VinodhNarayananMD

PubMed

• Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathy.
  Dorothy K Grange, Daniel J Wegner, Jennifer A Wambach, Kathleen A Sisco, Stephen I Stone
  American Journal of Medical Genetics. Part A. 2025-01-01
• Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of theGene.
  Wayne M Jepsen, Andrew Fazenbaker, Keri Ramsey, Anna Bonfitto, Marcus Naymik
  International Journal of Molecular Sciences. 2024-11-06
• FGF12 copy number variant associated with epileptic encephalopathy.
  Anna Abraham, Keri Ramsey, Newell Belnap, Szabolcs Szelinger, Wayne Jepsen
  Clinical Genetics. 2024-07-01

Journal Articles

• Refining the Phenotype Associated with GNB1 Mutations: Clinical Data on 18 Newly Identified Patients and Review of the Literature  
  Vinodh Narayanan, Nancy J Mendelsohn, Ana Bircher, Tristan T Sands, Alejandro Iglesias, American Journal of Medical Genetics Part A
• De Novo Variant in KIF26B Is Associated with Pontocerebellar Hypoplasia with Infantile Spinal Muscular Atrophy  
  Pankaj B Agrawal, Vinodh Narayanan, Monica H Wojcik, Sanjay P Prabhu, American Journal of Medical Genetics Part A
• A Novel FBXO28 Frameshift Mutation in a Child with Developmental Delay, Dysmorphic Features, and Intractable Epilepsy: A Second Gene That May Contribute to the 1q41‐q4...  
  Vinodh Narayanan, Newell Belnap, American Journal of Medical Genetics Part A
• "A gain-of-function mutation in GRIK2 causes neurodevelopmental deficits"  
  Guzman YF, Ramsey K, Stolz JR, Craig DW, Huentelman MJ, Narayanan V, Swanson GT, Neurology Genetics, 1/1/2017
• "An Atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach"  
  Aintablian HK, Narayanan V, Belnap N, Ramsey K, Grebe T, Molecular Genetics and Metabolism Reports, 1/1/2017
• "A de novo splice-site mutation in CASK causes FG syndrome-4 and congenital nystagmus"  
  Dunn P, Prigatano GP, Szelinger S, et al, American Journal of Medical Genetics, Part A, 1/1/2017
• "Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia"  
  Feyma T, Ramsey K, Huentelman MJ, Craig DW, Narayanan V, Kruer MC, Movement Disorders, 1/1/2016
• "A De novo missense mutation in ZMYND11 is associated with global developmental delay, seizures and hypotonia"  
  Moskowitz A,M, Belnap N, Siniard A.L., et al, Cold Spring Harbor Molecular Case Studies, 1/1/2016
• "KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients"  
  Millichap JJ, Park K, Tsuchida T, et al, Neurology Genetics, 1/1/2016
• "A De Novo mutation in TEAD1 causes non-X linked Aicardi Syndrome"  
  Schrauwen I, Szelinger S, Siniard AL, Corneveaux JJ, Kurdoglu A, Richholt R, DeBoth M, Malencia I, Swaminathan, S, Rangasamy S, Kulkarni N, Bernes S, Buchhalter J, Ram..., Investigative Ophthalmology and Visual Science, 1/1/2015
• "A frame-shift mutation in CAV1 is associated with a severe neonatal progeroid and lipodystrophy syndrome"  
  Schrauwen I, Szelinger S, Siniard AL, Kurdoglu A, Corneveaux JJ, Malencia I, Richholt R, van Camp G, DeBoth M, Swaminathan, S, Turk M, Ramsey K, Craig DW, Narayanan V,..., PLOS One, 1/1/2015
• "High incidence of Noonan Syndrome features, including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting pArg1809: Genotype-phe...  
  Rojnueangnit K, Xie J, Gomes A, et al, Human Mutation, 1/1/2015
• "Electrophysiological phenotypes of MeCP2 A140V mutant mouse model"  
  Ma L-Y, Wu C, Jin Y, Gao M, Li G-H, Turner D, Shen J-X, Zhang S-J, Narayanan V, Jentarra G, Wu J, CNS Neuroscience and Therapeutics, 1/1/2014
• "Epigenetics, autism spectrum, and neurodevelopmental disorders"  
  Rangasamy S, D'Mello SR, Narayanan V, Neurotherapeutics, 1/1/2013
• "Simultaneous recordings of ocular microtremor and microsaccades with a piezoelectric sensor and a video-oculography system"  
  McCamy MB, Collins N, Otero-Millan J, Al-Kabani M, Macknick SL, Coakley D, Troncoso XG, Boyle G, Narayanan V, Wolf TR, Martinez-Conde S, PeerJ, 1/1/2013
• "Isoform-specific toxicity of Mecp2 in postmitotic neurons: suppression of neurotoxicity by FoxG1"  
  Dastidar SG, Bardai FH, Ma C, Price V, Rawat V, Verma P, Narayanan V, D'Mello SR, J Neuroscience, 1/1/2012
• "Skewed allele-specific expression of the NF1 gene in normal subjects: A possible mechanism for phenotypic variability in NF1"  
  Jentarra GM, Rice SG, Olfers SS, Rajan C, Saffen DM, Narayanan V, Journal of Child Neurology, 1/1/2011
• "Genetics and Child Neurology: What every trainee/resident should know"  
  Narayanan V, Seminars in Pediatric Neurology, 1/1/2011
• "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): Compound heterozygotes for nonsense mutations of the SACS gene"  
  Narayanan V, Rice SG, Ofers SS, Sivakumar K, Journal of Child Neurology, 1/1/2011
• "Evidence for population variation in TSC1 and TSC2 gene expression"  
  Jentarra GM, Rice SG, Olfers S, Saffen D, Narayanan V, BMC Medical Genetics, 1/1/2011
• "Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation"  
  Jentarra GM, Olfers SS, Rice SG, Srivastava N, Homanics GE, Blue M, Naidu S, Narayanan V, BMC Neuroscience, 1/1/2010
• "Clinical and mutational spectrum of Neurofibromatosis Type 1-like syndrome"  
  Messiaen L, Yao S, Brems H, et al, JAMA, 1/1/2009
• "Ataxia with oculomotor apraxia"  
  Liu W, Narayanan V, Seminars in Pediatric Neurology, 1/1/2008
• "Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus"  
  Craig DW, Itty A, Panganiban C, Szelinger S, Kruer MC, Sekar A, Reiman D, Narayanan V, Stephan DA, Kerrigan JF, Am J Hum Genetics, 1/1/2008
• "A Novel Mutation of the ARX gene in a Male with Non-syndromic Mental Retardation"  
  Troester MM, Trachtenberg TA, Narayanan V, J Child Neurology, 1/1/2007
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Books/Book Chapters

