Pediatric Plexiform Neurofibromas: Impact on Morbidity and Mortality in Neurofibromatosis Type 1 von Prada, Carlos E., MD, Rangwala, Fatima A., MD, Martin, Lisa J., PhD, Lovell, Anne M., MSN, CNP, Saal, Howard M., MD, Schorry, Elizabeth K., MD, Hopkin, Robert J., MD

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The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1 von Prada, Carlos E., MD, Hufnagel, Robert B., MD, PhD, Hummel, Trent R., MD, Lovell, Anne M., MSN, CNP, Hopkin, Robert J., MD, Saal, Howard M., MD, Schorry, Elizabeth K., MD

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Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options von Elefteriou, Florent, Kolanczyk, Mateusz, Schindeler, Aaron, Viskochil, David H., Hock, Janet M., Schorry, Elizabeth K., Crawford, Alvin H., Friedman, Jan M., Little, David, Peltonen, Juha, Carey, John C., Feldman, David, Yu, Xijie, Armstrong, Linlea, Birch, Patricia, Kendler, David L., Mundlos, Stefan, Yang, Feng-Chun, Agiostratidou, Gina, Hunter-Schaedle, Kim, Stevenson, David A.

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Variable expression of neurofibromatosis 1 in monozygotic twins von Rieley, Margaret B., Stevenson, David A., Viskochil, David H., Tinkle, Brad T., Martin, Lisa J., Schorry, Elizabeth K.

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A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia von Hufnagel, Sophia B., Weaver, K Nicole, Hufnagel, Robert B., Bader, Patricia I., Schorry, Elizabeth K., Hopkin, Robert J.

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KMT2C/D COMPASS complex-associated diseases [K CD COM-ADs]: an emerging class of congenital regulopathies von Lavery, William J, Barski, Artem, Wiley, Susan, Schorry, Elizabeth K, Lindsley, Andrew W

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

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MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus von de Blank, Peter M K, Gross, Andrea M, Akshintala, Srivandana, Blakeley, Jaishri O, Bollag, Gideon, Cannon, Ashley, Dombi, Eva, Fangusaro, Jason, Gelb, Bruce D, Hargrave, Darren, Kim, AeRang, Klesse, Laura J, Loh, Mignon, Martin, Staci, Moertel, Christopher, Packer, Roger, Payne, Jonathan M, Rauen, Katherine A, Rios, Jonathan J, Robison, Nathan, Schorry, Elizabeth K, Shannon, Kevin, Stevenson, David A, Stieglitz, Elliot, Ullrich, Nicole J, Walsh, Karin S, Weiss, Brian D, Wolters, Pamela L, Yohay, Kaleb, Yohe, Marielle E, Widemann, Brigitte C, Fisher, Michael J

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

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Gene Expression Analysis Identifies Potential Biomarkers of Neurofibromatosis Type 1 Including Adrenomedullin von HUMMEL, Trent R, JESSEN, Walter J, SCHORRY, Elizabeth K, RATNER, Nancy, MILLER, Shyra J, KLUWE, Lan, MAUTNER, Victor F, WALLACE, Margaret R, LAZARO, Conxi, PAGE, Grier P, WORLEY, Paul F, ARONOW, Bruce J

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Current Recommendations for Patient-Reported Outcome Measures Assessing Domains of Quality of Life in Neurofibromatosis Clinical Trials von Wolters, Pamela L., Vranceanu, Ana-Maria, Thompson, Heather L., Martin, Staci, Merker, Vanessa L., Baldwin, Andrea, Barnett, Carolina, Koetsier, Kimberley S., Hingtgen, Cynthia M., Funes, Christopher J., Tonsgard, James H., Schorry, Elizabeth K., Allen, Taryn, Smith, Taylor, Franklin, Barbara, Reeve, Stephanie

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Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case Report von Arroyo, Monica S, Fuller, Christine, Schorry, Elizabeth K, Ulm, Elizabeth, Tian, Cuixia

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Cognition, ADHD Symptoms, and Functional Impairment in Children and Adolescents With Neurofibromatosis Type 1 von Payne, Jonathan M., Haebich, Kristina M., MacKenzie, Rachel, Walsh, Karin S., Hearps, Stephen J. C., Coghill, David, Barton, Belinda, Pride, Natalie A., Ullrich, Nicole J., Tonsgard, James H., Viskochil, David, Schorry, Elizabeth K., Klesse, Laura, Fisher, Michael J., Gutmann, David H., Rosser, Tena, Packer, Roger J., Korf, Bruce, Acosta, Maria T., Bellgrove, Mark A., North, Kathryn N.

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Motor Function and Physiology in Youth With Neurofibromatosis Type 1 von Doherty, Alexander C., Huddleston, David A., Horn, Paul S., Ratner, Nancy, Simpson, Brittany N., Schorry, Elizabeth K., Aschbacher-Smith, Lindsey, Prada, Carlos E., Gilbert, Donald L.

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Substantial pain burden in frequency, intensity, interference and chronicity among children and adults with neurofibromatosis Type 1 von Kongkriangkai, Alanna M., King, Christopher, Martin, Lisa J., Wakefield, Emily, Prada, Carlos E., Kelly‐Mancuso, Geraldine, Schorry, Elizabeth K.

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Does the Presence of Dystrophic Features in Patients With Type 1 Neurofibromatosis and Spinal Deformities Increase the Risk of Surgery? von Lykissas, Marios G., Schorry, Elizabeth K., Crawford, Alvin H., Gaines, Sean, Rieley, Margaret, Jain, Viral V.

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Patient-reported outcomes in neurofibromatosis and schwannomatosis clinical trials von Wolters, Pamela L, Martin, Staci, Merker, Vanessa L, Gardner, Kathy L, Hingtgen, Cynthia M, Tonsgard, James H, Schorry, Elizabeth K, Baldwin, Andrea

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Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1 von Sites, Emily R., Smolarek, Teresa A., Martin, Lisa J., Viskochil, David H., Stevenson, David A., Ullrich, Nicole J., Messiaen, Ludwine M., Schorry, Elizabeth K.

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Neurofibromatosis Update von Crawford, Alvin H, Schorry, Elizabeth K

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Social, emotional, and behavioral functioning of children with NF1 von Noll, Robert B., Reiter-Purtill, Jennifer, Moore, Bartlett D., Schorry, Elizabeth K., Lovell, Anne M., Vannatta, Kathryn, Gerhardt, Cynthia A.

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