Multiple Hits during Early Embryonic Development: Digenic Diseases and Holoprosencephaly

Por Ming, Jeffrey E., Muenke, Maximilian
Publicado em 2002

Molecular Analysis of the Noggin (NOG) Gene in Holoprosencephaly Patients

Por Srivastava, Kshitij, Hu, Ping, Solomon, Benjamin D., Ming, Jeffrey E., Roessler, Erich, Muenke, Maximilian
Publicado em 2012

Dominant Paternal Transmission of Cornelia de Lange Syndrome: A New Case and Review of 25 Previously Reported Familial Recurrences

Por Russell, Karen L., Ming, Jeffrey E., Patel, Ketan, Jukofsky, Lori, Magnusson, Mark, Krantz, Ian D.
Publicado no Am J Med Genet (2001)

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features

Por Roessler, Erich, Du, Yang-Zhu, Mullor, Jose L., Casas, Esther, Allen, William P., Gillessen-Kaesbach, Gabriele, Roeder, Elizabeth R., Ming, Jeffrey E., Altaba, Ariel Ruiz i, Muenke, Maximilian
Publicado em 2003

Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development

Por Van Laarhoven, Peter M., Neitzel, Leif R., Quintana, Anita M, Geiger, Elizabeth A., Zackai, Elaine H., Clouthier, David E., Artinger, Kristin B., Ming, Jeffrey E., Shaikh, Tamim H.
Publicado no Hum Mol Genet (2015)

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

Por Ballif, Blake C, Theisen, Aaron, Coppinger, Justine, Gowans, Gordon C, Hersh, Joseph H, Madan-Khetarpal, Suneeta, Schmidt, Karen R, Tervo, Raymond, Escobar, Luis F, Friedrich, Christopher A, McDonald, Marie, Campbell, Lindsey, Ming, Jeffrey E, Zackai, Elaine H, Bejjani, Bassem A, Shaffer, Lisa G
Publicado em 2008

A Quantitative Systems Pharmacology Platform to Investigate the Impact of Alirocumab and Cholesterol-Lowering Therapies on Lipid Profiles and Plaque Characteristics

Por Ming, Jeffrey E, Abrams, Ruth E, Bartlett, Derek W, Tao, Mengdi, Nguyen, Tu, Surks, Howard, Kudrycki, Katherine, Kadambi, Ananth, Friedrich, Christina M, Djebli, Nassim, Goebel, Britta, Koszycki, Alex, Varshnaya, Meera, Elassal, Joseph, Banerjee, Poulabi, Sasiela, William J, Reed, Michael J, Barrett, Jeffrey S, Azer, Karim
Publicado no Gene Regul Syst Bio (2017)

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

Por Hannibal, Mark C., Buckingham, Kati J., Ng, Sarah B., Ming, Jeffrey E., Beck, Anita E., McMillin, Margaret J., Gildersleeve, Heidi I., Bigham, Abigail W., Tabor, Holly K., Mefford, Heather C., Cook, Joseph, Yoshiura, Koh-ichiro, Matsumoto, Tadashi, Matsumoto, Naomichi, Miyake, Noriko, Tonoki, Hidefumi, Naritomi, Kenji, Kaname, Tadashi, Nagai, Toshiro, Ohashi, Hirofumi, Kurosawa, Kenji, Hou, Jia-Wei, Ohta, Tohru, Liang, Deshung, Sudo, Akira, Morris, Colleen A., Banka, Siddharth, Black, Graeme C., Clayton-Smith, Jill, Nickerson, Deborah A., Zackai, Elaine H., Shaikh, Tamim H., Donnai, Dian, Niikawa, Norio, Shendure, Jay, Bamshad, Michael J.
Publicado em 2011