Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life

por Luperchio, Teresa Romeo, Applegate, Carolyn D., Bodamer, Olaf, Bjornsson, Hans Tomas
Publicado 2019

Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?

por Harris, Jacqueline R., Gao, Christine W., Britton, Jacquelyn F., Applegate, Carolyn D., Bjornsson, Hans T., Fahrner, Jill A.
Publicado 2023

Diagnostic utility of telomere length testing in a hospital-based setting

por Alder, Jonathan K., Hanumanthu, Vidya Sagar, Strong, Margaret A., DeZern, Amy E., Stanley, Susan E., Takemoto, Clifford M., Danilova, Ludmilla, Applegate, Carolyn D., Bolton, Stephen G., Mohr, David W., Brodsky, Robert A., Casella, James F., Greider, Carol W., Jackson, J. Brooks, Armanios, Mary
Publicado 2018

Whole-Exome Sequencing in the molecular diagnosis of individuals with congenital anomalies of kidney and urinary tract and identification of a new causative gene

por Bekheirnia, Mir Reza, Bekheirnia, Nasim, Bainbridge, Matthew N., Gu, Shen, Akdemir, Zeynep Hande Coban, Gambin, Tomek, Janzen, Nicolette K., Jhangiani, Shalini N., Muzny, Donna M., Michael, Mini, Brewer, Eileen D., Elenberg, Ewa, Kale, Arundhati S., Riley, Alyssa A., Swartz, Sarah J., Scott, Daryl A., Yang, Yaping, Srivaths, Poyyapakkam R., Wenderfer, Scott E., Bodurtha, Joann, Applegate, Carolyn D., Velinov, Milen, Myers, Angela, Borovik, Lior, Craigen, William J., Hanchard, Neil A., Rosenfeld, Jill A., Lewis, Richard Alan, Gonzales, Edmond T., Gibbs, Richard A., Belmont, John W., Roth, David R., Eng, Christine, Braun, Michael C., Lupski, James R., Lamb, Dolores J.
Publicado 2016