Genetic Changes Associated with Testicular Cancer Susceptibility

Autor Pyle, Louise C., Nathanson, Katherine L.
Vydáno v Semin Oncol (2016)

A Practical Guide for Evaluating Gonadal Germ Cell Tumor Predisposition in Differences of Sex Development

Autor Pyle, Louise C., Nathanson, Katherine L.
Vydáno v Am J Med Genet C Semin Med Genet (2017)

Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency

Autor Ahrens-Nicklas, Rebecca C., Pyle, Louise C., Ficicioglu, Can
Vydáno v Genet Med (2016)

Severe Hyperammonemia in a Neonate: An Alternate Ending

Autor Sheppard, Sarah, Herrick, Heidi, Ahrens-Nicklas, Rebecca C., Cohen, Jennifer L., Flibbotte, John, Pyle, Louise C.
Vydáno v Neoreviews (2019)

Activation of the Cystic Fibrosis Transmembrane Conductance Regulator by the Flavonoid Quercetin: Potential Use as a Biomarker of ΔF508 Cystic Fibrosis Transmembrane Conductance Re...

Autor Pyle, Louise C., Fulton, Jennifer C., Sloane, Peter A., Backer, Kyle, Mazur, Marina, Prasain, Jeevan, Barnes, Stephen, Clancy, J. P., Rowe, Steven M.
Vydáno 2010

De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies

Autor Pinz, Hailey, Pyle, Louise C., Li, Dong, Izumi, Kosuke, Skraban, Cara, Tarpinian, Jennifer, Braddock, Stephen R., Telegrafi, Aida, Monaghan, Kristin G., Zackai, Elaine, Bhoj, Elizabeth J.
Vydáno v Am J Med Genet A (2018)

Regulatory domain phosphorylation to distinguish the mechanistic basis underlying acute CFTR modulators

Autor Pyle, Louise C., Ehrhardt, Annette, Mitchell, Lisa High, Fan, LiJuan, Ren, Aixia, Naren, Anjaparavanda P., Li, Yao, Clancy, J. P., Bolger, Graeme B., Sorscher, Eric J., Rowe, Steven M.
Vydáno 2011

Ovotestis in Adolescence: Two Case Reports

Autor Chouhan, Jyoti D., Chu, David I., Birs, Antoinette, Pyle, Louise C., Van Batavia, Jason P., Linn, Rebecca L., Back, Susan J., Russo, Pierre, Darge, Kassa, Kolon, Thomas F., Srinivasan, Arun K.
Vydáno v Urology (2017)

Channel Gating Regulation by the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) First Cytosolic Loop

Autor Ehrhardt, Annette, Chung, W. Joon, Pyle, Louise C., Wang, Wei, Nowotarski, Krzysztof, Mulvihill, Cory M., Ramjeesingh, Mohabir, Hong, Jeong, Velu, Sadanandan E., Lewis, Hal A., Atwell, Shane, Aller, Steve, Bear, Christine E., Lukacs, Gergely L., Kirk, Kevin L., Sorscher, Eric J.
Vydáno v J Biol Chem (2016)

Lack of Pathogenic Germline DICER1 Variants in Males with Testicular Germ-Cell Tumors

Autor Vasta, Lauren M., McMaster, Mary L., Harney, Laura A., Ling, Alexander, Kim, Jung, Harris, Anne K., Carr, Ann G., Damrauer, Scott M., Rader, Daniel J., Kember, Rachel L., Kanetsky, Peter A., Nathanson, Katherine L., Pyle, Louise C., Greene, Mark H., Schultz, Kris Ann, Stewart, Douglas R.
Vydáno v Cancer Genet (2020)

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

Autor 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.
Vydáno v Nat Genet (2017)

Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors

Autor AlDubayan, Saud H., Pyle, Louise C., Gamulin, Marija, Kulis, Tomislav, Moore, Nathanael D., Taylor-Weiner, Amaro, Hamid, Anis A., Reardon, Brendan, Wubbenhorst, Bradley, Godse, Rama, Vaughn, David J., Jacobs, Linda A., Meien, Stefanie, Grgic, Mislav, Kastelan, Zeljko, Markt, Sarah C., Damrauer, Scott M., Rader, Daniel J., Kember, Rachel L., Loud, Jennifer T., Kanetsky, Peter A., Greene, Mark H., Sweeney, Christopher J., Kubisch, Christian, Nathanson, Katherine L., Van Allen, Eliezer M., Stewart, Douglas R., Lessel, Davor
Vydáno v JAMA Oncol (2019)

