Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 101

1.

Retention Characteristics of a pH Tunable Water Stationary Phase in Supercritical Fluid Chromatography.

Scott AF, Thurbide KB.

J Chromatogr Sci. 2017 Jan;55(1):82-89. Epub 2016 Oct 7.

PMID:
27993867
2.

Whole exome association of rare deletions in multiplex oral cleft families.

Fu J, Beaty TH, Scott AF, Hetmanski J, Parker MM, Wilson JE, Marazita ML, Mangold E, Albacha-Hejazi H, Murray JC, Bureau A, Carey J, Cristiano S, Ruczinski I, Scharpf RB.

Genet Epidemiol. 2017 Jan;41(1):61-69. doi: 10.1002/gepi.22010. Epub 2016 Dec 1.

PMID:
27910131
3.

A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome.

Mathias RA, Taub MA, Gignoux CR, Fu W, Musharoff S, O'Connor TD, Vergara C, Torgerson DG, Pino-Yanes M, Shringarpure SS, Huang L, Rafaels N, Boorgula MP, Johnston HR, Ortega VE, Levin AM, Song W, Torres R, Padhukasahasram B, Eng C, Mejia-Mejia DA, Ferguson T, Qin ZS, Scott AF, Yazdanbakhsh M, Wilson JG, Marrugo J, Lange LA, Kumar R, Avila PC, Williams LK, Watson H, Ware LB, Olopade C, Olopade O, Oliveira R, Ober C, Nicolae DL, Meyers D, Mayorga A, Knight-Madden J, Hartert T, Hansel NN, Foreman MG, Ford JG, Faruque MU, Dunston GM, Caraballo L, Burchard EG, Bleecker E, Araujo MI, Herrera-Paz EF, Gietzen K, Grus WE, Bamshad M, Bustamante CD, Kenny EE, Hernandez RD, Beaty TH, Ruczinski I, Akey J; CAAPA., Barnes KC.

Nat Commun. 2016 Oct 11;7:12522. doi: 10.1038/ncomms12522.

4.

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.

Hunter JE, Irving SA, Biesecker LG, Buchanan A, Jensen B, Lee K, Martin CL, Milko L, Muessig K, Niehaus AD, O'Daniel J, Piper MA, Ramos EM, Schully SD, Scott AF, Slavotinek A, Sobreira N, Strande N, Weaver M, Webber EM, Williams MS, Berg JS, Evans JP, Goddard KA.

Genet Med. 2016 Dec;18(12):1258-1268. doi: 10.1038/gim.2016.40. Epub 2016 Apr 28.

5.

Vision function testing for a suprachoroidal retinal prosthesis: effects of image filtering.

Barnes N, Scott AF, Lieby P, Petoe MA, McCarthy C, Stacey A, Ayton LN, Sinclair NC, Shivdasani MN, Lovell NH, McDermott HJ, Walker JG.

J Neural Eng. 2016 Jun;13(3):036013. doi: 10.1088/1741-2560/13/3/036013. Epub 2016 Apr 25.

PMID:
27108845
6.

Genomic Characterization of Esophageal Squamous Cell Carcinoma Reveals Critical Genes Underlying Tumorigenesis and Poor Prognosis.

Qin HD, Liao XY, Chen YB, Huang SY, Xue WQ, Li FF, Ge XS, Liu DQ, Cai Q, Long J, Li XZ, Hu YZ, Zhang SD, Zhang LJ, Lehrman B, Scott AF, Lin D, Zeng YX, Shugart YY, Jia WH.

Am J Hum Genet. 2016 Apr 7;98(4):709-27. doi: 10.1016/j.ajhg.2016.02.021.

7.

A multi-omic analysis of human naïve CD4+ T cells.

Mitchell CJ, Getnet D, Kim MS, Manda SS, Kumar P, Huang TC, Pinto SM, Nirujogi RS, Iwasaki M, Shaw PG, Wu X, Zhong J, Chaerkady R, Marimuthu A, Muthusamy B, Sahasrabuddhe NA, Raju R, Bowman C, Danilova L, Cutler J, Kelkar DS, Drake CG, Prasad TS, Marchionni L, Murakami PN, Scott AF, Shi L, Thierry-Mieg J, Thierry-Mieg D, Irizarry R, Cope L, Ishihama Y, Wang C, Gowda H, Pandey A.

BMC Syst Biol. 2015 Nov 6;9:75. doi: 10.1186/s12918-015-0225-4.

8.

Novel evidence of association with nonsyndromic cleft lip with or without cleft palate was shown for single nucleotide polymorphisms in FOXF2 gene in an Asian population.

Bu L, Chen Q, Wang H, Zhang T, Hetmanski JB, Schwender H, Parker M, Chou YH, Yeow V, Chong SS, Zhang B, Jabs EW, Scott AF, Beaty TH.

Birth Defects Res A Clin Mol Teratol. 2015 Oct;103(10):857-62. doi: 10.1002/bdra.23413. Epub 2015 Aug 17.

9.

