Sabrina Yum, MD

Papers

2019

Kim AG, Upah SA, Brandsema JF, Yum SW, Blinman TA. Thoracoscopic thymectomy for juvenile myasthenia gravis. Pediatr Surg Int. 2019 May;35(5):603-610. doi: 10.1007/s00383-019-04441-0. Epub 2019 Feb 7.

2018

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.

Books

Chapters

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 Presentations

2014

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.