Molly Sheridan

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 Access

32 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 othersEliez, S., Gothelf, D., Coleman, K., Kates, W. R., Devoto, M., Zackai, E., Heine- Suñer, D., Goldmuntz, E., Bassett, A. S., Morrow, B. E. & Emanuel, B. S., Mar 1 2016, In: Human genetics. 135, 3, p. 273-285 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

25 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 othersEliez, S., Gothelf, D., Coleman, K., Kates, W. R., Devoto, M., Zackai, E., Heine-Suñer, D., Shaikh, T. H., Bassett, A. S., Goldmuntz, E., Morrow, B. E. & Emanuel, B. S., 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 Access

46 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 Access

16 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 Access

46 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 Access

10 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 othersHiggins, A. M., Philip, N., Simon, T., Coleman, K., Heine-Suner, D., Rosell, J., Kates, W., Devoto, M., Zackai, E., Wang, T., Shprintzen, R., Emanuel, B. S. & Morrow, B. E., 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 Access

13 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 Access

10 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 othersPhilip, N., Simon, T. J., Coleman, K., Heine-Suner, D., Rosell, J., Kates, W., Devoto, M., Goldmuntz, E., Zackai, E., Wang, T., Shprintzen, R., Emanuel, B. & Morrow, B., Nov 2011, In: Human mutation. 32, 11, p. 1278-1289 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

45 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 Access

32 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 othersRaguénès, O., Cooper, D. N., Audrézet, M. P. & Chen, J. M., May 2006, In: European Journal of Human Genetics. 14, 5, p. 567-576 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

70 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 Access

62 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 Access

35 Scopus citations

Molly Sheridan

Research output

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