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164 results

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Page 1
Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association.
Agochukwu NB, Pineda-Alvarez DE, Keaton AA, Warren-Mora N, Raam MS, Kamat A, Chandrasekharappa SC, Solomon BD. Agochukwu NB, et al. Among authors: chandrasekharappa sc. Eur J Med Genet. 2011 May-Jun;54(3):323-8. doi: 10.1016/j.ejmg.2011.01.007. Epub 2011 Feb 26. Eur J Med Genet. 2011. PMID: 21315191 Free PMC article.
De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene.
Solomon BD, Pineda-Alvarez DE, Hadley DW, Keaton AA, Agochukwu NB, Raam MS, Carlson-Donohoe HE, Kamat A, Chandrasekharappa SC. Solomon BD, et al. Among authors: chandrasekharappa sc. Birth Defects Res A Clin Mol Teratol. 2011 Sep;91(9):862-5. doi: 10.1002/bdra.20821. Epub 2011 May 23. Birth Defects Res A Clin Mol Teratol. 2011. PMID: 21608104 Free PMC article.
Personalized genomic medicine: lessons from the exome.
Solomon BD, Pineda-Alvarez DE, Hadley DW, NISC Comparative Sequencing Program, Teer JK, Cherukuri PF, Hansen NF, Cruz P, Young AC, Blakesley RW, Lanpher B, Mayfield Gibson S, Sincan M, Chandrasekharappa SC, Mullikin JC. Solomon BD, et al. Among authors: chandrasekharappa sc. Mol Genet Metab. 2011 Sep-Oct;104(1-2):189-91. doi: 10.1016/j.ymgme.2011.06.022. Epub 2011 Jul 5. Mol Genet Metab. 2011. PMID: 21767969 Free PMC article.
Incidental medical information in whole-exome sequencing.
Solomon BD, Hadley DW, Pineda-Alvarez DE; NISC Comparative Sequencing Program; Kamat A, Teer JK, Cherukuri PF, Hansen NF, Cruz P, Young AC, Berkman BE, Chandrasekharappa SC, Mullikin JC. Solomon BD, et al. Among authors: chandrasekharappa sc. Pediatrics. 2012 Jun;129(6):e1605-11. doi: 10.1542/peds.2011-0080. Epub 2012 May 14. Pediatrics. 2012. PMID: 22585771 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. Among authors: chandrasekharappa sc. 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. Among authors: chandrasekharappa sc. 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.
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.
Chandrasekharappa SC, Lach FP, Kimble DC, Kamat A, Teer JK, Donovan FX, Flynn E, Sen SK, Thongthip S, Sanborn E, Smogorzewska A, Auerbach AD, Ostrander EA; NISC Comparative Sequencing Program. Chandrasekharappa SC, et al. Blood. 2013 May 30;121(22):e138-48. doi: 10.1182/blood-2012-12-474585. Epub 2013 Apr 23. Blood. 2013. PMID: 23613520 Free PMC article.
Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association.
Solomon BD, Pineda-Alvarez DE, Hadley DW, Hansen NF, Kamat A, Donovan FX, Chandrasekharappa SC, Hong SK, Roessler E, Mullikin JC; NISC Comparative Sequencing Program. Solomon BD, et al. Among authors: chandrasekharappa sc. Mol Syndromol. 2013 Feb;4(1-2):27-31. doi: 10.1159/000345406. Mol Syndromol. 2013. PMID: 23653574 Free PMC article.
164 results