1. Caregivers of individuals with Rubinstein–Taybi syndrome: Perspectives, experiences, and relationships with medical professionals. Issue 1 (3rd July 2021) Authors: Webster, Joshua; Wiley, Susan; Schorry, Elizabeth; Bowers, Katherine; Collins Ruff, Kathleen; Riddle, Ilka Journal: Journal of genetic counseling Issue: Volume 31:Issue 1(2022) Page Start: 153 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. (19th September 2017) Authors: 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 Journal: Human molecular genetics Issue: Volume 26:Number 24(2017:Dec. 15) Page Start: 4836 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies. Issue 3 (17th January 2014) Authors: Widemann, Brigitte C.; Acosta, Maria T.; Ammoun, Sylvia; Belzberg, Allan J.; Bernards, Andre; Blakeley, Jaishri; Bretscher, Antony; Cichowski, Karen; Clapp, D. Wade; Dombi, Eva; Evans, Gareth D.; Ferner, Rosalie; Fernandez‐Valle, Cristina; Fisher, Michael J.; Giovannini, Marco; Gutmann, David H.;... Journal: American journal of medical genetics Issue: Volume 164:Issue 3(2014.) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation. Issue 11 (21st August 2015) Authors: 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; Bi... Journal: Human mutation Issue: Volume 36:Issue 11(2015:Nov.) Page Start: 1052 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. NF106: A Neurofibromatosis Clinical Trials Consortium Phase II Trial of the MEK Inhibitor Mirdametinib (PD-0325901) in Adolescents and Adults With NF1-Related Plexiform Neurofibromas. Issue 7 (1st March 2021) Authors: Weiss, Brian D.; Wolters, Pamela L.; Plotkin, Scott R.; Widemann, Brigitte C.; Tonsgard, James H.; Blakeley, Jaishri; Allen, Jeffrey C.; Schorry, Elizabeth; Korf, Bruce; Robison, Nathan J.; Goldman, Stewart; Vinks, Alexander A.; Emoto, Chie; Fukuda, Tsuyoshi; Robinson, Coretta T.; Cutter, Gary; E... Journal: Journal of clinical oncology Issue: Volume 39:Issue 7(2021) Page Start: 797 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. NFB-17. MEK INHIBITOR BINIMETINIB SHOWS CLINICAL ACTIVITY IN CHILDREN WITH NEUROFIBROMATOSIS TYPE 1- ASSOCIATED PLEXIFORM NEUROFIBROMAS: A REPORT FROM PNOC AND THE NF CLINICAL TRIALS CONSORTIUM. (4th December 2020) Authors: Mueller, Sabine; Reddy, Alyssa T; Dombi, Eva; Allen, Jeffrey; Packer, Roger; Clapp, Wade; Goldman, Stewart; Schorry, Elizabeth; Tonsgard, James; Blakeley, Jaishri; Ullrich, Nicole J; Gross, Andrea; Walsh, Karin; Thomas, Coretta; Edwards, Lloyd; Prados, Michael; Korf, Bruce; Fisher, Michael J Journal: Neuro-oncology Issue: Volume 22(2020)Supplement 3 Page Start: iii420 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. NFM-06. NF106: PHASE 2 TRIAL OF THE MEK INHIBITOR PD-0325901 IN ADOLESCENTS AND ADULTS WITH NF1-RELATED PLEXIFORM NEUROFIBROMAS: AN NF CLINICAL TRIALS CONSORTIUM STUDY. Issue 2 (22nd June 2018) Authors: Weiss, Brian; Plotkin, Scott; Widemann, Brigitte; Tonsgard, James; Blakeley, Jaishri; Allen, Jeffrey; Schorry, Elizabeth; Korf, Bruce; Rosser, Tena; Goldman, Stewart; Vinks, Alexander; Cutter, Gary; Dombi, Eva; Ratner, Nancy; Packer, Roger; Fisher, Michael Journal: Neuro-oncology Issue: Volume 20:Issue 2(2018)supplement 2 Page Start: i143 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. NFM-06. NF106: PHASE 2 TRIAL OF THE MEK INHIBITOR PD-0325901 IN ADOLESCENTS AND ADULTS WITH NF1-RELATED PLEXIFORM NEUROFIBROMAS: AN NF CLINICAL TRIALS CONSORTIUM STUDY. Issue 2 (22nd June 2018) Authors: Weiss, Brian; Plotkin, Scott; Widemann, Brigitte; Tonsgard, James; Blakeley, Jaishri; Allen, Jeffrey; Schorry, Elizabeth; Korf, Bruce; Rosser, Tena; Goldman, Stewart; Vinks, Alexander; Cutter, Gary; Dombi, Eva; Ratner, Nancy; Packer, Roger; Fisher, Michael Journal: Neuro-oncology Issue: Volume 20:Issue 2(2018)supplement 2 Page Start: i143 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Patient-reported outcomes of pain and physical functioning in neurofibromatosis clinical trials. (16th August 2016) Authors: 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 Journal: Neurology Issue: Volume 87:Number 7(2016)Supplement 1 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1. (13th December 2016) Authors: 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... Journal: Neurology Issue: Volume 87:Number 24(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