Sabrina Yum, MD Sabrina Yum, MD, is a pediatric neurologist at Children's Hospital of Philadelphia. Areas of Expertise: Neuromuscular disease, Pediatric electromyography Locations: Main Campus Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467) Education and Training Medical SchoolMD - Guangzhou Medical College, Guangzhou, China InternshipPediatrics - Albert Einstein College of Medicine/Montefiore Medical Center, NY ResidencyPediatrics - Albert Einstein College of Medicine/Montefiore Medical Center, NY FellowshipPediatric Neurology - Johns Hopkins University School of Medicine, Baltimore, MD Neuromuscular Diseases and EMG - University of Pennsylvania, Philadelphia, PA Additional TrainingPostdoctoral Research Fellow - Center for Neural Injury, University of California, San Francisco/Veterans Administration Medical Center, San Francisco, CA Board CertificationNeurology and Child NeurologyNeurophysiology Titles and Academic Titles Attending PhysicianAssistant Professor of Neurology, Perelman School of Medicine at the University of Pennsylvania Conditions Treated Brachial Plexus and Peripheral Nerve Injuries Myasthenia Gravis Guillain-Barre Syndrome in ChildrenJuvenile DermatomyositisMuscular DystrophySpinal Muscular Atrophy (SMA) Departments and Services Neuromuscular Program Division of NeurologyBrachial Plexus Injury Program Research Interests Molecular and cellular mechanism of Charcot-Marie-Tooth disease Connexin biology Neurofilament biology Publications Papers2018 Wang CC, Ortiz-González XR, Yum SW, Gill SM, White A, Kelter E, Seaver LH, Lee S, Wiley G, Gaffney PM, Wierenga KJ, Rasband MN. βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. Am J Hum Genet. 2018 Jun 7;102(6):1158-1168. doi: 10.1016/j.ajhg.2018.04.012. Epub 2018 May 31. Estilow T, Glanzman AM, Powers K, Moll A, Flickinger J, Medne L, Tennekoon G, Yum SW. Use of the Wilmington Robotic Exoskeleton to Improve Upper Extremity Function in Patients With Duchenne Muscular Dystrophy. Am J Occup Ther. 2018 Mar/Apr;72(2):7202345010p1-7202345010p5. doi: 10.5014/ajot.2018.022939. Ortiz-González XR, Tintos-Hernández JA, Keller K, Li X, Foley AR, Bharucha-Goebel DX, Kessler SK, Yum SW, Crino PB, He M, Wallace DC, Bönnemann CG. Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy. Ann Neurol. 2018 Jan;83(1):153-165. doi: 10.1002/ana.25130. Beggs AH, Byrne BJ, De Chastonay S, Haselkorn T, Hughes I, James ES, Kuntz NL, Simon J, Swanson LC, Yang ML, Yu ZF, Yum SW, Prasad S. A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study. Muscle Nerve. 2018 Apr;57(4):550-560. doi: 10.1002/mus.26018. Epub 2017 Dec 22. 2017 Cornett KMD, Menezes MP, Shy RR, Moroni I, Pagliano E, Pareyson D, Estilow T, Yum SW, Bhandari T, Muntoni F, Laura M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Bray P, Halaki M, Shy ME, Burns J; CMTPedS Study Group. Natural history of Charcot-Marie-Tooth disease during childhood. Ann Neurol. 2017 Sep;82(3):353-359. doi: 10.1002/ana.25009. Panosyan FB, Laura M, Rossor AM, Pisciotta C, Piscosquito G, Burns J, Li J, Yum SW, Lewis RA, Day J, Horvath R, Herrmann DN, Shy ME, Pareyson D, Reilly MM, Scherer SS; Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN). Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). Neurology. 2017 Aug 29;89(9):927-935. doi: 10.1212/WNL.0000000000004296. Epub 2017 Aug 2. Tiao J, Feng R, Berger EM, Brandsema JF, Coughlin CC, Khan N, Kichula EA, Lerman MA, Lvovich S, McMahon PJ, Rider LG, Rubin AI, Scalzi LV, Smith DM, Taxter AJ, Treat JR, Williams RP, Yum SW, Okawa J, Werth VP. Evaluation of the reliability of the Cutaneous Dermatomyositis Disease Area and Severity Index and the Cutaneous Assessment Tool-Binary Method in juvenile dermatomyositis among paediatric dermatologists, rheumatologists and neurologists. Br J Dermatol. 2017 Oct;177(4):1086-1092. doi: 10.1111/bjd.15596. Epub 2017 Jul 31. 2016 Cornett KM, Menezes MP, Bray P, Halaki M, Shy RR, Yum SW, Estilow T, Moroni I, Foscan M, Pagliano E, Pareyson D, Laurá M, Bhandari T, Muntoni F, Reilly MM, Finkel RS, Sowden J, Eichinger KJ, Herrmann DN, Shy ME, Burns J; Inherited Neuropathies Consortium. Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease. JAMA Neurol. 2016 Jun 1;73(6):645-51. doi: 10.1001/jamaneurol.2016.0171. Motley WW, Palaima P, Yum SW, Gonzalez MA, Tao F, Wanschitz JV, Strickland AV, Löscher WN, De Vriendt E, Koppi S, Medne L, Janecke AR, Jordanova A, Zuchner S, Scherer SS. De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease. Brain. 2016 Jun;139(Pt 6):1649-56. doi: 10.1093/brain/aww055. Epub 2016 Mar 23. 2015 Jenssen BP, Lautz AJ, Orthmann-Murphy JL, Yum SW, Waanders A, Fox E. A 6-Year-Old With Leg Cramps. Pediatrics. 2015 Oct;136(4):732-9. doi: 10.1542/peds.2015-0332. Epub 2015 Sep 14. Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC). Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. Brain. 2015 Nov;138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25. Harding BN, Kariya S, Monani UR, Chung WK, Benton M, Yum SW, Tennekoon G, Finkel RS. Spectrum of neuropathophysiology in spinal muscular atrophy type I. J Neuropathol Exp Neurol. 2015 Jan;74(1):15-24. doi: 10.1097/NEN.0000000000000144. Fridman V, Bundy B, Reilly MM, Pareyson D, Bacon C, Burns J, Day J, Feely S, Finkel RS, Grider T, Kirk CA, Herrmann DN, Laurá M, Li J, Lloyd T, Sumner CJ, Muntoni F, Piscosquito G, Ramchandren S, Shy R, Siskind CE, Yum SW, Moroni I, Pagliano E, Zuchner S, Scherer SS, Shy ME; Inherited Neuropathies Consortium. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. J Neurol Neurosurg Psychiatry. 2015 Aug;86(8):873-8. doi: 10.1136/jnnp-2014-308826. Epub 2014 Nov 27. 2014 Kamiya k, Yum SW, Kurebayashi-Kunihiro N, Muraki M, Ogawa K, Karasawa K, Gotoh R, Suginani Y, Yamanaka H, Ito-Kawashima S, Iizuka T, Sakurai T, Noda T, Minowa O, Ikeda K: Connexin26 mutations that cause hereditary deafness lead to macromolecular complex degradation of cochlear gap junction plaques. J Clinical Investigation 124(4): 1598-607, 2014. Brownstein C, Beggs A, Homer N, Merriman B, et al, Yum SW, et al, Kohane I, Margulies D: An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results: The CLARITY Challenge. Genome Biology 15(3): R53, 2014. 2012 Hagemann IS, Pasha TL, Roberts SA, Yum SW, Zhang PJ. Aberrant connexin 43 and 26 expression in cervical dysplasia. Anal Quant Cytol Histol. 2012 Feb;34(1):28-40. PubMed PMID: 22590817. BooksChapters 2009 Yum SW, Marks HG (2009): Neuromuscular disorders, In Legido A and Piatt JH (ed): Clinical Pediatric Neuroscience for Primary Care, American Academy of Pediatrics 1999 Yum SW, Bingham P (1999): Polyradiculoneuropathies. In Burg FD, Ingelfinger JR, Polin RA, and Wald ER (ed): Current Pediatric Therapy, 16thed, Philadelphia, WB Saunders. Yum SW, Bingham P (1999): Inflammatory myopathies. In Burg FD, Ingelfinger JR, Polin RA, and Wald ER (ed): Current Pediatric Therapy, 16thed, Philadelphia, WB Saunders. 1990 Faden AI, Weinstein P, Bakshi R, Yum SW, Lemke M and Graham SH (1990): Biochemical changes and secondary tissue injury after brain and spinal cord ischemia. Neurochemical Correlates of Cerebral Ischemia, Bazan N G, Braquet P, and Ginsberg M, Editor, Plenum Press, New York. Posters and Presentations2014 Estilow T, Glanzman A, Flickinger J, Powers KM, Medne L, Tennekoon G, Yum SW: The Wilmington Robotic Exoskeleton (WREX) Improves Upper Extremity Function in Patients with Duchenne Muscular Dystrophy. Poster presentation, MDA Scientific conference 2014. Yum SW, Medne L, Estilow T, Glanzman AM, DiVito D, Carsten G. Bonnemann CG: Severe, early onset Charcot–Marie–Tooth disease with rare presentations. Poster presentation. Poster presentation, MDA Scientific conference 2014. Medne L, Bonnemann CG, Scherer SS, Finkel R, Ortiz-Gonzalez X, Glanzman A, Estilow T, Moll A, Wang Y, Winder Y, Yum SW: The expanding phenotype of TRPV4 related neuropathies with notable intrafamilial variability. Poster presentation, MDA Scientific conference 2014. Guo X and Yum SW: Role of mitochondrial reactive oxygen species in cell death caused by connexin 26 mutations associated with keratitis-ichthyosis-deafness syndrome. Neurology 82(10): Supplement P2.281, 2014. Editorial and Academic Positions Academic Committees: 2009 –present, QI & Safety Committee Patient Experience Ratings About the Patient Experience Rating System The Patient Experience Rating is an average of all responses to the care provider related questions shown above from our nationally-recognized Press Ganey Patient Satisfaction Survey. Patients that are treated in outpatient or hospital environments may receive different surveys, and the volume of responses will vary by question. Responses are measured on a scale of 1 to 5 with 5 being the best score. We are committed to true transparency. However, to ensure the comments are fair and correctly attributed, we review each one before posting to the website. We exclude entire comments that disclose patient's protected health information, are off-topic, or include other confidential or inappropriate content. Comments will appear on provider bios only if providers have a minimum number of comments. Comments are shared internally for education purposes to ensure that we are doing our very best for the patients and families for whom we are privileged to care. The comments are submitted by patients and families and reflect their views and opinions. The comments are not endorsed by and do not reflect the views of Children’s Hospital of Philadelphia.