The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay

Authors: Lippincott, Margaret F., Xu, Wanxue, Smith, Abigail A., Miao, Xinyu, Lafont, Agathe, Shennib, Omar, Farley, Gordon J., Sabbagh, Riwa, Delaney, Angela, Stamou, Maria, Plummer, Lacey, Salnikov, Kathryn, Georgopoulos, Neoklis A., Mericq, Veronica, Quinton, Richard, Mau-Them, Frederic Tran, Nambot, Sophie, Hamad, Asma, Brittain, Helen, Tooze, Rebecca S., Calpena, Eduardo, Wilkie, Andrew O.M., Willems, Marjolaine, Crowley, William F., Balasubramanian, Ravikumar, Lamarche-Vane, Nathalie, Davis, Erica E., Seminara, Stephanie B.

Source: In Genetics in Medicine December 2022 24(12):2501-2515

Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism

Authors: Stamou, Maria I, Brand, Harrison, Wang, Mei, Wong, Isaac, Lippincott, Margaret F, Plummer, Lacey, Crowley, William F, Talkowski, Michael, Seminara, Stephanie, Balasubramanian, Ravikumar

Source: Journal of clinical endocrinology & metabolism. 107(8):2228-2242

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100164794001.0x000001&indx=1&recIds=ETOCvdc_100164794001.0x000001

Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants

Authors: Rojas, Rebecca A., Kutateladze, Anna A., Plummer, Lacey, Stamou, Maria, Keefe, David L., Jr, Salnikov, Kathryn B., Delaney, Angela, Hall, Janet E., Sadreyev, Ruslan, Ji, Fei, Fliers, Eric, Gambosova, Katarina, Quinton, Richard, Merino, Paulina M., Mericq, Veronica, Seminara, Stephanie B., Crowley, William F., Jr, Balasubramanian, Ravikumar

Source: In Genetics in Medicine April 2021 23(4):629-636

DLG2 variants in patients with pubertal disorders

Authors: Jee, Youn Hee, Won, Sehoon, Lui, Julian C., Jennings, Melissa, Whalen, Philip, Yue, Shanna, Temnycky, Adrian G., Barnes, Kevin M., Cheetham, Tim, Boden, Matthew G., Radovick, Sally, Quinton, Richard, Leschek, Ellen W., Aguilera, Greti, Yanovski, Jack A., Seminara, Stephanie B., Crowley, William F., Delaney, Angela, Roche, Katherine W., Baron, Jeffrey

Source: In Genetics in Medicine August 2020 22(8):1329-1337

Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose

Authors: Delaney, Angela, Volochayev, Rita, Meader, Brooke, Lee, Janice, Almpani, Konstantinia, Noukelak, Germaine Y, Henkind, Jennifer, Chalmers, Laura, Law, Jennifer R, Williamson, Kathleen A, Jacobsen, Christina M, Buitrago, Tatiana Pineda, Perez, Orlando, Cho, Chie-Hee, Kaindl, Angela, Rauch, Anita, Steindl, Katharina, Garcia, Jose Elias, Russell, Bianca E, Prasad, Rameshwar, Mondal, Uttam K, Reigstad, Hallvard M, Clements, Scott, Kim, Susan, Inoue, Kaoru, Arora, Gazal, Salnikov, Kathryn B, DiOrio, Nicole P, Prada, Rolando, Capri, Yline, Morioka, Kosuke, Mizota, Michiyo, Zechi-Ceide, Roseli M, Kokitsu-Nakata, Nancy M, Tonello, Cristiano, Vendramini-Pittoli, Siulan, da Silva Dalben, Gisele, Balasubramanian, Ravikumar, Dwyer, Andrew A, Seminara, Stephanie B, Crowley, William F, Plummer, Lacey, Hall, Janet E, Graham, John M, Lin, Angela E, Shaw, Natalie D

Source: Journal of clinical endocrinology & metabolism. 105(5):1538-1551

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100114470725.0x000001&indx=1&recIds=ETOCvdc_100114470725.0x000001

Increased Hypothalamic GPR54 Signaling: A Potential Mechanism for Initiation of Puberty in Primates

Authors: Shahab, Muhammad, Mastronardi, Claudio, Seminara, Stephanie B., Crowley, William F., Ojeda, Sergio R., Plant, Tony M., Grumbach, Melvin M.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2005 Feb 01. 102(6), 2129-2134.

Access URL: https://www.jstor.org/stable/3374573

A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator

Authors: Stamou, Maria, Ng, Shi-Yan, Brand, Harrison, Wang, Harold, Plummer, Lacey, Best, Lyle, Havlicek, Steven, Hibberd, Martin, Khor, Chiea Chuen, Gusella, James, Balasubramanian, Ravikumar, Talkowski, Michael, Stanton, Lawrence W, Crowley, William F

Source: Journal of clinical endocrinology & metabolism. 105(3):e231-e244

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100136536377.0x000001&indx=1&recIds=ETOCvdc_100136536377.0x000001

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

Authors: Dwyer, Andrew A, Chavan, Niraj R, Lewkowitz-Shpuntoff, Hilana, Plummer, Lacey, Hayes, Frances J, Seminara, Stephanie B, Crowley, William F, Pitteloud, Nelly, Balasubramanian, Ravikumar

