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Publications

Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations, Rainger, Joe, Pehlivan Davut, Johansson Stefan, Bengani Hemant, Sanchez-Pulido Luis, Williamson Kathleen A., Ture Mehmet, Barker Heather, Rosendahl Karen, Spranger Jürgen, et al. , The American Journal of Human Genetics, 06/2014, Volume 94, Issue 6, p.915 - 923, (2014)
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population, Gonzaga-Jauregui, Claudia, Gamble Candace N., Yuan Bo, Penney Samantha, Jhangiani Shalini, Muzny Donna M., Gibbs Richard A., Lupski James R., and Hecht Jacqueline T. , European Journal of Human Genetics, 07/2014, (2014)
Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Wangler, Michael F., Gonzaga-Jauregui Claudia, Gambin Tomasz, Penney Samantha, Moss Timothy, Chopra Atul, Probst Frank J., Xia Fan, Yang Yaping, Werlin Steven, et al. , PLoS Genetics, 3/2014, Volume 10, Issue 3, p.e1004258, (2014)
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy, Lupski, James R., Gonzaga-Jauregui Claudia, Yang Yaping, Bainbridge Matthew N., Jhangiani Shalini, Buhay Christian J., Kovar Christie L., Wang Min, Hawes Alicia C., Reid Jeffrey G., et al. , Genome Medicine, 2013, Volume 5, Issue 6, p.57, (2013)


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