Plummer, Lacey

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

Falardeau, J., Chung, W. C. J., Beenken, A., Raivio, T., Plummer, L., Sidis, Y., Jacobson-Dickman, E. E., Eliseenkova, A. V., Ma, J., Dwyer, A., et al. (2008) · Journal of Clinical Investigation

Hypothalamic control of reproductive hormonesGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 397

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

Pitteloud, N., Quinton, R., Pearce, S., Raivio, T., Acierno, J., Dwyer, A., Plummer, L., Hughes, V., Seminara, S., Cheng, Y.-Z., et al. (2007) · Journal of Clinical Investigation

Hypothalamic control of reproductive hormonesSexual Differentiation and Disorders

Cited by 379

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism

Miraoui, H., Dwyer, A. A., Sykiotis, G. P., Plummer, L., Chung, W., Feng, B., Beenken, A., Clarke, J., Pers, T. H., Dworzynski, P., et al. (2013) · The American Journal of Human Genetics

Hypothalamic control of reproductive hormonesGenomics and Rare Diseases

Cited by 267

Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

Pitteloud, N., Zhang, C., Pignatelli, D., Li, J.-D., Raivio, T., Cole, L. W., Plummer, L., Jacobson-Dickman, E. E., Mellon, P. L., Zhou, Q.-Y., et al. (2007) · Proceedings of the National Academy of Sciences

Hypothalamic control of reproductive hormonesOlfactory and Sensory Function Studies

Cited by 264

A genetic basis for functional hypothalamic amenorrhea

Caronia, L. M., Martin, C., Welt, C. K., Sykiotis, G. P., Quinton, R., Thambundit, A., Avbelj, M., Dhruvakumar, S., Plummer, L., Hughes, V. A., et al. (2011) · New England Journal of Medicine

Hypothalamic control of reproductive hormonesPituitary Gland Disorders and Treatments

Cited by 256

Mutations in Prokineticin 2 and Prokineticin receptor 2 genes in Human Gonadotrophin-Releasing Hormone Deficiency: Molecular Genetics and Clinical Spectrum

Cole, L. W., Sidis, Y., Zhang, C., Quinton, R., Plummer, L., Pignatelli, D., Hughes, V. A., Dwyer, A. A., Raivio, T., Hayes, F. J., et al. (2008) · The Journal of Clinical Endocrinology & Metabolism

Hypothalamic control of reproductive hormonesOlfactory and Sensory Function Studies

Cited by 208

Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes

Pitteloud, N., Meysing, A., Quinton, R., Acierno, J. S., Dwyer, A. A., Plummer, L., Fliers, E., Boepple, P., Hayes, F., Seminara, S., et al. (2006) · Molecular and Cellular Endocrinology

Hypothalamic control of reproductive hormonesGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 198

Heparan sulfate 6-O-sulfotransferase 1 , a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism

Tornberg, J., Sykiotis, G. P., Keefe, K., Plummer, L., Hoang, X., Hall, J. E., Quinton, R., Seminara, S. B., Hughes, V., Van Vliet, G., et al. (2011) · Proceedings of the National Academy of Sciences

Hypothalamic control of reproductive hormonesProteoglycans and glycosaminoglycans research

Cited by 177

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

Balasubramanian, R., Choi, J.-H., Francescatto, L., Willer, J., Horton, E. R., Asimacopoulos, E. P., Stankovic, K. M., Plummer, L., Buck, C. L., Quinton, R., et al. (2014) · Proceedings of the National Academy of Sciences

Hypothalamic control of reproductive hormonesCongenital Ear and Nasal Anomalies

Cited by 83

GnRH-Deficient Phenotypes in Humans and Mice with Heterozygous Variants in KISS1/Kiss1

Chan, Y.-M., Broder-Fingert, S., Paraschos, S., Lapatto, R., Au, M., Hughes, V., Bianco, S. D. C., Min, L., Plummer, L., Cerrato, F., et al. (2011) · The Journal of Clinical Endocrinology & Metabolism

Hypothalamic control of reproductive hormonesSexual Differentiation and Disorders

Cited by 68

The long-term clinical follow-up and natural history of men with adult-onset idiopathic hypogonadotropic hypogonadism

Dwyer, A. A., Hayes, F. J., Plummer, L., Pitteloud, N., & Crowley, W. F. (2010) · The Journal of Clinical Endocrinology & Metabolism

Hypothalamic control of reproductive hormonesPituitary Gland Disorders and Treatments

Cited by 58

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

Gianetti, E., Hall, J. E., Au, M. G., Kaiser, U. B., Quinton, R., Stewart, J. A., Metzger, D. L., Pitteloud, N., Mericq, V., Merino, P. M., et al. (2012) · The Journal of Clinical Endocrinology & Metabolism

Hypothalamic control of reproductive hormonesSexual Differentiation and Disorders

Cited by 53

Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History

Dwyer, A. A., Chavan, N. R., Lewkowitz-Shpuntoff, H., Plummer, L., Hayes, F. J., Seminara, S. B., Crowley, W. F., Pitteloud, N., & Balasubramanian, R. (2019) · The Journal of Clinical Endocrinology & Metabolism

Hypothalamic control of reproductive hormonesHormonal and reproductive studies

Cited by 41

Exogenous kisspeptin administration as a probe of GnRH neuronal function in patients with idiopathic hypogonadotropic hypogonadism

Chan, Y.-M., Lippincott, M. F., Butler, J. P., Sidhoum, V. F., Li, C. X., Plummer, L., & Seminara, S. B. (2014) · The Journal of Clinical Endocrinology & Metabolism

Hypothalamic control of reproductive hormonesGrowth Hormone and Insulin-like Growth Factors

Cited by 39