Saunders C - Search Results

1

CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.

Saunders C, Smith L, Wibrand F, Ravn K, Bross P, Thiffault I, Christensen M, Atherton A, Farrow E, Miller N, Kingsmore SF, Ostergaard E. Saunders C, et al. Am J Hum Genet. 2015 Feb 5;96(2):258-65. doi: 10.1016/j.ajhg.2014.12.020. Epub 2015 Jan 15. Am J Hum Genet. 2015. PMID: 25597511 Free PMC article.

2

Deep sequencing of patient genomes for disease diagnosis: when will it become routine?

Kingsmore SF, Saunders CJ. Kingsmore SF, et al. Sci Transl Med. 2011 Jun 15;3(87):87ps23. doi: 10.1126/scitranslmed.3002695. Sci Transl Med. 2011. PMID: 21677196 Free PMC article.

3

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing.

Kingsmore SF, Dinwiddie DL, Miller NA, Soden SE, Saunders CJ. Kingsmore SF, et al. Expert Rev Mol Diagn. 2011 Nov;11(8):855-68. doi: 10.1586/erm.11.70. Expert Rev Mol Diagn. 2011. PMID: 22022947 Free PMC article. Review.

4

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. Genome Med. 2012 Mar 29;4(3):25. doi: 10.1186/gm324. eCollection 2012. Genome Med. 2012. PMID: 22458566 Free PMC article.

5

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. Blood. 2012 Mar 29;119(13):3185-7. doi: 10.1182/blood-2012-01-404350. Blood. 2012. PMID: 22461475 Free article. No abstract available.

6

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, Alnadi NA, Andraws N, Patterson ML, Krivohlavek LA, Fellis J, Humphray S, Saffrey P, Kingsbury Z, Weir JC, Betley J, Grocock RJ, Margulies EH, Farrow EG, Artman M, Safina NP, Petrikin JE, Hall KP, Kingsmore SF. Saunders CJ, et al. Sci Transl Med. 2012 Oct 3;4(154):154ra135. doi: 10.1126/scitranslmed.3004041. Sci Transl Med. 2012. PMID: 23035047 Free PMC article.

7

Genomic medicine: evolving science, evolving ethics.

Soden SE, Farrow EG, Saunders CJ, Lantos JD. Soden SE, et al. Per Med. 2012;9(5):523-528. doi: 10.2217/pme.12.56. Per Med. 2012. PMID: 23173007 Free PMC article.

8

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.

Dinwiddie DL, Smith LD, Miller NA, Atherton AM, Farrow EG, Strenk ME, Soden SE, Saunders CJ, Kingsmore SF. Dinwiddie DL, et al. Genomics. 2013 Sep;102(3):148-56. doi: 10.1016/j.ygeno.2013.04.013. Epub 2013 Apr 28. Genomics. 2013. PMID: 23631824 Free PMC article.

9

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.

10

De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.

Dinwiddie DL, Soden SE, Saunders CJ, Miller NA, Farrow EG, Smith LD, Kingsmore SF. Dinwiddie DL, et al. BMC Med Genomics. 2013 Sep 17;6:32. doi: 10.1186/1755-8794-6-32. BMC Med Genomics. 2013. PMID: 24044690 Free PMC article.

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