KMT2C/D COMPASS complex-associated diseases [K(CD)COM-ADs]: an emerging class of congenital regulopathies

由 Lavery, William J., Barski, Artem, Wiley, Susan, Schorry, Elizabeth K., Lindsley, Andrew W.
發表在 Clin Epigenetics (2020)

Substantial Pain Burden in Frequency, Intensity, Interference and Chronicity among Children and Adults with Neurofibromatosis Type 1 Pain and NF1

由 Kongkriangkai, Alanna M., King, Christopher, Martin, Lisa J., Wakefield, Emily, Prada, Carlos E., Kelly-Mancuso, Geraldine, Schorry, Elizabeth K.
發表在 Am J Med Genet A (2019)

Patient-reported outcomes in neurofibromatosis and schwannomatosis clinical trials

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

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

由 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.
出版 2007

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

由 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
發表在 Clin Cancer Res (2010)

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

由 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.
出版 1989

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

由 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
出版 2009

Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1

由 Payne, Jonathan M., Hearps, Stephen J. C., Walsh, Karin S., Paltin, Iris, Barton, Belinda, Ullrich, Nicole J., Haebich, Kristina M., Coghill, David, Gioia, Gerard A., Cantor, Alan, Cutter, Gary, Tonsgard, James H., Viskochil, David, Rey‐Casserly, Celiane, Schorry, Elizabeth K., Ackerson, Joseph D., Klesse, Laura, Fisher, Michael J., Gutmann, David H., Rosser, Tena, Packer, Roger J., Korf, Bruce, Acosta, Maria T., North, Kathryn N.
發表在 Ann Clin Transl Neurol (2019)

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

由 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.
發表在 Nat Genet (2015)

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

由 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.
出版 2014

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

由 Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D., Aylsworth, Arthur S., Azizi, Amedeo A., Basel, Donald G., Bellus, Gary, Bird, Lynne M., Blazo, Maria A., Burke, Leah W., Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C., Dills, Shelley K., Dosa, Laura, Greenwood, Robert S., Griffis, Cristin, Gupta, Punita, Hachen, Rachel K., Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J., Jordan, Justin T., Kannu, Peter, Korf, Bruce R., Lewis, Andrea M., Listernick, Robert H., Lonardo, Fortunato, Mahoney, Maurice J., Ojeda, Mayra Martinez, McDonald, Marie T., McDougall, Carey, Mendelsohn, Nancy, Miller, David T., Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A., Randolph, Linda M., Rauen, Katherine A., Rednam, Surya, Rutledge, S. Lane, Saletti, Veronica, Schaefer, G. Bradley, Schorry, Elizabeth K., Scott, Daryl A., Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J., Syed, Ashraf, Trapane, Pamela L., Ullrich, Nicole J., Wakefield, Emily G., Walsh, Laurence E., Wangler, Michael F., Zackai, Elaine, Claes, Kathleen B. M., Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M.
發表在 Genet Med (2018)

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

由 Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D., Aylsworth, Arthur S., Azizi, Amedeo A., Basel, Donald G., Bellus, Gary, Bird, Lynne M., Blazo, Maria A., Burke, Leah W., Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C., Dills, Shelley K., Dosa, Laura, Greenwood, Robert S., Griffis, Cristin, Gupta, Punita, Hachen, Rachel K., Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J., Jordan, Justin T., Kannu, Peter, Korf, Bruce R., Lewis, Andrea M., Listernick, Robert H., Lonardo, Fortunato, Mahoney, Maurice J., Ojeda, Mayra Martinez, McDonald, Marie T., McDougall, Carey, Mendelsohn, Nancy, Miller, David T., Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A., Randolph, Linda M., Rauen, Katherine A., Rednam, Surya, Rutledge, S. Lane, Saletti, Veronica, Schaefer, G. Bradley, Schorry, Elizabeth K., Scott, Daryl A., Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J., Syed, Ashraf, Trapane, Pamela L., Ullrich, Nicole J., Wakefield, Emily G., Walsh, Laurence E., Wangler, Michael F., Zackai, Elaine, Claes, Kathleen B. M., Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M.
發表在 Genet Med (2018)