ZhengFanMDclinical genetics

PubMed

• 2 citations
  Sleep apnoea and hypoventilation in patients with five major types of muscular dystrophy.
  Leping Li, David M Umbach, Pallav Halani, Min Shi, Mihye Ahn, Deryck S C Yeung, Bradley Vaughn, Zheng Jane Fan, Li, Y.> ;BMJ Open Respiratory Research. 2023 Apr 1
• A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization.
  Leping Li, Lalith Perera, Sonia A Varghese, Yael Shiloh-Malawsky, Senyene E Hunter, Tam P Sneddon, Cynthia M Powell, A Gregory Matera, Zheng Fan> ;Frontiers in Cellular Neuroscience. 2023 Jan 1
• 1 citations
  : A tool for analysis and visualization of sleep periods using electroencephalography data.
  Amlan Talukder, Yuanyuan Li, Deryck Yeung, David M Umbach, Zheng Fan, Leping Li> ;Frontiers in Sleep. 2023 Jan 1
• 1 citations
  Response of Central Giant Cell Granuloma of the Jaw to Imatinib.
  Brian Tallent, Ricardo J Padilla, Charles McKay, Ann Katherine M Foreman, Zheng Fan, Julie Blatt> ;Journal of Pediatric Hematology/oncology. 2023 Jul 1
• 2 citations
  Power analysis for idiographic (within-subject) clinical trials: Implications for treatments of rare conditions and precision medicine.
  Stephen Tueller, Derek Ramirez, Jessica D Cance, Ai Ye, Anne C Wheeler, Zheng Fan, Christoph Hornik, Ty A Ridenour> ;Behavior Research Methods. 2023 Dec 1
• 5 citations
  Evaluation of electroencephalography biomarkers for Angelman syndrome during overnight sleep.
  Yuval Levin, Nishitha S Hosamane, Taylor E McNair, Shrujana S Kunnam, Benjamin D Philpot, Zheng Fan, Michael S Sidorov> ;Autism Research. 2022 Jun 1
• 12 citations
  A voluntary statewide newborn screening pilot for spinal muscular atrophy: Results from early check
  Katerina S. Kucera, Jennifer L. Taylor, Veronica R. Robles, Kristin Clinard, Brooke Migliore, Beth Boyea, Katherine Charlotte Okoniewski, Martin Duparc, Catherine Rehd...> ;International Journal of Neonatal Screening. 2021 Mar 21
• 37 citations
  Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina
  Stacey Lee, Kristin Clinard, Sarah P. Young, Catherine Rehder, Zheng Fan, Ali S. Calikoglu, Deeksha Bali, Donald B. Bailey, Lisa M. Gehtland, David S. Millington, Hari...> ;JAMA Network Open. 2020 Jan 3
• 12 citations
  Factors associated with dream enacting behaviors among US farmers
  Srishti Shrestha, Freya Kamel, David M. Umbach, Zheng Fan, Laura E. Beane Freeman, Stella Koutros, Michael C. R. Alavanja, Aaron Blair, Dale P. Sandler, Honglei Chen> ;Parkinsonism & Related Disorders. 2018 Jul 10
• 36 citations
  Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study.
  Hanna den Bakker, Michael S. Sidorov, Zheng Fan, David J. Lee, Lynne M. Bird, Catherine J. Chu, Benjamin D. Philpot> ;Molecular Autism. 2018 Apr 27
• 38 citations
  Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
  Gloria T. Haskell, Michael C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, Chris Bizon, Nizar Chahin, Robert S. Greenwood, Laura V. Milko, Ya...> ;Neurology. Genetics. 2018 Feb 1
• 4 citations
  Sleep Disorders in Childhood Neurogenetic Disorders.
  Laura Beth Mann Dosier, Bradley V. Vaughn, Zheng Fan> ;Children. 2017 Sep 12
• 8 citations
  Novel idiopathic DCM-related SCN5A variants localised in DI-S4 predispose electrical disorders by reducing peak sodium current density.
  Cheng Shen, Lei Xu, Shasha Han, Zhen Dong, Xiaona Zhao, Shaochun Wang, Sanli Qian, Bingyu Li, Xin Ma, Peng Wang, Hong Zhu, Yunzeng Zou, Zheng Fan, Junbo Ge, Aijun Sun> ;Journal of Medical Genetics. 2017 Nov 1
• 30 citations
  Sleep Apnea and Hypoventilation in Patients with Down Syndrome: Analysis of 144 Polysomnogram Studies
  Zheng Fan, Mihye Ahn, Heidi L. Roth, Leping Li, Bradley V. Vaughn> ;Children. 2017 Jun 30
• 60 citations
  Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6)...
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;American Journal of Human Genetics. 2016 Jul 7
