Elizabeth K Schorry - Cincinnati Children's Hospital Medical Center

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论文共 81 篇作者统计合作学者相似作者

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Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case Report

Monica S Arroyo,Christine Fuller,Elizabeth K Schorry,Elizabeth Ulm,Cuixia Tian

Neurology. Geneticsno. 4 (2024): e200177-e200177

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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, Carolyn R. Raski,Allison Goetsch Weisman, Madison Hankins, Michael Sawin,Katherine Kim,Andy Drackley,Janice Zeid,

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2024)

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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,Lindsey Aschbacher-Smith,Carlos E. Prada,Donald L. Gilbert

Pediatric neurology（2023）

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Supplement 1 from Gene Expression Analysis Identifies Potential Biomarkers of Neurofibromatosis Type 1 Including Adrenomedullin

Trent R. Hummel,Walter J. Jessen,Shyra J. Miller,Lan Kluwe,Victor F. Mautner,Margaret R. Wallace, Conxi Lázaro,Grier P. Page,Paul F. Worley,Bruce J. Aronow,Elizabeth K. Schorry,Nancy Ratner

openalex（2023）

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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 Xu,Krishna Suresh,Jaime A. Gomez,JohnB Emans,A. Noelle Larson,Patrick J. Cahill,Lindsay M. Andras,Klane K. White,Daniel J. Miller,Joshua S. Murphy,Mari L. Groves,Allan J. Belzberg,

Journal of Pediatric Orthopaedicsno. 7 (2023): e531-e537

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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,Jaishri O. Blakeley,Dusica Babovic-Vuksanovic,Rosalie Ferner,Michael J. Fisher,Jan M. Friedman,Marco Giovannini,David H. Gutmann,

Genetics in medicine（2022）

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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,Ashley Cannon,Eva Dombi,Jason Fangusaro,Bruce D. Gelb,Darren Hargrave,AeRang Kim,Laura J. Klesse,

Neuro-oncology（2022）

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Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly (vol 26, pg 4836, 2017)

Andrew DiStasio,Ashley Driver,Kristen Sund,Milene Donlin,Ranjithmenon Muraleedharan,Shabnam Pooya,Beth Kline-Fath,Kenneth M. Kaufman,Cynthia A. Prows,Elizabeth Schorry,Biplab Dasgupta,Rolf W. Stottmann

HUMAN MOLECULAR GENETICS（2022）

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Early-Onset Spinal Deformity in Neurofibromatosis Type 1

Majd Marrache,Krishna V. Suresh,Daniel J. Miller,Steven Hwang,Elizabeth K. Schorry,Jonathan J. Rios,Paul D. Sponseller

JBJS Reviewsno. 7 (2021)

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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,Yemima Berman,Jaishri Blakeley,Dusica Babovic-Vuksanovic,Karin Soares Cunha,Rosalie Ferner,Michael J. Fisher,Jan M. Friedman,

Genetics in medicine（2021）

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