ZhengFanMDclinical genetics

PubMed

• 82 citations
  Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
  Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill, Michael E. Talkowski, Ian Blumenthal
  Human Mutation. 2012-04-01
• 121 citations
  A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II
  Joseph Muenzer, Christian J. Hendriksz, Zheng Fan, Suresh Vijayaraghavan, Victor Perry
  Genetics in Medicine. 2016-01-01
• 116 citations
  Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome
  Carol J. Gallione, Arthur S. Aylsworth, Jill Beis, Terri Berk, Barbara A. Bernhardt
  American Journal of Medical Genetics. Part A. 2010-02-01

Journal Articles

• Abnormal Coherence and Sleep Composition in Children with Angelman Syndrome: A Retrospective EEG Study  
  Lynne M Bird, David J Lee, Zheng Fan, Catherine J Chu, BioMed Central
• Statistical texture analysis based MRI quantification of Duchenne muscular dystrophy in a canine model  
  Wang J, Fan Z, Vandenborne K, Walter G, Shiloh-Malawsky Y, An H, Kornegay J, Styner M., Proc. SPIE, 1/1/2013
• Case Report: Anti-NMDA receptor encephalitis subacute cerebellitis remarkably responsive to rituximab  
  Kumar S, Fan Z, Greenwood R., J Pediatr Neurol, 1/1/2013
• Haploinsufficiency of the SOX5 gene at 12p121 associated with severe language delays, developmental delays, and mild dysmorphic features  
  Lamb A, Rosenfeld J, Neill N, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens K, MackayLoder L, Terespolsky D, Bader P, Rosenbaum K, Vallee S, Moeschler J, La..., Hum Mutat, 1/1/2012
• Response to the letter by Collins and Schimke  
  Adams SA, Coppinger J, Saitta SC , Stroud T, Kandamurugu M, Fan Z, Ballif BC, Shaffer LG, Bejjani BA, Genet Med, 1/1/2011
• MRI-based quantification of Duchenne muscular dystrophy in a canine model  
  Wang J, Fan Z, Kornegay JN, and Styner MA, Proceedings of SPIE Medical Imaging, Biomedical Applications in Molecular, Structural, and Functional Imaging, 1/1/2011
• Natural History of Christianson Syndrome  
  Schroer RJ, Holden KR, Tarpey P, Matheus MG, Griesemer DA, Friez M, Fan JZ, Simensen RJ, Str�mme P, Stevenson RE, Stratton M, Schwartz CE, Am J of Med Genet, 1/1/2010
• Correlation of Automated Volumetric Analysis of Brain MR Imaging with Cognitive Impairment in a Natural History Study of Mucopolysaccharidosis II  
  Fan Z, Styner M, Muenzer J, Poe M, and Escolar M, Am J Neuroradiol, 1/1/2010
• Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome  
  Gallione C, Aylsworth A, Beis J, Berk T, Bernhardt B, Clark R, Clericuzio C, Danesino C, Drautz J, Fahl J, Fan Z, Faughnan M, Ganguly A, Garvie J, Henderson K, Kini U,..., Am J of Med Genet, 1/1/2010
• Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH  
  Adams SA, Coppinger J, Saitta SC , Stroud T, Kandamurugu M, Fan Z, Ballif BC, Shaffer LG, Bejjani BA, Genet Med, 1/1/2009
• Hepatosplenomegaly in an 8-month-old child  
  Willis MS, Basinger A, Fan Z, Muenzer J, and Hammett-Stabler C, Lab. Med, 1/1/2006
• Microdeletion of 6q161 Encompassing EPHA7 in a Child with Mild Neurological Abnormalities and Dysmorphic Features: A Case Report  
  Traylor R, Fan Z, Hudson B, Rosenfeld J, Shaffer L, Torchia B and Ballif B, Mol Cytogen, 1/7./2009
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Books/Book Chapters

• Muscular Dystrophy: A Concise Guide 
  Chapter: Overview of current treatments for muscular dystrophy 
  Page 62.0 - 67.0Fan ZEditors: Raymond A. Huml, DVM, MS.Springer2015
• Gene and Cell Therapy: Therapeutic Mechanisms and Strategies 
  Chapter: Pressurized transvenous-retrograde extremity perfusion. 
  Page 439.0 - 449.0Fan Z, Kornegay J, Xiao X and W Powers.Editors: Nancy Smyth Templeton, PhD.CRC PressEdition 4th,2015

