Sheridan MB - Search Results

1

Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.

Raraigh KS, Han ST, Davis E, Evans TA, Pellicore MJ, McCague AF, Joynt AT, Lu Z, Atalar M, Sharma N, Sheridan MB, Sosnay PR, Cutting GR. Raraigh KS, et al. Among authors: sheridan mb. Am J Hum Genet. 2018 Jun 7;102(6):1062-1077. doi: 10.1016/j.ajhg.2018.04.003. Epub 2018 May 24. Am J Hum Genet. 2018. PMID: 29805046 Free PMC article.

2

Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.

Sheridan MB, Fong P, Groman JD, Conrad C, Flume P, Diaz R, Harris C, Knowles M, Cutting GR. Sheridan MB, et al. Hum Mol Genet. 2005 Nov 15;14(22):3493-8. doi: 10.1093/hmg/ddi374. Epub 2005 Oct 5. Hum Mol Genet. 2005. PMID: 16207733

3

Accurate assignment of disease liability to genetic variants using only population data.

Collaco JM, Raraigh KS, Betz J, Aksit MA, Blau N, Brown J, Dietz HC, MacCarrick G, Nogee LM, Sheridan MB, Vernon HJ, Beaty TH, Louis TA, Cutting GR. Collaco JM, et al. Among authors: sheridan mb. Genet Med. 2022 Jan;24(1):87-99. doi: 10.1016/j.gim.2021.08.012. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906463 Free PMC article.

4

CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.

Sheridan MB, Hefferon TW, Wang N, Merlo C, Milla C, Borowitz D, Green ED, Mogayzel PJ Jr, Cutting GR. Sheridan MB, et al. J Med Genet. 2011 Apr;48(4):235-41. doi: 10.1136/jmg.2010.083287. Epub 2010 Nov 20. J Med Genet. 2011. PMID: 21097845 Free PMC article.

5

Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis.

Groman JD, Karczeski B, Sheridan M, Robinson TE, Fallin MD, Cutting GR. Groman JD, et al. J Pediatr. 2005 May;146(5):675-80. doi: 10.1016/j.jpeds.2004.12.020. J Pediatr. 2005. PMID: 15870673 Free PMC article.

6

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.

Férec C, Casals T, Chuzhanova N, Macek M Jr, Bienvenu T, Holubova A, King C, McDevitt T, Castellani C, Farrell PM, Sheridan M, Pantaleo SJ, Loumi O, Messaoud T, Cuppens H, Torricelli F, Cutting GR, Williamson R, Ramos MJ, Pignatti PF, Raguénès O, Cooper DN, Audrézet MP, Chen JM. Férec C, et al. Eur J Hum Genet. 2006 May;14(5):567-76. doi: 10.1038/sj.ejhg.5201590. Eur J Hum Genet. 2006. PMID: 16493442

7

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome.

Sheridan MB, Wohler E, Batista DA, Applegate C, Hoover-Fong J. Sheridan MB, et al. Case Rep Genet. 2015;2015:169482. doi: 10.1155/2015/169482. Epub 2015 Nov 17. Case Rep Genet. 2015. PMID: 26664771 Free PMC article.

8

Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.

Sheridan MB, Bytyci Telegrafi A, Stinnett V, Umeh CC, Mari Z, Dawson TM, Bodurtha J, Batista DA. Sheridan MB, et al. Clin Genet. 2013 Oct;84(4):368-72. doi: 10.1111/cge.12075. Epub 2013 Jan 20. Clin Genet. 2013. PMID: 23237735 Free PMC article.

9

The impact of chromosomal microarray on clinical management: a retrospective analysis.

Henderson LB, Applegate CD, Wohler E, Sheridan MB, Hoover-Fong J, Batista DA. Henderson LB, et al. Among authors: sheridan mb. Genet Med. 2014 Sep;16(9):657-64. doi: 10.1038/gim.2014.18. Epub 2014 Mar 13. Genet Med. 2014. PMID: 24625444 Free article.

10

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.

Mlynarski EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, McDonald-McGinn DM, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Goldmuntz E, Bassett AS, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium. Mlynarski EE, et al. Among authors: sheridan mb. Hum Genet. 2016 Mar;135(3):273-85. doi: 10.1007/s00439-015-1623-9. Epub 2016 Jan 7. Hum Genet. 2016. PMID: 26742502 Free PMC article.

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