Jabs EW - Search Results

1

Reasons for participating and genetic information needs among racially and ethnically diverse biobank participants: a focus group study.

Streicher SA, Sanderson SC, Jabs EW, Diefenbach M, Smirnoff M, Peter I, Horowitz CR, Brenner B, Richardson LD. Streicher SA, et al. Among authors: jabs ew. J Community Genet. 2011 Sep;2(3):153-63. doi: 10.1007/s12687-011-0052-2. Epub 2011 Jun 7. J Community Genet. 2011. PMID: 22109822 Free PMC article.

2

Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice.

Wang Y, Sun M, Uhlhorn VL, Zhou X, Peter I, Martinez-Abadias N, Hill CA, Percival CJ, Richtsmeier JT, Huso DL, Jabs EW. Wang Y, et al. Among authors: jabs ew. BMC Dev Biol. 2010 Feb 22;10:22. doi: 10.1186/1471-213X-10-22. BMC Dev Biol. 2010. PMID: 20175913 Free PMC article.

3

Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families.

Wu RL, Lawson CS, Jabs EW, Sanderson SC. Wu RL, et al. Among authors: jabs ew. Am J Med Genet A. 2012 Jul;158A(7):1556-67. doi: 10.1002/ajmg.a.35379. Epub 2012 May 24. Am J Med Genet A. 2012. PMID: 22628272

4

Genetic and lifestyle causal beliefs about obesity and associated diseases among ethnically diverse patients: a structured interview study.

Sanderson SC, Diefenbach MA, Streicher SA, Jabs EW, Smirnoff M, Horowitz CR, Zinberg R, Clesca C, Richardson LD. Sanderson SC, et al. Among authors: jabs ew. Public Health Genomics. 2013;16(3):83-93. doi: 10.1159/000343793. Epub 2012 Dec 12. Public Health Genomics. 2013. PMID: 23235350 Free PMC article.

5

Willingness to participate in genomics research and desire for personal results among underrepresented minority patients: a structured interview study.

Sanderson SC, Diefenbach MA, Zinberg R, Horowitz CR, Smirnoff M, Zweig M, Streicher S, Jabs EW, Richardson LD. Sanderson SC, et al. Among authors: jabs ew. J Community Genet. 2013 Oct;4(4):469-82. doi: 10.1007/s12687-013-0154-0. Epub 2013 Jun 22. J Community Genet. 2013. PMID: 23794263 Free PMC article.

6

Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.

Heuzé Y, Holmes G, Peter I, Richtsmeier JT, Jabs EW. Heuzé Y, et al. Among authors: jabs ew. Curr Genet Med Rep. 2014 Sep 1;2(3):135-145. doi: 10.1007/s40142-014-0042-x. Curr Genet Med Rep. 2014. PMID: 26146596 Free PMC article.

7

Development and preliminary evaluation of an online educational video about whole-genome sequencing for research participants, patients, and the general public.

Sanderson SC, Suckiel SA, Zweig M, Bottinger EP, Jabs EW, Richardson LD. Sanderson SC, et al. Among authors: jabs ew. Genet Med. 2016 May;18(5):501-12. doi: 10.1038/gim.2015.118. Epub 2015 Sep 3. Genet Med. 2016. PMID: 26334178 Free PMC article.

8

Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.

Ye X, Guilmatre A, Reva B, Peter I, Heuzé Y, Richtsmeier JT, Fox DJ, Goedken RJ, Jabs EW, Romitti PA. Ye X, et al. Among authors: jabs ew. Plast Reconstr Surg. 2016 Mar;137(3):952-961. doi: 10.1097/01.prs.0000479978.75545.ee. Plast Reconstr Surg. 2016. PMID: 26910679 Free PMC article.

9

Nonsyndromic craniosynostosis: novel coding variants.

Sewda A, White SR, Erazo M, Hao K, García-Fructuoso G, Fernández-Rodriguez I, Heuzé Y, Richtsmeier JT, Romitti PA, Reva B, Jabs EW, Peter I. Sewda A, et al. Among authors: jabs ew. Pediatr Res. 2019 Mar;85(4):463-468. doi: 10.1038/s41390-019-0274-2. Epub 2019 Jan 14. Pediatr Res. 2019. PMID: 30651579 Free PMC article.

10

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.

Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli ML, Schnur RE, Manouvrier S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Hennekam RC, Jabs EW. Vega H, et al. Among authors: jabs ew. J Med Genet. 2010 Jan;47(1):30-7. doi: 10.1136/jmg.2009.068395. Epub 2009 Jul 1. J Med Genet. 2010. PMID: 19574259

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