Genetic Counseling for Isolated GnRH Deficiency

Por Au, Margaret G., Crowley, William F., Buck, Cassandra L.
Publicado em 2011

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes

Por Costa-Barbosa, Flavia Amanda, Balasubramanian, Ravikumar, Keefe, Kimberly W., Shaw, Natalie D., Al-Tassan, Nada, Plummer, Lacey, Dwyer, Andrew A., Buck, Cassandra L., Choi, Jin-Ho, Seminara, Stephanie B., Quinton, Richard, Monies, Dorota, Meyer, Brian, Hall, Janet E., Pitteloud, Nelly, Crowley, William F.
Publicado em 2013

Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency

Por Choi, Jin-Ho, Balasubramanian, Ravikumar, Lee, Phil H., Shaw, Natalie D., Hall, Janet E., Plummer, Lacey, Buck, Cassandra L., Kottler, Marie-Laure, Jarzabek, Katarzyna, Wołczynski, Sławomir, Quinton, Richard, Latronico, Ana Claudia, Dode, Catherine, Ogata, Tsutomu, Kim, Hyung-Goo, Layman, Lawrence C., Gusella, James F., Crowley, William F.
Publicado no J Clin Endocrinol Metab (2015)

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

Por Balasubramanian, Ravikumar, Choi, Jin-Ho, Francescatto, Ludmila, Willer, Jason, Horton, Edward R., Asimacopoulos, Eleni P., Stankovic, Konstantina M., Plummer, Lacey, Buck, Cassandra L., Quinton, Richard, Nebesio, Todd D., Mericq, Veronica, Merino, Paulina M., Meyer, Brian F., Monies, Dorota, Gusella, James F., Al Tassan, Nada, Katsanis, Nicholas, Crowley, William F.
Publicado no Proc Natl Acad Sci U S A (2014)