| Year |
Citation |
Score |
| 2024 |
Li D, Jan de Beur S, Hou C, Ruzhnikov MR, Seeley H, Cutting GR, Sheridan MB, Levine MA. Recurrent Small Variants in NESP55/NESPAS Associated with Broad GNAS Methylation Defects and Pseudohypoparathyroidism Type 1b. Jci Insight. PMID 39541438 DOI: 10.1172/jci.insight.185874 |
0.511 |
|
| 2024 |
Sheridan MB, Aksit MA, Pagel K, Hetrick K, Shultz-Lutwyche H, Myers B, Buckingham KJ, Pace RG, Ling H, Pugh E, O'Neal WK, Bamshad MJ, Gibson RL, Knowles MR, Blackman SM, et al. The clinical utility of sequencing the entirety of CFTR. Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society. PMID 38734509 DOI: 10.1016/j.jcf.2024.04.018 |
0.589 |
|
| 2021 |
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. Accurate assignment of disease liability to genetic variants using only population data. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34906463 DOI: 10.1016/j.gim.2021.08.012 |
0.429 |
|
| 2018 |
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. Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity. American Journal of Human Genetics. PMID 29805046 DOI: 10.1016/J.Ajhg.2018.04.003 |
0.603 |
|
| 2015 |
Sheridan MB, Wohler E, Batista DA, Applegate C, Hoover-Fong J. The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome. Case Reports in Genetics. 2015: 169482. PMID 26664771 DOI: 10.1155/2015/169482 |
0.645 |
|
| 2014 |
Henderson LB, Applegate CD, Wohler E, Sheridan MB, Hoover-Fong J, Batista DA. The impact of chromosomal microarray on clinical management: a retrospective analysis. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 657-64. PMID 24625444 DOI: 10.1038/Gim.2014.18 |
0.501 |
|
| 2011 |
Sheridan MB, Hefferon TW, Wang N, Merlo C, Milla C, Borowitz D, Green ED, Mogayzel PJ, Cutting GR. CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR. Journal of Medical Genetics. 48: 235-41. PMID 21097845 DOI: 10.1136/Jmg.2010.083287 |
0.731 |
|
| 2006 |
Férec C, Casals T, Chuzhanova N, Macek M, Bienvenu T, Holubova A, King C, McDevitt T, Castellani C, Farrell PM, Sheridan M, Pantaleo SJ, Loumi O, Messaoud T, Cuppens H, et al. 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. European Journal of Human Genetics : Ejhg. 14: 567-76. PMID 16493442 DOI: 10.1038/Sj.Ejhg.5201590 |
0.625 |
|
| 2005 |
Sheridan MB, Fong P, Groman JD, Conrad C, Flume P, Diaz R, Harris C, Knowles M, Cutting GR. Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. Human Molecular Genetics. 14: 3493-8. PMID 16207733 DOI: 10.1093/Hmg/Ddi374 |
0.66 |
|
| 2005 |
Groman JD, Karczeski B, Sheridan M, Robinson TE, Fallin MD, Cutting GR. Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis. The Journal of Pediatrics. 146: 675-80. PMID 15870673 DOI: 10.1016/J.Jpeds.2004.12.020 |
0.67 |
|
| Show low-probability matches. |