Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS)

by Shan Chen, Mahim Jain, Shalini Jhangiani, Zeynep C Akdemir, Philippe M Campeau, Robert F Klein, Carrie Nielson, Hongzheng Dai, Donna M Muzny, Eric Boerwinkle, Richard A Gibbs, Eric S Orwoll, James R Lupski, Jennifer E Posey, Brendan Lee
Published 2020-03-01

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

by Jaya Punetha, Ender Karaca, Alper Gezdirici, Ryan E. Lamont, Davut Pehlivan, Dana Marafi, Juan P. Appendino, Jill V. Hunter, Zeynep C. Akdemir, Jawid M. Fatih, Shalini N. Jhangiani, Richard A. Gibbs, A. Micheil Innes, Jennifer E. Posey, James R. Lupski
Published 2019-08-01

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

by Dana Marafi, Tadahiro Mitani, Sedat Isikay, Jozef Hertecant, Mohammed Almannai, Kandamurugu Manickam, Rami Abou Jamra, Ayman W. El‐Hattab, Jaishen Rajah, Jawid M. Fatih, Haowei Du, Ender Karaca, Yavuz Bayram, Jaya Punetha, Jill A. Rosenfeld, Shalini N. Jhangiani, Eric Boerwinkle, Zeynep C. Akdemir, Serkan Erdin, Jill V. Hunter, Richard A. Gibbs, Davut Pehlivan, Jennifer E. Posey, James R. Lupski
Published 2020-05-01

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

by 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
Published 2016-11-01