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

Autor 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
Vydáno v PLoS Genet (2019)

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

Autor Hughes, Joel J., Alkhunaizi, Ebba, Kruszka, Paul, Pyle, Louise C., Grange, Dorothy K., Berger, Seth I., Payne, Katelyn K., Masser-Frye, Diane, Hu, Tommy, Christie, Michelle R., Clegg, Nancy J., Everson, Joshua L., Martinez, Ariel F., Walsh, Laurence E., Bedoukian, Emma, Jones, Marilyn C., Harris, Catharine Jean, Riedhammer, Korbinian M., Choukair, Daniela, Fechner, Patricia Y., Rutter, Meilan M., Hufnagel, Sophia B., Roifman, Maian, Kletter, Gad B., Delot, Emmanuele, Vilain, Eric, Lipinski, Robert J., Vezina, Chad M., Muenke, Maximilian, Chitayat, David
Vydáno v Am J Hum Genet (2020)

A rare TP53 mutation predominant in Ashkenazi Jews confers risk of multiple cancers

Autor Powers, Jacquelyn, Pinto, Emilia M., Barnoud, Thibaut, Leung, Jessica C., Martynyuk, Tetyana, Kossenkov, Andrew V., Philips, Aaron H., Desai, Heena, Hausler, Ryan, Kelly, Gregory, Le, Anh N., Li, Marilyn M., MacFarland, Suzanne P., Pyle, Louise C., Zelley, Kristin, Nathanson, Katherine L., Domchek, Susan M., Slavin, Thomas P., Weitzel, Jeffrey N., Stopfer, Jill E., Garber, Judy E., Joseph, Vijai, Offit, Kenneth, Dolinsky, Jill S., Gutierrez, Stephanie, McGoldrick, Kelly, Couch, Fergus J., Levin, Brooke, Edelman, Morris C., Levy, Carolyn Fein, Spunt, Sheri L., Kriwacki, Richard W., Zambetti, Gerard P., Ribeiro, Raul C., Murphy, Maureen E., Maxwell, Kara N.
Vydáno v Cancer Res (2020)

Integrated Molecular Characterization of Testicular Germ Cell Tumors

Autor 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.
Vydáno v Cell Rep (2018)

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

Autor Huang, Lijia, Vanstone, Megan R., Hartley, Taila, Osmond, Matthew, Barrowman, Nick, Allanson, Judith, Baker, Laura, Dabir, Tabib A., Dipple, Katrina M., Dobyns, William B., Estrella, Jane, Faghfoury, Hanna, Favaro, Francine P., Goel, Himanshu, Gregersen, Pernille A., Gripp, Karen W., Grix, Art, Guion-Almeida, Maria-Leine, Harr, Margaret H., Hudson, Cindy, Hunter, Alasdair G.W., Johnson, John, Joss, Shelagh K., Kimball, Amy, Kini, Usha, Kline, Antonie D., Lauzon, Julie, Lildballe, Dorte L., López-González, Vanesa, Martinezmoles, Johanna, Meldrum, Cliff, Mirzaa, Ghayda M., Morel, Chantal F., Morton, Jenny E.V., Pyle, Louise C., Quintero-Rivera, Fabiola, Richer, Julie, Scheuerle, Angela E., Schönewolf-Greulich, Bitten, Shears, Deborah J., Silver, Josh, Smith, Amanda C., Temple, I. Karen, van de Kamp, Jiddeke M., van Dijk, Fleur S., Vandersteen, Anthony M., White, Sue M., Zackai, Elaine H., Zou, Ruobing, Bulman, Dennis E., Boycott, Kym M., Lines, Matthew A.
Vydáno v Hum Mutat (2015)

Identification of 22 susceptibility loci associated with testicular germ cell tumors

Autor 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.
Vydáno v Nat Commun (2021)