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Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation Plotkin, Scott R.; Messiaen, Ludwine; Legius, Eric; Pancza, Patrice; Avery, Robert A.; Blakeley, Jaishri O.; Babovic-Vuksanovic, Dusica; Ferner, Rosalie; Fisher, Michael J.; Friedman, Jan M.; Giovannini, Marco; Gutmann, David H.; Hanemann, Clemens Oliver; Kalamarides, Michel; Kehrer-Sawatzki, Hildegard; Korf, Bruce R.; Mautner, Victor-Felix; MacCollin, Mia; Papi, Laura; Rauen, Katherine A.; Riccardi, Vincent; Schorry, Elizabeth; Smith, Miriam J.; Stemmer-Rachamimov, Anat; Stevenson, David A.; Ullrich, Nicole J.; Viskochil, David; Wimmer, Katharina; Yohay, Kaleb; Huson, Susan M.; Wolkenstein, Pierre; Evans, D. Gareth Share Save
MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus 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. Share Save
Current Recommendations for Patient-Reported Outcome Measures Assessing Domains of Quality of Life in Neurofibromatosis Clinical Trials 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 Share Save
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation Legius, Eric; Messiaen, Ludwine; Wolkenstein, Pierre; Pancza, Patrice; Avery, Robert A.; Berman, Yemima; Blakeley, Jaishri; Babovic-Vuksanovic, Dusica; Cunha, Karin Soares; Ferner, Rosalie; Fisher, Michael J.; Friedman, Jan M.; Gutmann, David H.; Kehrer-Sawatzki, Hildegard; Korf, Bruce R.; Mautner, Victor-Felix; Peltonen, Sirkku; Rauen, Katherine A.; Riccardi, Vincent; Schorry, Elizabeth; Stemmer-Rachamimov, Anat; Stevenson, David A.; Tadini, Gianluca; Ullrich, Nicole J.; Viskochil, David; Wimmer, Katharina; Yohay, Kaleb; Huson, Susan M.; Evans, D. Gareth; Plotkin, Scott R. Share Save
Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1 Ottenhoff, Myrthe J.; Rietman, Andre B.; Mous, Sabine E.; Plasschaert, Ellen; Gawehns, Daniela; Brems, Hilde; Oostenbrink, Rianne; van Minkelen, Rick; Nellist, Mark; Schorry, Elizabeth; Legius, Eric; Moll, Henriette A.; Elgersma, Ype; de Wit, Marie-Claire Y.; de Nijs, Pieter F. A.; Legerstee, Jeroen S.; Dieleman, Gwendolyn C.; ten Hoopen, Leontine W. Share Save
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Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1 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. Share Save
Health Supervision for Children With Neurofibromatosis Type 1 Miller, David T.; Freedenberg, Debra; Schorry, Elizabeth; Ullrich, Nicole J.; Viskochil, David; Korf, Bruce R.; Chen, Emily; Trotter, Tracy L.; Berry, Susan A.; Burke, Leah W.; Geleske, Timothy A.; Hamid, Rizwan; Hopkin, Robert J.; Introne, Wendy J.; Lyons, Michael J.; Scheuerle, Angela E.; Stoler, Joan M.; Freedenberg, Debra; Jones, Marilyn C. Share Save
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 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.; Hernandez-Chico, Concepcion; 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, Sebastian; 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. Share Save
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 (vol 21, pg 764, 2019) 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.; Hernandez-Chico, Concepcion; 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, Sebastien; 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. Share Save
Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly DiStasio, Andrew; Driver, Ashley; Sund, Kristen; Donlin, Milene; Muraleedharan, Ranjith M.; Pooya, Shabnam; Kline-Fath, Beth; Kaufman, Kenneth M.; Prows, Cynthia A.; Schorry, Elizabeth; Dasgupta, Biplab; Stottmann, Rolf W. Share Save
Activity of Selumetinib in Neurofibromatosis Type 1-Related Plexiform Neurofibromas Dombi, Eva; Baldwin, Andrea; Marcus, Leigh J.; Fisher, Michael J.; Weiss, Brian; Kim, AeRang; Whitcomb, Patricia; Martin, Staci; Aschbacher-Smith, Lindsey E.; Rizvi, Tilat A.; Wu, Jianqiang; Ershler, Rachel; Wolters, Pamela; Therrien, Janet; Glod, John; Belasco, Jean B.; Schorry, Elizabeth; Brofferio, Alessandra; Starosta, Amy J.; Gillespie, Andrea; Doyle, Austin L.; Ratner, Nancy; Widemann, Brigitte C. Share Save
Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1 Payne, Jonathan M.; Barton, Belinda; Ullrich, Nicole J.; Cantor, Alan; Hearps, Stephen J. C.; Cutter, Gary; Rosser, Tena; Walsh, Karin S.; Gioia, Gerard A.; Wolters, Pamela L.; Tonsgard, James; Schorry, Elizabeth; Viskochil, David; Klesse, Laura; Fisher, Michael; Gutmann, David H.; Silva, Alcino J.; Hunter, Scott J.; Rey-Casserly, Celiane; Cantor, Nancy L.; Byars, Anna W.; Stavinoha, Peter L.; Ackerson, Joseph D.; Armstrong, Carol L.; Isenberg, Jill; O'Neil, Sharon H.; Packer, Roger J.; Korf, Bruce; Acosta, Maria T.; North, Kathryn N. Share Save
Patient-reported outcomes of pain and physical functioning in neurofibromatosis clinical trials Wolters, Pamela L.; Martin, Staci; Merker, Vanessa L.; Tonsgard, James H.; Solomon, Sondra E.; Baldwin, Andrea; Bergner, Amanda L.; Walsh, Karin; Thompson, Heather L.; Gardner, Kathy L.; Hingtgen, Cynthia M.; Schorry, Elizabeth; Dudley, William N.; Franklin, Barbara Share Save
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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary-Alice; Atkin, Joan; Babovic-Vuksanovic, Dusica; Barnett, Christopher P.; Crenshaw, Melissa; Bartholomew, Dennis W.; Basel, Lina; Bellus, Gary; Ben-Shachar, Shay; Bialer, Martin G.; Bick, David; Blumberg, Bruce; Cortes, Fanny; David, Karen L.; Destree, Anne; Duat-Rodriguez, Anna; Earl, Dawn; Escobar, Luis; Eswara, Marthanda; Ezquieta, Begona; Frayling, Ian M.; Frydman, Moshe; Gardner, Kathy; Gripp, Karen W.; Hernandez-Chico, Concepcion; Heyrman, Kurt; Ibrahim, Jennifer; Janssens, Sandra; Keena, Beth A.; Llano-Rivas, Isabel; Leppig, Kathy; McDonald, Marie; Misra, Vinod K.; Mulbury, Jennifer; Narayanan, Vinodh; Orenstein, Naama; Galvin-Parton, Patricia; Pedro, Helio; Pivnick, Eniko K.; Powell, Cynthia M.; Randolph, Linda; Raskin, Salmo; Rosell, Jordi; Rubin, Karol; Seashore, Margretta; Schaaf, Christian P.; Scheuerle, Angela; Schultz, Meredith; Schorry, Elizabeth; Schnur, Rhonda; Siqveland, Elizabeth; Tkachuk, Amanda; Tonsgard, James; Upadhyaya, Meena; Verma, Ishwar C.; Wallace, Stephanie; Williams, Charles; Zackai, Elaine; Zonana, Jonathan; Lazaro, Conxi; Claes, Kathleen; Korf, Bruce; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine Share Save
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder 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; Schuele, 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.; 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. Share Save
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