Authors: Jordan, Valerie K., Fregeau, Brieana, Ge, Xiaoyan, Giordano, Jessica, Wapner, Ronald J., Balci, Tugce B., Carter, Melissa T., Bernat, John A., Moccia, Amanda N., Srivastava, Anshika, Martin, Donna M., Bielas, Stephanie L., Pappas, John, Svoboda, Melissa D., Rio, Marlène, Boddaert, Nathalie, Cantagrel, Vincent, Lewis, Andrea M., Scaglia, Fernando, Kohler, Jennefer N., Bernstein, Jonathan A., Dries, Annika M., Rosenfeld, Jill A., DeFilippo, Colette, Thorson, Willa, Yang, Yaping, Sherr, Elliott H., Bi, Weimin, Scott, Daryl A.

Subject Terms: RERE, 1p36 deletion syndrome, CHARGE syndrome, CHD7, genotype–phenotype correlations, NEDBEH, Genetics, Health Sciences, Science

File Description: application/pdf

Relation: Jordan, Valerie K.; Fregeau, Brieana; Ge, Xiaoyan; Giordano, Jessica; Wapner, Ronald J.; Balci, Tugce B.; Carter, Melissa T.; Bernat, John A.; Moccia, Amanda N.; Srivastava, Anshika; Martin, Donna M.; Bielas, Stephanie L.; Pappas, John; Svoboda, Melissa D.; Rio, Marlène; Boddaert, Nathalie; Cantagrel, Vincent; Lewis, Andrea M.; Scaglia, Fernando; Kohler, Jennefer N.; Bernstein, Jonathan A.; Dries, Annika M.; Rosenfeld, Jill A.; DeFilippo, Colette; Thorson, Willa; Yang, Yaping; Sherr, Elliott H.; Bi, Weimin; Scott, Daryl A. (2018). "Genotype–phenotype correlations in individuals with pathogenic RERE variants." Human Mutation 39(5): 666-675.; https://hdl.handle.net/2027.42/143789; Human Mutation; Jordan, V. K., Zaveri, H. P., & Scott, D. A. ( 2015 ). 1p36 deletion syndrome: An update. Applications of Clinical Genetics, 8, 189 – 200. https://doi.org/10.2147/TACG.S65698; Hurd, E. A., Micucci, J. A., Reamer, E. N., & Martin, D. M. ( 2012 ). 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Availability: https://doi.org/10.1002/humu.23400
https://doi.org/10.1016/j.ajhg.2016.03.002
https://doi.org/10.1038/ng1407
https://doi.org/10.1093/hmg/ddt435
https://doi.org/10.1086/500273
https://doi.org/10.1371/journal.pone.0057460
https://doi.org/10.1111/j.1399-0004.2007.00876.x
https://doi.org/10.1158/0008-5472.CAN-12-1667
https://doi.org/10.1038/ejhg.2013.77
https://doi.org/10.1038/s41467-017-00593-6