Research output per year
Research output per year
Research output
- 16 Article
- 16 results
Search results
-
2024
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
The Critical Assessment of Genome Interpretation Consortium, Dec 2024, In: Genome biology. 25, 1, 53.Research output: Contribution to journal › Article › peer-review
Open Access -
2022
Accurate assignment of disease liability to genetic variants using only population data
Collaco, J. M., Raraigh, K. S., Betz, J., Aksit, M. A., Blau, N., Brown, J., Dietz, H. C., MacCarrick, G., Nogee, L. M., Sheridan, M. B., Vernon, H. J., Beaty, T. H., Louis, T. & Cutting, G. R., Jan 2022, In: Genetics in Medicine. 24, 1, p. 87-99 13 p.Research output: Contribution to journal › Article › peer-review
Open Access -
2018
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity
Raraigh, K. S., Han, S. T., Davis, E., Evans, T. A., Pellicore, M. J., McCague, A. F., Joynt, A. T., Lu, Z., Atalar, M., Sharma, N., Sheridan, M. B., Sosnay, P. R. & Cutting, G. R., Jun 7 2018, In: American journal of human genetics. 102, 6, p. 1062-1077 16 p.Research output: Contribution to journal › Article › peer-review
Open Access32 Scopus citations -
2016
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome
Mlynarski, E. E., Xie, M., Taylor, D., Sheridan, M. B., Guo, T., Racedo, S. E., McDonald-McGinn, D. M., Chow, E. W. C., Vorstman, J., Swillen, A., Devriendt, K., Breckpot, J., Digilio, M. C., Marino, B., Dallapiccola, B., Philip, N., Simon, T. J., Roberts, A. E., Piotrowicz, M., Bearden, C. E., & 11 others, Mar 1 2016, In: Human genetics. 135, 3, p. 273-285 13 p.Research output: Contribution to journal › Article › peer-review
Open Access25 Scopus citations -
2015
Copy-number variation of the glucose transporter gene SLC2A3 and congenital heart defects in the 22q11.2 deletion syndrome
Mlynarski, E. E., Sheridan, M. B., Xie, M., Guo, T., Racedo, S. E., McDonald-Mcginn, D. M., Gai, X., Chow, E. W. C., Vorstman, J., Swillen, A., Devriendt, K., Breckpot, J., Digilio, M. C., Marino, B., Dallapiccola, B., Philip, N., Simon, T. J., Roberts, A. E., Piotrowicz, M., Bearden, C. E., & 12 others, May 7 2015, In: American journal of human genetics. 96, 5, p. 753-764 12 p.Research output: Contribution to journal › Article › peer-review
Open Access46 Scopus citations -
2014
Analysis of the t(3;8) of hereditary renal cell carcinoma: A palindrome-mediated translocation
Kato, T., Franconi, C. P., Sheridan, M. B., Hacker, A. M., Inagakai, H., Glover, T. W., Arlt, M. F., Drabkin, H. A., Gemmill, R. M., Kurahashi, H. & Emanuel, B. S., Apr 2014, In: Cancer Genetics. 207, 4, p. 133-140 8 p.Research output: Contribution to journal › Article › peer-review
Open Access16 Scopus citations -
The impact of chromosomal microarray on clinical management: A retrospective analysis
Henderson, L. B., Applegate, C. D., Wohler, E., Sheridan, M. B., Hoover-Fong, J. & Batista, D. A. S., Sep 11 2014, In: Genetics in Medicine. 16, 9, p. 657-664 8 p.Research output: Contribution to journal › Article › peer-review
Open Access46 Scopus citations -
2013
A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients
Widdershoven, J. C. C., Bowser, M., Sheridan, M. B., McDonald-McGinn, D. M., Zackai, E. H., Solot, C. B., Kirschner, R. E., Beemer, F. A., Morrow, B. E., Devoto, M. & Emanuel, B. S., Jan 2013, In: International Journal of Pediatric Otorhinolaryngology. 77, 1, p. 123-127 5 p.Research output: Contribution to journal › Article › peer-review
