Not logged in Dermoscopic Features of Melanocytic Nevi in Cardiofaciocutaneous and Costello Syndromes Vaughn, Alexandra R.; Meyer, Summer N.; Nazir, Zaeem H.; Tavernetti, Jennifer; Simmons, Elanee; Li, Hong; Rybak, Irina; Rauen, Katherine A.; Marghoob, Ashfaq A.; Kiuru, Maija Share Save
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A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder (vol 24, pg 1567, 2022) Shankar, Suma P.; Grimsrud, Kristin; Lanoue, Louise; Egense, Alena; Willis, Brandon; Horberg, Johanna; Al Abdi, Lama; Mayer, Klaus; Utkur, Koray; Monaghan, Kristin G.; Krier, Joel; Stoler, Joan; Alnemer, Maha; Shankar, Prabhu R.; Schaffrath, Raffael; Alkuraya, Fowzan S.; Brinkmann, Ulrich; Eriksson, Leif A.; Lloyd, Kent; Rauen, Katherine A. Share Save
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
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder Shankar, Suma P.; Grimsrud, Kristin; Lanoue, Louise; Egense, Alena; Willis, Brandon; Horberg, Johanna; AlAbdi, Lama; Mayer, Klaus; Utkur, Koray; Monaghan, Kristin G.; Krier, Joel; Stoler, Joan; Alnemer, Maha; Shankar, Prabhu R.; Schaffrath, Raffael; Alkuraya, Fowzan S.; Brinkmann, Ulrich; Eriksson, Leif A.; Lloyd, Kent; Rauen, Katherine A. Share Save
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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
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care Dimmock, David; Caylor, Sara; Waldman, Bryce; Benson, Wendy; Ashburner, Christina; Carmichael, Jason L.; Carroll, Jeanne; Cham, Elaine; Chowdhury, Shimul; Cleary, John; D'Harlingue, Arthur; Doshi, A.; Ellsworth, Katarzyna; Galarreta, Carolina, I; Hobbs, Charlotte; Houtchens, Kathleen; Hunt, Juliette; Joe, Priscilla; Joseph, Maries; Kaplan, Robert H.; Kingsmore, Stephen F.; Knight, Jason; Kochhar, Aaina; Kronick, Richard G.; Limon, Jolie; Martin, Madelena; Rauen, Katherine A.; Schwarz, Adam; Shankar, Suma P.; Spicer, Rosanna; Rojas, Mario Augusto; Vargas-Shiraishi, Ofelia; Wigby, Kristen; Zadeh, Neda; Farnaes, Lauge Share Save
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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
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation Gelb, Bruce D.; Cave, Helene; Dillon, Mitchell W.; Gripp, Karen W.; Lee, Jennifer A.; Mason-Suares, Heather; Rauen, Katherine A.; Williams, Bradley; Zenker, Martin; Vincent, Lisa M. Share Save
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework Grant, Andrew R.; Cushman, Brandon J.; Cave, Helene; Dillon, Mitchell W.; Gelb, Bruce D.; Gripp, Karen W.; Lee, Jennifer A.; Mason-Suares, Heather; Rauen, Katherine A.; Tartaglia, Marco; Vincent, Lisa M.; Zenker, Martin Share Save
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