• Dystrophin-deficient dogs with reduced myostatin have unequal muscle growth and greater joint contractures.
  Joe N Kornegay, Daniel J Bogan, Janet R Bogan, Jennifer L Dow, Jiahui Wang, Zheng Fan, Naili Liu, Leigh C Warsing, Robert W Grange, Mihye Ahn, Cynthia J Balog-Alvarez,...> ;Skeletal Muscle. 2016 Jan 1
• 1 citations
  A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease
  Julia M. Henry, Nizar Chahin, Yael Shiloh-Malawsky, Zheng Fan, Duygu Selcen> ;Journal of Neurology. 2015 May 23
• 14 citations
  High-Pressure Transvenous Perfusion of the Upper Extremity in Human Muscular Dystrophy: A Safety Study with 0.9% Saline.
  Zheng Fan, Keith C. Kocis, Robert D. Valley, James F. Howard, Manisha Chopra, Yasheng Chen, Hongyu An, Weili Lin, Joseph Muenzer, William J. Powers> ;Human Gene Therapy. 2015 May 7
• 27 citations
  NBD delivery improves the disease phenotype of the golden retriever model of Duchenne muscular dystrophy
  Joe N. Kornegay, Jennifer M. Peterson, Daniel J. Bogan, William Kline, Janet R. Bogan, Jennifer L. Dow, Zheng Fan, Jiahui Wang, Mihye Ahn, Hongtu Zhu, Martin Styner, D...> ;Skeletal Muscle. 2014 Oct 23
• 19 citations
  GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia
  Zheng Fan, Robert S. Greenwood, Ana Felix, Yael Shiloh-Malawsky, Michael B. Tennison, Myra I. Roche, Kristy Crooks, Karen E. Weck, Kirk C. Wilhelmsen, Jonathan S. Berg...> ;Journal of Neurology. 2014 Feb 8
• 1 citations
  Patient-Specific Biomechanical Modeling of Ventricular Enlargement in Hydrocephalus from Longitudinal Magnetic Resonance Imaging
  Yasheng Chen, Zheng Fan, Songbai Ji, Joseph Muenzer, Hongyu An, Weili Lin> ;Medical Image Computing and Computer-Assisted Intervention. 2013 Sep 22
• 34 citations
  Characteristics of magnetic resonance imaging biomarkers in a natural history study of golden retriever muscular dystrophy
  Zheng Fan, Jiahui Wang, Mihye Ahn, Yael Shiloh-Malawsky, Nizar Chahin, Sandra Elmore, C. Robert Bagnell, Kathy Wilber, Hongyu An, Weili Lin, Hongtu Zhu, Martin Styner,...> ;Neuromuscular Disorders. 2014 Feb 1
• 24 citations
  A computerized MRI biomarker quantification scheme for a canine model of Duchenne muscular dystrophy
  Jiahui Wang, Zheng Fan, Krista Vandenborne, Glenn A. Walter, Yael Shiloh-Malawsky, Hongyu An, Joe N. Kornegay, Martin Styner> ;International Journal of Computer Assisted Radiology and Surgery. 2013 Jan 9
• 79 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, Santhosh Girirajan, Debra J Keelean-Fuller, Zheng Fan, Jill Pouncey, Cathy A...> ;Human Mutation. 2012 Apr 1
• 78 citations
  The paradox of muscle hypertrophy in muscular dystrophy.
  Joe N. Kornegay, Martin K. Childers, Daniel J. Bogan, Janet R. Bogan, Peter P. Nghiem, Jiahui Wang, Zheng Fan, James F. Howard, Scott J. Schatzberg, Jennifer L. Dow, R...> ;Physical Medicine and Rehabilitation Clinics of North America. 2012 Feb 1
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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

• 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
• Gene modification therapy for genetic neuromuscular diseases, focus on SMA and Duchenne muscular dystrophy 
  1/1/2019
• Sleep in Down Syndrome 
  1/1/2018
• 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
• 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
• Lecture of sleep disordered breathing in children 
  1/1/2014
• Shift Work 
  Orange and Durham county, 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
• Genetics of Epilepsy: an update 
  Asheville, NC - 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
• Treatment Updates and MR Imaging in MPS (Mucopolysacchridoses) 
  UNC-CH, Chapel Hill, NC - 1/1/2008
• Laminopathies 
  UNC-CH - 1/1/2008
• Brain MRI imaging in patients with MPS II (Hunter syndrome). 
  Chapel Hill, NC - 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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