The Use of MEK Inhibitors in Neurofibromatosis Type 1–Associated Tumors and Management of Toxicities.
Klesse, LJ; Jordan, JT; Radtke, HB; Rosser, T; Schorry, E; Ullrich, N; Viskochil, D; Knight, P; Plotkin, SR; Yohay, K.
The Oncologist.
2020;
25:e1109-e1116.
Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1.
Ottenhoff, MJ; Rietman, AB; Mous, SE; Plasschaert, E; Gawehns, D; Brems, H; Oostenbrink, R; van Minkelen, R; Nellist, M; Schorry, E; et al.
Genetics in Medicine.
2020;
22:889-897.
KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: An emerging class of congenital regulopathies.
Lavery, WJ; Barski, A; Wiley, S; Schorry, EK; Lindsley, AW.
Clinical Epigenetics.
2020;
12.
Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1.
Payne, JM; Hearps, SJ C; Walsh, KS; Paltin, I; Barton, B; Ullrich, NJ; Haebich, KM; Coghill, D; Gioia, GA; Cantor, A; et al.
Annals of Clinical and Translational Neurology.
2019;
6:2555-2565.
Health Supervision for Children With Neurofibromatosis Type 1.
Miller, DT; Schorry, E; Ullrich, NJ; Viskochil, D; Korf, BR; Chen, E; Trotter, TL; Berry, SA; Burke, LW; Geleske, TA; et al.
Pediatrics.
2019;
143:e20190660-e20190660.
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, M; Callens, T; Gomes, A; Sharp, A; Chen, Y; Hicks, AD; Aylsworth, AS; Azizi, AA; Basel, DG; Bellus, G; et al.
Genetics in Medicine.
2019;
21:867-876.
Substantial pain burden in frequency, intensity, interference and chronicity among children and adults with neurofibromatosis Type 1.
Kongkriangkai, AM; King, C; Martin, LJ; Wakefield, E; Prada, CE; Kelly-Mancuso, G; Schorry, EK.
American Journal of Medical Genetics, Part A.
2019;
179:602-607.
2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis.
Fisher, MJ; Belzberg, AJ; de Blank, P; De Raedt, T; Elefteriou, F; Ferner, RE; Giovannini, M; Harris, GJ; Kalamarides, M; Karajannis, MA; et al.
American Journal of Medical Genetics, Part A.
2018;
176:1258-1269.
Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly.
DiStasio, A; Driver, A; Sund, K; Donlin, M; Muraleedharan, RM; Pooya, S; Kline-Fath, B; Kaufman, KM; Prows, CA; Schorry, E; et al.
Human Molecular Genetics.
2017;
26:4836-4848.
Analysis of Copy Number Variants in 11 Pairs of Monozygotic Twins with Neurofibromatosis Type.
Sites, ER; Smolarek, TA; Martin, LJ; Viskochil, DH; Stevenson, DA; Ullrich, NJ; Messiaen, LM; Schorry, EK.
American Journal of Medical Genetics, Part A.
2017;
173:647-653.