 Free PMC article.
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.
Miller NA, Farrow EG, Gibson M, Willig LK, Twist G, Yoo B, Marrs T, Corder S, Krivohlavek L, Walter A, Petrikin JE, Saunders CJ, Thiffault I, Soden SE, Smith LD, Dinwiddie DL, Herd S, Cakici JA, Catreux S, Ruehle M, Kingsmore SF. Miller NA, et al. Among authors: saunders cj. Genome Med. 2015 Sep 30;7:100. doi: 10.1186/s13073-015-0221-8. Genome Med. 2015. PMID: 26419432 Free PMC article.
132 results