Patient-reported outcomes in neurofibromatosis and schwannomatosis clinical trials

Por Wolters, Pamela L., Martin, Staci, Merker, Vanessa L., Gardner, Kathy L., Hingtgen, Cynthia M., Tonsgard, James H., Schorry, Elizabeth K., Baldwin, Andrea
Publicado em 2013

The Use of Anterolateral Bowing of the Lower Leg in the Diagnostic Criteria for Neurofibromatosis Type 1

Por Stevenson, David A., Viskochil, David H., Schorry, Elizabeth K., Crawford, Alvin H., D’Astous, Jacques, Murray, Kathleen A., Friedman, J. M., Armstrong, Linlea, Carey, John C.
Publicado em 2007

Gene Expression Analysis Identifies Potential Biomarkers of Neurofibromatosis Type 1 Including Adrenomedullin

Por Hummel, Trent R., Jessen, Walter J., Miller, Shyra J., Kluwe, Lan, Mautner, Victor F., Wallace, Margaret R., Lázaro, Conxi, Page, Grier P., Worley, Paul F., Aronow, Bruce J., Schorry, Elizabeth K., Ratner, Nancy
Publicado no Clin Cancer Res (2010)

A refined genetic map of the region of chromosome 17 surrounding the von recklinghausen neurofibromatosis (NF1) gene

Por Diehl, Scott R., Boehnke, Michael, Erickson, Robert P., Ploughman, Lynn M., Seiler, Kathleen A., Lieberman, Janice L., Clarke, H. Bush, Bruce, Melissa A., Schorry, Elizabeth K., Pericak-Vance, Margaret, O'Connell, Peter, Collins, Francis S.
Publicado em 1989

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

Por El-Hattab, Ayman W., Smolarek, Teresa A., Walker, Martha E., Schorry, Elizabeth K., Immken, LaDonna L., Patel, Gayle, Abbott, Mary-Alice, Lanpher, Brendan C., Ou, Zhishuo, Kang, Sung-Hae L., Patel, Ankita, Scaglia, Fernando, Lupski, James R., Cheung, Sau Wai, Stankiewicz, Pawel
Publicado em 2009

Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder

Por Abrams, Alexander J., Hufnagel, Robert B., Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A., Campeanu, Ion J., Griffin, Laurie B., Groenewald, Saskia, Strickland, Alleene V., Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M., Sund, Kristen L., Wang, Xinjian, Krueger, Laura A., Peng, Yanyan, Prada, Carlos E., Prows, Cynthia A., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdul-Rahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E.
Publicado no Nat Genet (2015)

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

Por McMillin, Margaret J., Beck, Anita E., Chong, Jessica X., Shively, Kathryn M., Buckingham, Kati J., Gildersleeve, Heidi I.S., Aracena, Mariana I., Aylsworth, Arthur S., Bitoun, Pierre, Carey, John C., Clericuzio, Carol L., Crow, Yanick J., Curry, Cynthia J., Devriendt, Koenraad, Everman, David B., Fryer, Alan, Gibson, Kate, Giovannucci Uzielli, Maria Luisa, Graham, John M., Hall, Judith G., Hecht, Jacqueline T., Heidenreich, Randall A., Hurst, Jane A., Irani, Sarosh, Krapels, Ingrid P.C., Leroy, Jules G., Mowat, David, Plant, Gordon T., Robertson, Stephen P., Schorry, Elizabeth K., Scott, Richard H., Seaver, Laurie H., Sherr, Elliott, Splitt, Miranda, Stewart, Helen, Stumpel, Constance, Temel, Sehime G., Weaver, David D., Whiteford, Margo, Williams, Marc S., Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Publicado em 2014