7 Scopus citations -
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7
Sheridan, M., Bytyci Telegrafi, A., Stinnett, V., Umeh, C., Mari, Z., Dawson, T., Bodurtha, J. & Batista, D., Oct 2013, In: Clinical Genetics. 84, 4, p. 368-372 5 p.Research output: Contribution to journal › Article › peer-review
Open Access10 Scopus citations -
2012
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients
Herman, S. B., Guo, T., Mcginn, D. M. M., Blonska, A., Shanske, A. L., Bassett, A. S., Chow, E. W. C., Bowser, M., Sheridan, M., Beemer, F., Devriendt, K., Swillen, A., Breckpot, J., Digilio, M. C., Marino, B., Dallapiccola, B., Carpenter, C., Zheng, X., Johnson, J., Chung, J., & 13 others, Nov 2012, In: American Journal of Medical Genetics, Part A. 158 A, 11, p. 2781-2787 7 p.Research output: Contribution to journal › Article › peer-review
Open Access13 Scopus citations -
2011
CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR
Sheridan, M. B., Hefferon, T. W., Wang, N., Merlo, C., Milla, C., Borowitz, D., Green, E. D., Mogayzel, P. J. & Cutting, G. R., Apr 2011, In: Journal of medical genetics. 48, 4, p. 235-241 7 p.Research output: Contribution to journal › Article › peer-review
Open Access10 Scopus citations -
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients
Guo, T., Mcdonald-Mcginn, D., Blonska, A., Shanske, A., Bassett, A. S., Chow, E., Bowser, M., Sheridan, M., Beemer, F., Devriendt, K., Swillen, A., Breckpot, J., Digilio, M. C., Marino, B., Dallapiccola, B., Carpenter, C., Zheng, X., Johnson, J., Chung, J., Higgins, A. M., & 13 others, Nov 2011, In: Human mutation. 32, 11, p. 1278-1289 12 p.Research output: Contribution to journal › Article › peer-review
Open Access45 Scopus citations -
2010
A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: The t(8;22)(q24.13;q11.21)
Sheridan, M. B., Kato, T., Haldeman-Englert, C., Jalali, G. R., Milunsky, J. M., Zou, Y., Klaes, R., Gimelli, G., Gimelli, S., Gemmill, R. M., Drabkin, H. A., Hacker, A. M., Brown, J., Tomkins, D., Shaikh, T. H., Kurahashi, H., Zackai, E. H. & Emanuel, B. S., Aug 13 2010, In: American journal of human genetics. 87, 2, p. 209-218 10 p.Research output: Contribution to journal › Article › peer-review
Open Access32 Scopus citations -
2006
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., Bienvenu, T., Holubova, A., King, C., McDevitt, T., Castellani, C., Farrell, P. M., Sheridan, M., Pantaleo, S. J., Loumi, O., Messaoud, T., Cuppens, H., Torricelli, F., Cutting, G. R., Williamson, R., Ramos, M. J. A., Pignatti, P. F., & 4 others, May 2006, In: European Journal of Human Genetics. 14, 5, p. 567-576 10 p.Research output: Contribution to journal › Article › peer-review
Open Access70 Scopus citations -
2005
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome
Sheridan, M. B., Fong, P., Groman, J. D., Conrad, C., Flume, P., Diaz, R., Harris, C., Knowles, M. & Cutting, G. R., Nov 15 2005, In: Human molecular genetics. 14, 22, p. 3493-3498 6 p.Research output: Contribution to journal › Article › peer-review
Open Access62 Scopus citations -
Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis
Groman, J. D., Karczeski, B., Sheridan, M., Robinson, T. E., Fallin, M. D. & Cutting, G. R., May 2005, In: Journal of Pediatrics. 146, 5, p. 675-680 6 p.Research output: Contribution to journal › Article › peer-review
Open Access35 Scopus citations