Abstracts/Posters

• Polysomnographic Characterization of Sleep Disturbance in Angelman Syndrome: a Case Series.
  Broman-Fulks J, Shiloh Y, Vaughn BV and Fan Z., AAN Annual Meeting, 1/1/2018
• Sleep Parameters of Patient�s with Duchenne�s Muscular Dystrophy.
  Ewing T, Ahn M, Kumar K, Vaughn BV, L Roth H and Fan Z, AASM annual meeting, 1/1/2017
• A case of Restless leg syndrome in a unilateral amputated phantom limb responded to Pregabalin and literature Search
  Kumar K, Ewing T, Vaughn BV, Roth HL, Fan Z, AASM annual meeting, 1/1/2017
• Clarifying Diagnoses - Application of Exome Sequencing for Neuromuscular Conditions.
  Haskell GT, Adams M, Zhou L, Guzman R, Strande N, Marchuk DS, Fan Z, Chahin N, Wilhelmsen KC, Weck K, Evans JP and Berg JS, AMP annual meeting, 1/1/2015
• Evolution of sleep disordered breathing in Patients with Down syndrome: polysomnographic findings.
  Fan Z, Roth H and Vaughn V, AASM annual meeting, 1/1/2015
• Safety of Investigational Intrathecal Enzyme Replacement Therapy in Mucopolysaccharidosis II (Hunter Syndrome) Children With Cognitive Impairment and Effect on Cerebro...
  Muenzer J, Shi P, Wang N, Fan Z, Hendriksz C, Vijay S, Barbier A, 12th ICIEM, 1/1/2013
• Comprehensive Service Delivery for Individuals with Angelman Syndrome: Lessons Learned and Future Directions.
  Wheeler A, Turcott C, DeRamus M, Christian R, Ollendick K, Fan Z, Powell C, Berry S, McCoy P., ASF Symposium, 1/1/2013
• Efficient hydrodynamic limb perfusion of an AAV9 mini-dystrophin in adult GRMD dogs by a clinically used, pressure- and speed-controlled pump.
  Li J, Qiao C, Bogan J, Li J, Tang R, Bogan D, Dow J, Fan Z, Powers W, Samulski RJ, Kornegay J and Xiao X., ASGC annual meeting, 1/1/2012
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Lectures

• Gene modification therapy for genetic neuromuscular diseases, focus on SMA and Duchenne muscular dystrophy 
  1/1/2019
• Updates for SMA treatments and gene modification therapy. Current topics in medical and human genetics 
  Department of Genetics and Pediatrics, UNC-CH - 1/1/2019
• Dawn of a new therapeutic era for spinal muscular atrophy (SAM) 
  Department of Pediatrics, UNC-CH - 1/1/2018
• An Interdisciplinary Team Approach for Treatment of Patients with Spinal Muscular Atrophy (SMA). 
  1/1/2018
• Sleep in Down Syndrome 
  1/1/2018
• Treatment for spinal muscular atrophy 
  University of North Carolina at Chapel Hill - 1/1/2017
• Gene therapy for neurological disorders 
  Neurology, UNC-CH - 1/1/2016
• Sleep Disorders in Children 
  Center for Life Long Learn, Friday Center, UN - 1/1/2016
• Sleep Disorders in Children with Genetic Syndromes 
  1/1/2015
• Shift Work 
  Orange and Durham county, NC - 1/1/2014
• Genetics of Epilepsy: an update 
  Asheville, NC - 1/1/2014
• GCH1 heterozygous mutation identified by whole-exome-sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia 
  Philadelphia - 1/1/2014
• Lecture of sleep disordered breathing in children 
  1/1/2014
• Therapeutic strategies for treating muscular dystrophy. 
  Chapel Hill - 1/1/2013
• Therapeutic strategies for neurogenetic disorder 
  UNC-CH - 1/1/2012
• Brain MRI imaging in MPS II: natural history study and intrathecal study 
  Minneapolis, MN - 1/1/2011
• Safety and Feasibility of High-pressure Transvenous Limb Perfusion with Saline in Muscular Dystrophy Patients 
  U Penn, Pennsylvania, 2010; Honolulu, 2011 - 1/1/2011
• Advances and Challenges in Gene Therapy for Muscular Dystrophy 
  Neurodevelopmental Disorder Research Center, UNC-CH, 2009; UNC-CH, 2010 - 1/1/2010
• Brain MRI imaging in patients with MPS II (Hunter syndrome). 
  Chapel Hill, NC - 1/1/2008
• Treatment Updates and MR Imaging in MPS (Mucopolysacchridoses) 
  UNC-CH, Chapel Hill, NC - 1/1/2008
• Laminopathies 
  UNC-CH - 1/1/2008
• Muscle MR Imaging in Duchenne muscular dystrophy (DMD) Patients and Dogs. 
  Bethesda, MD - 1/1/2007
• Genetic Causes of Epileptic Syndromes. 
  Chapel Hill, NC - 1/1/2007
• Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) 
  UNC-CH. - 1/1/2007
• Magel2 Gene and Circadian Output. 
  UNC-CH. - 1/1/2007
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