Discordance in the Dependence on Kisspeptin Signaling in Mini Puberty vs Adolescent Puberty: Human Genetic Evidence

od Shahab, Muhammad, Lippincott, Margaret, Chan, Yee-Ming, Davies, Addie, Merino, Paulina M, Plummer, Lacey, Mericq, Veronica, Seminara, Stephanie
Izdano u J Clin Endocrinol Metab (2018)

Expanding the Phenotype and Genotype of Female GnRH Deficiency

od Shaw, Natalie D., Seminara, Stephanie B., Welt, Corrine K., Au, Margaret G., Plummer, Lacey, Hughes, Virginia A., Dwyer, Andrew A., Martin, Kathryn A., Quinton, Richard, Mericq, Veronica, Merino, Paulina M., Gusella, James F., Crowley, William F., Pitteloud, Nelly, Hall, Janet E.
Izdano 2011

Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea

od Delaney, Angela, Burkholder, Adam B, Lavender, Christopher A, Plummer, Lacey, Mericq, Veronica, Merino, Paulina M, Quinton, Richard, Lewis, Katie L, Meader, Brooke N, Albano, Alessandro, Shaw, Natalie D, Welt, Corrine K, Martin, Kathryn A, Seminara, Stephanie B, Biesecker, Leslie G, Bailey-Wilson, Joan E, Hall, Janet E
Izdano u J Clin Endocrinol Metab (2020)

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

od 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.
Izdano u Proc Natl Acad Sci U S A (2014)

When Genetic Load Does Not Correlate with Phenotypic Spectrum: Lessons from the GnRH Receptor (GNRHR)

od Gianetti, Elena, Hall, Janet E., Au, Margaret G., Kaiser, Ursula B., Quinton, Richard, Stewart, Jane A., Metzger, Daniel L., Pitteloud, Nelly, Mericq, Veronica, Merino, Paulina M., Levitsky, Lynne L., Izatt, Louise, Lang-Muritano, Mariarosaria, Fujimoto, Victor Y., Dluhy, Robert G., Chase, Matthew L., Crowley, William F., Plummer, Lacey, Seminara, Stephanie B.
Izdano 2012