Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.

Autor Carolina J Jorgez, Jill A Rosenfeld, Nathan R Wilken, Hima V Vangapandu, Aysegul Sahin, Dung Pham, Claudia M B Carvalho, Anne Bandholz, Amanda Miller, David D Weaver, Barbara Burton, Deepti Babu, John S Bamforth, Timothy Wilks, Daniel P Flynn, Elizabeth Roeder, Ankita Patel, Sau W Cheung, James R Lupski, Dolores J Lamb
Vydáno 2014-01-01

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

Autor Xi Luo, Jill A Rosenfeld, Shinya Yamamoto, Tamar Harel, Zhongyuan Zuo, Melissa Hall, Klaas J Wierenga, Matthew T Pastore, Dennis Bartholomew, Mauricio R Delgado, Joshua Rotenberg, Richard Alan Lewis, Lisa Emrick, Carlos A Bacino, Mohammad K Eldomery, Zeynep Coban Akdemir, Fan Xia, Yaping Yang, Seema R Lalani, Timothy Lotze, James R Lupski, Brendan Lee, Hugo J Bellen, Michael F Wangler, Members of the UDN
Vydáno 2017-07-01

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

Autor Mohammad K. Eldomery, Zeynep C. Akdemir, F.-Nora Vögtle, Wu-Lin Charng, Patrycja Mulica, Jill A. Rosenfeld, Tomasz Gambin, Shen Gu, Lindsay C. Burrage, Aisha Al Shamsi, Samantha Penney, Shalini N. Jhangiani, Holly H. Zimmerman, Donna M. Muzny, Xia Wang, Jia Tang, Ravi Medikonda, Prasanna V. Ramachandran, Lee-Jun Wong, Eric Boerwinkle, Richard A. Gibbs, Christine M. Eng, Seema R. Lalani, Jozef Hertecant, Richard J. Rodenburg, Omar A. Abdul-Rahman, Yaping Yang, Fan Xia, Meng C. Wang, James R. Lupski, Chris Meisinger, V. Reid Sutton
Vydáno 2016-11-01