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.

Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA; Centers for Mendelian Genomics., Bamshad MJ.

Am J Hum Genet. 2015 Aug 6;97(2):199-215. doi: 10.1016/j.ajhg.2015.06.009. Epub 2015 Jul 9. Review.

10.

A genome-wide study of inherited deletions identified two regions associated with nonsyndromic isolated oral clefts.

Younkin SG, Scharpf RB, Schwender H, Parker MM, Scott AF, Marazita ML, Beaty TH, Ruczinski I.

Birth Defects Res A Clin Mol Teratol. 2015 Apr;103(4):276-83. doi: 10.1002/bdra.23362. Epub 2015 Mar 16.

11.

Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.

Leslie EJ, Taub MA, Liu H, Steinberg KM, Koboldt DC, Zhang Q, Carlson JC, Hetmanski JB, Wang H, Larson DE, Fulton RS, Kousa YA, Fakhouri WD, Naji A, Ruczinski I, Begum F, Parker MM, Busch T, Standley J, Rigdon J, Hecht JT, Scott AF, Wehby GL, Christensen K, Czeizel AE, Deleyiannis FW, Schutte BC, Wilson RK, Cornell RA, Lidral AC, Weinstock GM, Beaty TH, Marazita ML, Murray JC.

Am J Hum Genet. 2015 Mar 5;96(3):397-411. doi: 10.1016/j.ajhg.2015.01.004. Epub 2015 Feb 19.

12.

Neurophysiological Monitoring During Spinal Cord Stimulator Placement Surgery.

Tamkus AA, Scott AF, Khan FR.

Neuromodulation. 2015 Aug;18(6):460-4; discussion 464. doi: 10.1111/ner.12273. Epub 2015 Feb 10.

PMID:
25677059
13.

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.

Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A.

Nucleic Acids Res. 2015 Jan;43(Database issue):D789-98. doi: 10.1093/nar/gku1205. Epub 2014 Nov 26.

14.

Joint testing of genotypic and gene-environment interaction identified novel association for BMP4 with non-syndromic CL/P in an Asian population using data from an International Cleft Consortium.

Chen Q, Wang H, Schwender H, Zhang T, Hetmanski JB, Chou YH, Ye X, Yeow V, Chong SS, Zhang B, Jabs EW, Parker MM, Scott AF, Beaty TH.

PLoS One. 2014 Oct 10;9(10):e109038. doi: 10.1371/journal.pone.0109038. eCollection 2014.

15.

Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.

Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW.

JAMA Ophthalmol. 2014 Oct;132(10):1215-20. doi: 10.1001/jamaophthalmol.2014.1731.

PMID:
24993872
16.

Characterization of the genomic architecture and mutational spectrum of a small cell prostate carcinoma.

Scott AF, Mohr DW, Ling H, Scharpf RB, Zhang P, Liptak GS.

Genes (Basel). 2014 May 12;5(2):366-84. doi: 10.3390/genes5020366.

17.

Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts.

Bureau A, Parker MM, Ruczinski I, Taub MA, Marazita ML, Murray JC, Mangold E, Noethen MM, Ludwig KU, Hetmanski JB, Bailey-Wilson JE, Cropp CD, Li Q, Szymczak S, Albacha-Hejazi H, Alqosayer K, Field LL, Wu-Chou YH, Doheny KF, Ling H, Scott AF, Beaty TH.

Genetics. 2014 Jul;197(3):1039-44. doi: 10.1534/genetics.114.165225. Epub 2014 May 2.

18.

Mutations in Alström protein impair terminal differentiation of cardiomyocytes.

Shenje LT, Andersen P, Halushka MK, Lui C, Fernandez L, Collin GB, Amat-Alarcon N, Meschino W, Cutz E, Chang K, Yonescu R, Batista DA, Chen Y, Chelko S, Crosson JE, Scheel J, Vricella L, Craig BD, Marosy BA, Mohr DW, Hetrick KN, Romm JM, Scott AF, Valle D, Naggert JK, Kwon C, Doheny KF, Judge DP.

Nat Commun. 2014 Mar 4;5:3416. doi: 10.1038/ncomms4416.

19.

A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk.

Younkin SG, Scharpf RB, Schwender H, Parker MM, Scott AF, Marazita ML, Beaty TH, Ruczinski I.

BMC Genet. 2014 Feb 14;15:24. doi: 10.1186/1471-2156-15-24.

20.

Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate.

Wu T, Schwender H, Ruczinski I, Murray JC, Marazita ML, Munger RG, Hetmanski JB, Parker MM, Wang P, Murray T, Taub M, Li S, Redett RJ, Fallin MD, Liang KY, Wu-Chou YH, Chong SS, Yeow V, Ye X, Wang H, Huang S, Jabs EW, Shi B, Wilcox AJ, Jee SH, Scott AF, Beaty TH.

PLoS One. 2014 Feb 6;9(2):e88088. doi: 10.1371/journal.pone.0088088. eCollection 2014.

Supplemental Content

Loading ...
Support Center