Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment

nork Finegold, David N., Baty, Catherine J., Knickelbein, Kelly Z., Perschke, Shelley, Noon, Sarah E., Campbell, Diana, Karlsson, Jenny M., Huang, Diana, Kimak, Mark A., Lawrence, Elizabeth C., Feingold, Eleanor, Meriney, Stephen D., Brufsky, Adam M., Ferrell, Robert E.
Argitaratua 2012

USP7 acts as a molecular rheostat to promote WASH-dependent endosomal protein recycling and is mutated in a human neurodevelopmental disorder

nork Hao, Yi-Heng, Fountain, Michael D., Tacer, Klementina Fon, Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Rosenfeld, Jill A., Caignec, Cédric Le, Isidor, Bertrand, Krantz, Ian D., Noon, Sarah E., Pfotenhauer, Jean P., Morgan, Thomas M., Moran, Rocio, Pedersen, Robert C., Saenz, Margarita S., Schaaf, Christian P., Potts, Patrick Ryan
Argitaratua izan da Mol Cell (2015)

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death

nork Li, Mindy H., Abrudan, Jenica L., Dulik, Matthew C., Sasson, Ariella, Brunton, Joshua, Jayaraman, Vijayakumar, Dugan, Noreen, Haley, Danielle, Rajagopalan, Ramakrishnan, Biswas, Sawona, Sarmady, Mahdi, DeChene, Elizabeth T., Deardorff, Matthew A., Wilkens, Alisha, Noon, Sarah E., Scarano, Maria I., Santani, Avni B., White, Peter S., Pennington, Jeffrey, Conlin, Laura K., Spinner, Nancy B., Krantz, Ian D., Vetter, Victoria L.
Argitaratua izan da Hum Genomics (2015)

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

nork Ji, Jianling, Lee, Hane, Argiropoulos, Bob, Dorrani, Naghmeh, Mann, John, Martinez-Agosto, Julian A, Gomez-Ospina, Natalia, Gallant, Natalie, Bernstein, Jonathan A, Hudgins, Louanne, Slattery, Leah, Isidor, Bertrand, Le Caignec, Cédric, David, Albert, Obersztyn, Ewa, Wiśniowiecka-Kowalnik, Barbara, Fox, Michelle, Deignan, Joshua L, Vilain, Eric, Hendricks, Emily, Horton Harr, Margaret, Noon, Sarah E, Jackson, Jessi R, Wilkens, Alisha, Mirzaa, Ghayda, Salamon, Noriko, Abramson, Jeff, Zackai, Elaine H, Krantz, Ian, Innes, A Micheil, Nelson, Stanley F, Grody, Wayne W, Quintero-Rivera, Fabiola
Argitaratua izan da Eur J Hum Genet (2015)

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

nork Kaiser, Frank J., Ansari, Morad, Braunholz, Diana, Concepción Gil-Rodríguez, María, Decroos, Christophe, Wilde, Jonathan J., Fincher, Christopher T., Kaur, Maninder, Bando, Masashige, Amor, David J., Atwal, Paldeep S., Bahlo, Melanie, Bowman, Christine M., Bradley, Jacquelyn J., Brunner, Han G., Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A., Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C., Francey, Lauren J., Gehlken, Ulrike, Guillén-Navarro, Encarna, Gyftodimou, Yolanda, Hall, Bryan D., Hennekam, Raoul, Hudgins, Louanne, Hullings, Melanie, Hunter, Jennifer M., Yntema, Helger, Innes, A. Micheil, Kline, Antonie D., Krumina, Zita, Lee, Hane, Leppig, Kathleen, Lynch, Sally Ann, Mallozzi, Mark B., Mannini, Linda, Mckee, Shane, Mehta, Sarju G., Micule, Ieva, Mohammed, Shehla, Moran, Ellen, Mortier, Geert R., Moser, Joe-Ann S., Noon, Sarah E., Nozaki, Naohito, Nunes, Luis, Pappas, John G., Penney, Lynette S., Pérez-Aytés, Antonio, Petersen, Michael B., Puisac, Beatriz, Revencu, Nicole, Roeder, Elizabeth, Saitta, Sulagna, Scheuerle, Angela E., Schindeler, Karen L., Siu, Victoria M., Stark, Zornitza, Strom, Samuel P., Thiese, Heidi, Vater, Inga, Willems, Patrick, Williamson, Kathleen, Wilson, Louise C., Hakonarson, Hakon, Quintero-Rivera, Fabiola, Wierzba, Jolanta, Musio, Antonio, Gillessen-Kaesbach, Gabriele, Ramos, Feliciano J., Jackson, Laird G., Shirahige, Katsuhiko, Pié, Juan, Christianson, David W., Krantz, Ian D., Fitzpatrick, David R., Deardorff, Matthew A.
Argitaratua 2014