Source: Journal of clinical endocrinology & metabolism. 104(8):3403-3414

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100094728305.0x000001&indx=1&recIds=ETOCvdc_100094728305.0x000001

Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants

Authors: Rojas, Rebecca A., Kutateladze, Anna A., Plummer, Lacey, Stamou, Maria, Keefe, David L., Jr, Salnikov, Kathryn B., Delaney, Angela, Hall, Janet E., Sadreyev, Ruslan, Ji, Fei, Fliers, Eric, Gambosova, Katarina, Quinton, Richard, Merino, Paulina M., Mericq, Veronica, Seminara, Stephanie B., Crowley, William F., Jr, Balasubramanian, Ravikumar

Source: In Genetics in Medicine June 2023 25(6)

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

Authors: 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., Tassan, Nada Al, Katsanis, Nicholas, Crowley, William F.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2014 Dec . 111(50), 17953-17958.

Access URL: https://www.jstor.org/stable/43278814

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism

Authors: Miraoui, Hichem, Dwyer, Andrew A., Sykiotis, Gerasimos P., Plummer, Lacey, Chung, Wilson, Feng, Bihua, Beenken, Andrew, Clarke, Jeff, Pers, Tune H., Dworzynski, Piotr, Keefe, Kimberley, Niedziela, Marek, Raivio, Taneli, Crowley, William F., Jr., Seminara, Stephanie B., Quinton, Richard, Hughes, Virginia A., Kumanov, Philip, Young, Jacques, Yialamas, Maria A., Hall, Janet E., Van Vliet, Guy, Chanoine, Jean-Pierre, Rubenstein, John, Mohammadi, Moosa, Tsai, Pei-San, Sidis, Yisrael, Lage, Kasper, Pitteloud, Nelly

Source: In The American Journal of Human Genetics 2 May 2013 92(5):725-743

Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the '-Omics' Era

Authors: Stamou, M. I., Cox, K. H., Crowley, William F.

Source: Endocrine reviews. 36(6):603-621

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN603957203&indx=1&recIds=ETOCRN603957203

A Stepwise Approach to a Career in Translational Research

Authors: Crowley, William F

Source: Clinical and Translational Science : Principles of Human Research. 2017, p649-655.

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

Authors: Tornberg, Janne, Sykiotis, Gerasimos P., Keefe, Kimberly, Plummer, Lacey, Hoang, Xuan, Hall, Janet E., Quinton, Richard, Seminara, Stephanie B., Hughes, Virginia, Van Vliet, Guy, Van Uum, Stan, Crowley, William F., Habuchi, Hiroko, Kimata, Koji, Pitteloud, Nelly, Bülow, Hannes E.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2011 Jul 01. 108(28), 11524-11529.

Access URL: https://www.jstor.org/stable/27978833

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

Authors: Sykiotis, Gerasimos P., Plummer, Lacey, Hughes, Virginia A., Au, Margaret, Durrani, Sadia, Nayak-Young, Sadhana, Dwyer, Andrew A., Quinton, Richard, Hall, Janet E., Gusella, James F., Seminara, Stephanie B., Crowley, William F., Pitteloud, Nelly, Donahoe, Patricia K.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2010 Aug . 107(34), 15140-15144.

Access URL: https://www.jstor.org/stable/27862207

GNRH1 Mutations in Patients with Idiopathic Hypogonadotropic Hypogonadism

Authors: Chan, Yee-Ming, de Guillebon, Adelaide, Lang-Muritano, Mariarosaria, Plummer, Lacey, Cerrato, Felecia, Tsiaras, Sarah, Gaspert, Ariana, Lavoie, Hélène B., Wu, Ching-Hui, Crowley,, William F., Amory, John K., Pitteloud, Nelly, Seminara, Stephanie B., Donahoe, Patricia K.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2009 Jul . 106(28), 11703-11708.

Access URL: https://www.jstor.org/stable/40484014

Isolated GnRH deficiency: A disease model serving as a unique prism into the systems biology of the GnRH neuronal network

Authors: Balasubramanian, Ravikumar, Crowley, William F., Jr.

Source: In Molecular and Cellular Endocrinology 2011 346(1):4-12

Genetic counseling for isolated GnRH deficiency

Authors: Au, Margaret G., Crowley, William F., Jr., Buck, Cassandra L.

Source: In Molecular and Cellular Endocrinology 2011 346(1):102-109

The puzzles of the prokineticin 2 pathway in human reproduction

Authors: Balasubramanian, Ravikumar, Plummer, Lacey, Sidis, Yisrael, Pitteloud, Nelly, Martin, Cecilia, Zhou, Qun-Yong, Crowley, William F., Jr.

Source: In Molecular and Cellular Endocrinology 2011 346(1):44-50

Loss-of-Function Mutation in the Prokineticin 2 Gene Causes Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism

Authors: Pitteloud, Nelly, Zhang, Chengkang, Pignatelli, Duarte, Li, Jia-Da, Raivio, Taneli, Cole, Lindsay W., Plummer, Lacey, Jacobson-Dickman, Elka E., Mellon, Pamela L., Zhou, Qun-Yong, Crowley,, William F.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2007 Oct . 104(44), 17447-17452.

Access URL: https://www.jstor.org/stable/25450255