Sabrina W Yum

Sabrina W Yum

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Sabrina W Yum

Sabrina W Yum

Publications by authors named "Sabrina W Yum"

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30Publications

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Balance impairment in pediatric charcot-marie-tooth disease.

Muscle Nerve 2019 Sep 15;60(3):242-249. Epub 2019 May 15.

Children's Hospital of Philadelphia, Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/mus.26500DOI Listing
September 2019

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.

Arch Dis Child 2019 Sep 4. Epub 2019 Sep 4.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA

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http://dx.doi.org/10.1136/archdischild-2019-317910DOI Listing
September 2019

Thoracoscopic thymectomy for juvenile myasthenia gravis.

Pediatr Surg Int 2019 May 7;35(5):603-610. Epub 2019 Feb 7.

Division of Pediatric General, Thoracic and Fetal Surgery, Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/s00383-019-04441-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6456483PMC
May 2019

βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.

Am J Hum Genet 2018 06 31;102(6):1158-1168. Epub 2018 May 31.

Department of Neuroscience and Integrative Molecular and Biomedical Sciences Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.04.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992132PMC
June 2018

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

Sabrina W. Yum, MD, is Pediatric Neurologist, Neurology Department, Children's Hospital of Philadelphia, PA, and Assistant Professor of Clinical Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.

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http://dx.doi.org/10.5014/ajot.2018.022939DOI Listing
February 2018

Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.

Ann Neurol 2018 01;83(1):153-165

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.

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http://doi.wiley.com/10.1002/ana.25130
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http://dx.doi.org/10.1002/ana.25130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5876123PMC
January 2018

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

Neurology 2017 Aug 2;89(9):927-935. Epub 2017 Aug 2.

From the Department of Neurology (F.B.P., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.L., A.M.R., M.M.R.), UCL Institute of Neurology, UK; Department of Neurology (C.P., D.P.), Carlo Besta Neurological Institute, Milan, Italy; Department of Neurosciences (G.P.), Institute of Telese Terme (BN), Italy; Children's Hospital at Westmead (J.B.), University of Sydney, Australia; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Neuromuscular Program (S.W.Y.), Children's Hospital of Philadelphia, PA; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.D.), Stanford University, CA; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics; and Department of Neurology (S.S.S.), University of Pennsylvania, Philadelphia.

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http://dx.doi.org/10.1212/WNL.0000000000004296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5577965PMC
August 2017

A 6-Year-Old With Leg Cramps.

Pediatrics 2015 Oct 14;136(4):732-9. Epub 2015 Sep 14.

Departments of Pediatrics, and Anesthesiology and Critical Care Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; and.

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http://dx.doi.org/10.1542/peds.2015-0332DOI Listing
October 2015

Spectrum of neuropathophysiology in spinal muscular atrophy type I.

J Neuropathol Exp Neurol 2015 Jan;74(1):15-24

From the Departments of Pathology (BNH), Pediatrics (BNH, MB, SWY, GT, RSF), and Neurology (SWY, GT, RSF), The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania; and Center for Motor Neuron Biology and Disease (SK, URM) and the Departments of Pathology and Cell Biology (SK, URM), Neurology (URM), and Pediatrics (WKC), Columbia University Medical Center, New York, New York.

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http://dx.doi.org/10.1097/NEN.0000000000000144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350580PMC
January 2015

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Aberrant connexin 43 and 26 expression in cervical dysplasia.

Anal Quant Cytol Histol 2012 Feb;34(1):28-40

Section of Surgical Pathology, Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, Pennsylvania 19101, USA.

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February 2012

Central nervous system dysfunction in a mouse model of FA2H deficiency.

Glia 2011 Jul 13;59(7):1009-21. Epub 2011 Apr 13.

Department of Biochemistry and Molecular Biology, Medical University of South Carolina, Charleston, South Carolina 29425, USA.

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http://dx.doi.org/10.1002/glia.21172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3094470PMC
July 2011

Connexin43 Expression Increases in the Epithelium and Stroma along the Colonic Neoplastic Progression Pathway: Implications for Its Oncogenic Role.

Gastroenterol Res Pract 2011 30;2011:561719. Epub 2011 Jun 30.

Department of Pathology and Laboratory Medicine, Pennsylvania Hospital, Philadelphia, PA 19107, USA.

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http://www.hindawi.com/journals/grp/2011/561719/
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http://dx.doi.org/10.1155/2011/561719DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132986PMC
July 2011

Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26.

Mol Cell Neurosci 2011 Jun 30;47(2):71-8. Epub 2010 Oct 30.

Department of Pediatrics, Division of Neurology, The Children's Hospital of Philadelphia, USA.

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http://dx.doi.org/10.1016/j.mcn.2010.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132585PMC
June 2011

Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.

Neurobiol Dis 2010 May 21;38(2):226-36. Epub 2010 Jan 21.

Division of Neurology, The Children's Hospital of Philadelphia, Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.nbd.2010.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2868926PMC
May 2010

A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

Ann Neurol 2009 Dec;66(6):759-70

Section of Neurology, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA 19134, USA.

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http://dx.doi.org/10.1002/ana.21728DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439312PMC
December 2009

Human connexin26 and connexin30 form functional heteromeric and heterotypic channels.

Am J Physiol Cell Physiol 2007 Sep 5;293(3):C1032-48. Epub 2007 Jul 5.

Section of Neurology, St. Christopher's Hospital for Children, Erie Ave. at Front St., Philadelphia, PA 19134, USA.

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http://dx.doi.org/10.1152/ajpcell.00011.2007DOI Listing
September 2007

Diverse trafficking abnormalities of connexin32 mutants causing CMTX.

Neurobiol Dis 2002 Oct;11(1):43-52

Division of Neurology, St. Christopher's Hospital for Children, MCP--Hahnemann University, Philadelphia, Pennsylvania 19134, USA.

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October 2002

Cellular mechanisms of connexin32 mutations associated with CNS manifestations.

J Neurosci Res 2002 Jun;68(5):522-34

Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/jnr.10255DOI Listing
June 2002