Copy Number Variation of the glucose transporter gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome
Mlynarski, Elisabeth E., Sheridan, Molly B., Xie, Michael, Guo, Tingwei, Racedo, Silvia E., McDonald McGinn, Donna M., Gai, Xiaowu, Chow, Eva W.C., Vorstman, Jacob, Swillen, Ann, Devriendt, Koen, Breckpot, Jeroen, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno, Philip, Nicole, Simon, Tony J., Roberts, Amy E., Piotrowicz, Małgorzata, Bearden, Carrie E., Eliez, Stephan, Gothelf, Doron, Coleman, Karlene, Kates, Wendy R., Devoto, Marcella, Zackai, Elaine, Heine-Suñer, Damian, Shaikh, Tamim H., Bassett, Anne S., Goldmuntz, Elizabeth, Morrow, Bernice E., Emanuel, Beverly S.
Published in American journal of human genetics (07.05.2015)
Published in American journal of human genetics (07.05.2015)
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Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome
Mlynarski, Elisabeth E., Xie, Michael, Taylor, Deanne, Sheridan, Molly B., Guo, Tingwei, Racedo, Silvia E., McDonald-McGinn, Donna M., Chow, Eva W. C., Vorstman, Jacob, Swillen, Ann, Devriendt, Koen, Breckpot, Jeroen, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno, Philip, Nicole, Simon, Tony J., Roberts, Amy E., Piotrowicz, Małgorzata, Bearden, Carrie E., Eliez, Stephan, Gothelf, Doron, Coleman, Karlene, Kates, Wendy R., Devoto, Marcella, Zackai, Elaine, Heine- Suñer, Damian, Goldmuntz, Elizabeth, Bassett, Anne S., Morrow, Bernice E., Emanuel, Beverly S.
Published in Human genetics (01.03.2016)
Published in Human genetics (01.03.2016)
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Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity
Raraigh, Karen S., Han, Sangwoo T., Davis, Emily, Evans, Taylor A., Pellicore, Matthew J., McCague, Allison F., Joynt, Anya T., Lu, Zhongzhou, Atalar, Melis, Sharma, Neeraj, Sheridan, Molly B., Sosnay, Patrick R., Cutting, Garry R.
Published in American journal of human genetics (07.06.2018)
Published in American journal of human genetics (07.06.2018)
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The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Applegate, Carolyn, Batista, Denise A. S., Wohler, Elizabeth, Sheridan, Molly B., Hoover-Fong, Julie
Published in Case reports in genetics (01.01.2015)
Published in Case reports in genetics (01.01.2015)
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Accurate assignment of disease liability to genetic variants using only population data
Collaco, Joseph M., Raraigh, Karen S., Betz, Joshua, Aksit, Melis Atalar, Blau, Nenad, Brown, Jordan, Dietz, Harry C., MacCarrick, Gretchen, Nogee, Lawrence M., Sheridan, Molly B., Vernon, Hilary J., Beaty, Terri H., Louis, Thomas A., Cutting, Garry R.
Published in Genetics in medicine (01.01.2022)
Published in Genetics in medicine (01.01.2022)
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The clinical utility of sequencing the entirety of CFTR
Sheridan, Molly B, Aksit, Melis A, Pagel, Kymberleigh, Hetrick, Kurt, Shultz-Lutwyche, Hannah, Myers, Ben, Buckingham, Kati J, Pace, Rhonda G, Ling, Hua, Pugh, Elizabeth, O'Neal, Wanda K, Bamshad, Michael J, Gibson, Ronald L, Knowles, Michael R, Blackman, Scott M, Cutting, Garry R, Raraigh, Karen S
Published in Journal of cystic fibrosis (01.07.2024)
Published in Journal of cystic fibrosis (01.07.2024)
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Journal Article
A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21)
Sheridan, Molly B., Kato, Takema, Haldeman-Englert, Chad, Jalali, G. Reza, Milunsky, Jeff M., Zou, Ying, Klaes, Ruediger, Gimelli, Georgio, Gimelli, Stefania, Gemmill, Robert M., Drabkin, Harry A., Hacker, April M., Brown, Julia, Tomkins, David, Shaikh, Tamim H., Kurahashi, Hiroki, Zackai, Elaine H., Emanuel, Beverly S.
Published in American journal of human genetics (13.08.2010)
Published in American journal of human genetics (13.08.2010)
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Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome
Sheridan, Molly B., Fong, Peying, Groman, Joshua D., Conrad, Carol, Flume, Patrick, Diaz, Ruben, Harris, Christopher, Knowles, Michael, Cutting, Garry R.
Published in Human molecular genetics (15.11.2005)
Published in Human molecular genetics (15.11.2005)
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Journal Article
Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation
Kato, Takema, Franconi, Colleen P, Sheridan, Molly B, Hacker, April M, Inagakai, Hidehito, Glover, Thomas W, Arlt, Martin F, Drabkin, Harry A, Gemmill, Robert M, Kurahashi, Hiroki, Emanuel, Beverly S
Published in Cancer genetics (01.04.2014)
Published in Cancer genetics (01.04.2014)
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CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR
Sheridan, Molly B, Hefferon, Timothy W, Wang, Nulang, Merlo, Christian, Milla, Carlos, Borowitz, Drucy, Green, Eric D, Mogayzel, Peter J, Cutting, Garry R
Published in Journal of medical genetics (01.04.2011)
Published in Journal of medical genetics (01.04.2011)
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Journal Article
A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients
Widdershoven, Josine C.C, Bowser, Mark, Sheridan, Molly B, McDonald-McGinn, Donna M, Zackai, Elaine H, Solot, Cynthia B, Kirschner, Richard E, Beemer, Frits A, Morrow, Bernice E, Devoto, Marcella, Emanuel, Beverly S
Published in International journal of pediatric otorhinolaryngology (01.01.2013)
Published in International journal of pediatric otorhinolaryngology (01.01.2013)
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Journal Article
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, DAS
Published in Clinical genetics (01.10.2013)
Published in Clinical genetics (01.10.2013)
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Journal Article
Mutations in the beta-subunit of the epithelial Na super(+) channel in patients with a cystic fibrosis-like syndrome
Sheridan, Molly B, Fong, Peying, Groman, Joshua D, Conrad, Carol, Flume, Patrick, Diaz, Ruben, Harris, Christopher, Knowles, Michael, Cutting, Garry R
Published in Human molecular genetics (01.11.2005)
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Published in Human molecular genetics (01.11.2005)
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