Differences in gonadal tissue cryopreservation practices for differences of sex development across regions in the United States

por Siebert, Aisha L., Gomez-Lobo, Veronica, Johnson, Emilie K., Nahata, Leena, Orwig, Kyle E., Pyle, Louise C., Witchel, Selma F., Finlayson, Courtney, Laronda, Monica M.
Publicado 2023

Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia

por Guzman, Herodes, Yazdani, Sahr, Harmon, Jennifer L., Chapman, Kimberly A., Vitola, Bernadette, Pyle, Louise, McKnight, Heather, Sigal, Winnie, Lord, Katherine, De Leon, Diva D., Merchant, Nadia, Ganetzky, Rebecca
Publicado 2023

The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene

por Stevens, Servi J. C., Stumpel, Constance T. R. M., Diderich, Karin E. M., van Slegtenhorst, Marjon A., Abbott, Mary‐Alice, Manning, Courtney, Balciuniene, Jorune, Pyle, Louise C., Leonard, Jacqueline, Murrell, Jill R., van de Putte, Romy, van Rooij, Iris A. L. M., Hoischen, Alexander, Lasko, Paul, Brunner, Han G.
Publicado 2021

Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor

por Wang, Zhaoming, McGlynn, Katherine A., Meyts, Ewa Rajpert-De, Bishop, D. Timothy, Chung, Charles, Dalgaard, Marlene D., Greene, Mark H., Gupta, Ramneek, Grotmol, Tom, Haugen, Trine B., Karlsson, Robert, Litchfield, Kevin, Mitra, Nandita, Nielsen, Kasper, Pyle, Louise C., Schwartz, Stephen M., Thorsson, Vésteinn, Vardhanabhuti, Saran, Wiklund, Fredrik, Turnbull, Clare, Chanock, Stephen J., Kanetsky, Peter A., Nathanson, Katherine L.
Publicado 2017

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

por Garnai, Sarah J., Brinkmeier, Michelle L., Emery, Ben, Aleman, Tomas S., Pyle, Louise C., Veleva-Rotse, Biliana, Sisk, Robert A., Rozsa, Frank W., Ozel, Ayse Bilge, Li, Jun Z., Moroi, Sayoko E., Archer, Steven M., Lin, Cheng-mao, Sheskey, Sarah, Wiinikka-Buesser, Laurel, Eadie, James, Urquhart, Jill E., Black, Graeme C.M., Othman, Mohammad I., Boehnke, Michael, Sullivan, Scot A., Skuta, Gregory L., Pawar, Hemant S., Katz, Alexander E., Huryn, Laryssa A., Hufnagel, Robert B., Camper, Sally A., Richards, Julia E., Prasov, Lev
Publicado 2019

Integrated Molecular Characterization of Testicular Germ Cell Tumors

por Shen, Hui, Shih, Juliann, Hollern, Daniel P., Wang, Linghua, Bowlby, Reanne, Tickoo, Satish K., Thorsson, Vésteinn, Mungall, Andrew J., Newton, Yulia, Hegde, Apurva M., Armenia, Joshua, Sánchez-Vega, Francisco, Pluta, John, Pyle, Louise C., Mehra, Rohit, Reuter, Victor E., Godoy, Guilherme, Jones, Jeffrey, Shelley, Carl S., Feldman, Darren R., Vidal, Daniel O., Lessel, Davor, Kulis, Tomislav, Cárcano, Flavio M., Leraas, Kristen M., Lichtenberg, Tara M., Brooks, Denise, Cherniack, Andrew D., Cho, Juok, Heiman, David I., Kasaian, Katayoon, Liu, Minwei, Noble, Michael S., Xi, Liu, Zhang, Hailei, Zhou, Wanding, ZenKlusen, Jean C., Hutter, Carolyn M., Felau, Ina, Zhang, Jiashan, Schultz, Nikolaus, Getz, Gad, Meyerson, Matthew, Stuart, Joshua M., Akbani, Rehan, Wheeler, David A., Laird, Peter W., Nathanson, Katherine L., Cortessis, Victoria K., Hoadley, Katherine A.
Publicado 2018

Identification of 22 susceptibility loci associated with testicular germ cell tumors

por Pluta, John, Pyle, Louise C., Nead, Kevin T., Wilf, Rona, Li, Mingyao, Mitra, Nandita, Weathers, Benita, D’Andrea, Kurt, Almstrup, Kristian, Anson-Cartwright, Lynn, Benitez, Javier, Brown, Christopher D., Chanock, Stephen, Chen, Chu, Cortessis, Victoria K., Ferlin, Alberto, Foresta, Carlo, Gamulin, Marija, Gietema, Jourik A., Grasso, Chiara, Greene, Mark H., Grotmol, Tom, Hamilton, Robert J., Haugen, Trine B., Hauser, Russ, Hildebrandt, Michelle A. T., Johnson, Matthew E., Karlsson, Robert, Kiemeney, Lambertus A., Lessel, Davor, Lothe, Ragnhild A., Loud, Jennifer T., Loveday, Chey, Martin-Gimeno, Paloma, Meijer, Coby, Nsengimana, Jérémie, Quinn, David I., Rafnar, Thorunn, Ramdas, Shweta, Richiardi, Lorenzo, Skotheim, Rolf I., Stefansson, Kari, Turnbull, Clare, Vaughn, David J., Wiklund, Fredrik, Wu, Xifeng, Yang, Daphne, Zheng, Tongzhang, Wells, Andrew D., Grant, Struan F. A., Rajpert-De Meyts, Ewa, Schwartz, Stephen M., Bishop, D. Timothy, McGlynn, Katherine A., Kanetsky, Peter A., Nathanson, Katherine L.
Publicado 2021