Integrated small copy number variations and epigenome maps of disorders of sex development

Por Amarillo, Ina E, Nievera, Isabelle, Hagan, Andrew, Huchthagowder, Vishwa, Heeley, Jennifer, Hollander, Abby, Koenig, Joel, Austin, Paul, Wang, Ting
Publicado no Hum Genome Var (2016)

The Exome Clinic and the Role of Medical Genetics Expertise in Interpretation of Exome Sequencing Results

Por Baldridge, Dustin, Heeley, Jennifer, Vineyard, Marisa, Manwaring, Linda, Toler, Tomi L, Fassi, Emily, Fiala, Elise, Brown, Sarah, Goss, Charles W., Willing, Marcia, Grange, Dorothy K, Kozel, Beth A, Shinawi, Marwan
Publicado no Genet Med (2017)

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability

Por Pilarowski, Genay O., Vernon, Hilary J., Applegate, Carolyn D., Boukas, Leandros, Cho, Megan T., Gurnett, Christina A., Benke, Paul J., Beaver, Erin, Heeley, Jennifer M., Medne, Livija, Krantz, Ian D., Azage, Meron, Niyazov, Dmitriy, Henderson, Lindsay B., Wentzensen, Ingrid M., Baskin, Berivan, Guillen Sacoto, Maria J., Bowman, Gregory D., Bjornsson, Hans Tomas
Publicado no J Med Genet (2017)

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

Por White, Janson J., Mazzeu, Juliana F., Coban-Akdemir, Zeynep, Bayram, Yavuz, Bahrambeigi, Vahid, Hoischen, Alexander, van Bon, Bregje W.M., Gezdirici, Alper, Gulec, Elif Yilmaz, Ramond, Francis, Touraine, Renaud, Thevenon, Julien, Shinawi, Marwan, Beaver, Erin, Heeley, Jennifer, Hoover-Fong, Julie, Durmaz, Ceren D., Karabulut, Halil Gurhan, Marzioglu-Ozdemir, Ebru, Cayir, Atilla, Duz, Mehmet B., Seven, Mehmet, Price, Susan, Ferreira, Barbara Merfort, Vianna-Morgante, Angela M., Ellard, Sian, Parrish, Andrew, Stals, Karen, Flores-Daboub, Josue, Jhangiani, Shalini N., Gibbs, Richard A., Brunner, Han G., Sutton, V. Reid, Lupski, James R., Carvalho, Claudia M.B.
Publicado no Am J Hum Genet (2018)