Publications by authors named "Elizabeth Schorry"

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Psychosocial functioning and determinants of the health-related quality of life in children with neurofibromatosis type 1 and cognitive impairments.
Belinda Barton, Pamela L Wolters, Karin S Walsh, Nicole J Ullrich, Tena Rosser, Elizabeth Schorry

J Neurooncol· August 2025

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Qualitative aspects of pain in children and adults with neurofibromatosis type 1 and plexiform neurofibromas: Causes, consequences, and communication.
Melissa Baker, Staci Martin, Nour Al Ghriwati, Paige Little, Kari Struemph, Elizabeth K Schorry

J Health Psychol· July 2025

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Development of patient reported outcome measures assessing tumor pain intensity and tumor pain interference for individuals with neurofibromatosis type 1 and plexiform neurofibromas: qualitative findings.
Nour Al Ghriwati, Kari Struemph, Staci Martin, Paige Little, Melissa Baker, Elizabeth K Schorry

J Patient Rep Outcomes· April 2025

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Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.
Jenny P Garzon, Andrea Patete, Lindsey Aschbacher-Smith, Dima Qu'd, Geraldine Kelly-Mancuso, Elizabeth Schorry

Am J Med Genet C Semin Med Genet· December 2024

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

Neurol Genet· August 2024

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Consensus-Based Best Practice Guidelines for the Management of Spinal Deformity and Associated Tumors in Pediatric Neurofibromatosis Type 1: Screening and Surveillance, Surgical Intervention, and Medical Therapy.
Amy L Xu, Krishna V Suresh, Jaime A Gomez, John B Emans, A Noelle Larson, Elizabeth K Schorry

J Pediatr Orthop· August 2023

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Motor Function and Physiology in Youth With Neurofibromatosis Type 1.
Alexander C Doherty, David A Huddleston, Paul S Horn, Nancy Ratner, Brittany N Simpson, Elizabeth K Schorry

Pediatr Neurol· June 2023

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MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus.
Peter M K de Blank, Andrea M Gross, Srivandana Akshintala, Jaishri O Blakeley, Gideon Bollag, Elizabeth K Schorry

Neuro Oncol· November 2022

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Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Scott R Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A Avery, Elizabeth Schorry

Genet Med· September 2022

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Caregivers of individuals with Rubinstein-Taybi syndrome: Perspectives, experiences, and relationships with medical professionals.
Joshua Webster, Susan Wiley, Elizabeth Schorry, Katherine Bowers, Kathleen Collins Ruff

J Genet Couns· February 2022

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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Eric Legius, Ludwine Messiaen, Pierre Wolkenstein, Patrice Pancza, Robert A Avery, Elizabeth Schorry

Genet Med· August 2021

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Current Recommendations for Patient-Reported Outcome Measures Assessing Domains of Quality of Life in Neurofibromatosis Clinical Trials.
Pamela L Wolters, Ana-Maria Vranceanu, Heather L Thompson, Staci Martin, Vanessa L Merker, Elizabeth K Schorry

Neurology· August 2021

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Early-Onset Spinal Deformity in Neurofibromatosis Type 1: Natural History, Treatment, and Imaging Surveillance.
Majd Marrache, Krishna V Suresh, Daniel J Miller, Steven Hwang, Elizabeth K Schorry

JBJS Rev· July 2021

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Cognition, ADHD Symptoms, and Functional Impairment in Children and Adolescents With Neurofibromatosis Type 1.
Jonathan M Payne, Kristina M Haebich, Rachel MacKenzie, Karin S Walsh, Stephen J C Hearps, Elizabeth K Schorry

J Atten Disord· June 2021

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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.
Brian D Weiss, Pamela L Wolters, Scott R Plotkin, Brigitte C Widemann, James H Tonsgard, Elizabeth Schorry

J Clin Oncol· March 2021

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Are Some Randomized Clinical Trials Impossible?
Jonathan J Rios, B Stephens Richards, David A Stevenson, Beverly Oberlander, David Viskochil, Elizabeth K Schorry

J Pediatr Orthop· January 2021

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Neurofibromatosis Type 2 (NF2) and the Implications for Vestibular Schwannoma and Meningioma Pathogenesis.
Suha Bachir, Sanjit Shah, Scott Shapiro, Abigail Koehler, Abdelkader Mahammedi, Elizabeth Schorry

Int J Mol Sci· January 2021

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The Use of MEK Inhibitors in Neurofibromatosis Type 1-Associated Tumors and Management of Toxicities.
Laura J Klesse, Justin T Jordan, Heather B Radtke, Tena Rosser, Elizabeth Schorry

Oncologist· July 2020

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Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1.
Myrthe J Ottenhoff, André B Rietman, Sabine E Mous, Ellen Plasschaert, Daniela Gawehns, Elizabeth Schorry

Genet Med· May 2020

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

Clin Epigenetics· January 2020

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Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1.
Jonathan M Payne, Stephen J C Hearps, Karin S Walsh, Iris Paltin, Belinda Barton, Elizabeth K Schorry

Ann Clin Transl Neurol· December 2019

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Health Supervision for Children With Neurofibromatosis Type 1.
David T Miller, Debra Freedenberg, Elizabeth Schorry, Nicole J Ullrich, David Viskochil

Pediatrics· May 2019

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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.
Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Elizabeth K Schorry

Genet Med· April 2019

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

Am J Med Genet A· April 2019

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Correction: 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.
Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Elizabeth K Schorry

Genet Med· March 2019

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