• Swaiman's Pediatric Neurology: Principles and Practice 
  Chapter: "Cellular and Animal Models of Neurological Disease" 
  Rangasamy S, Narayanan M, Schrauwen I, Muotri A, Narayanan VEditors: K Swaiman, S Ashwal, D Ferriero, N Schor.Edition 6th,2015
• Current Management in Child Neurology 
  Chapter: "Hereditary Neuropathy" 
  Page 391 - 398Sivakumar, K, and Narayanan, V.Editors: Maria, B.L..Edition 3rd,2005
• Current Therapy in Neurological Diseases 
  Chapter: "An approach to the evaluation of patients with the tuberous sclerosis complex" 
  Bodensteiner, JB, and Narayanan, V.Editors: RT Johnsons, JW Griffin, JC McCarthur.2005
• Conn's Current Therapy 2000 
  Chapter: "Viral Meningitis and Encephalitis" 
  Page 894 - 896Narayanan, V.Editors: Rakel, R.E..W.B. Saunders Co., Philadelphia, PA2000
• Apoptosis in Neurobiology 
  Chapter: "Cell Death in the Developing Nervous System" 
  Page 13 - 22Narayanan, V.Editors: Y.A., and Boustany, R-M..CRC Press LLC, Boca Raton, FL1999
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Abstracts/Posters

• Neurodegeneration associated with WDR45 mutation in a brother and sister: BPAN (beta-propeller protein-associated neurodegeneration) due to maternal gonadal mosaicism.
  Szelinger S, et al, Annual Meeting of the American College of Medical Genetics, 1/1/2015
• Development of an in vitro assay using cerebellar granule neurons for therapeutic screens in Rett syndrome.
  Rangasamy S, Snyder S, Yin H, Narayanan V, Annual Meeting of the Society for Neuroscience, 1/1/2014
• Diagnostic sequencing in integrated clinical and research laboratory setting for 100 families at the Dorrance Center for Rare Childhood Disorders.
  Szelinger S, Ramsey KM, Siniard A, Schrauwen I, Corneveaux JJ, Kurdoglu A, Krate J, Malenica I, Richholt R, Rangasamy S, Huentelman M, Narayanan V, Craig DW, Annual Meeting of the American Society of Human Genetics, 1/1/2014
• Congenital Myasthenia Syndrome: Uniparental disomy of chromosome 2 and homozygous mutation of GFPT1.
  Rangasamy S, Szelinger S, Ramsey K, Krate J, Corneveaux JJ, Schrauwen I, Siniard A, Kurdoglu A, Richholt R, de Both M, Swaminathan S, Huentelman M, Craig D, Narayanan V, Annual Meeting of the American Society of Human Genetics, 1/1/2014
• Missense mutations of DST (encoding dystonin) cause neonatal feeding difficulty, hypotonia, dystonia, choreoathetosis and hypoalgesia.
  Narayanan V, Ramsey K, Narayanan M, Rangasamy S, Szelinger S, Corneveaux JJ, Schrauwen I, Siniard A, Kurdoglu A, Richholt R, de Both M, Swaminathan S, Huentelman M, Cr..., Annual Meeting of the Child Neurology Society, 1/1/2014
• A heterozygous frame-shift mutation in CAV1 causes a severe congenital lipodystrophy syndrome.
  Schrauwen I, Szelinger S, Siniard A, Kurdoglu A, Corneveaux J, Malencia I, Craig D, Narayanan V, Huentelman M, Annual Meeting of the European Society for Human Genetics, 1/1/2013
• Molecular regulation of neuronal size in MeCP2 A140V mutant mice.
  Rangasamy S, Olfers S, Narayanan V, Annual Meeting of the Society for Neuroscience, 1/1/2013
• Aicardi-Goutieres Syndrome: Phenotypic variability and diagnosis in a series of cases using whole exome and RNA sequencing.
  Narayanan V, Szelinger S, Corneveaux JJ, Schrauwen I, Siniard AL, Kurdoglu AA, Malencia I, Ramsey K, Craig D, Huentelman MJ, Narayanan V, Szelinger S, Corneveaux JJ, Schrauwen I, Siniard AL, Kurdoglu AA, Malencia I, Ramsey K, Craig D, Huentelman MJ, 1/1/2013
• Rett syndrome, MeCP2, Rictor, and neuronal size.
  Rangasamy S, Olfers SS, Yin H, Narayanan V, Annual Meeting of the Child Neurology Society, 1/1/2013
• Studies in female MeCP2 A140V mice: morphology of neurons expressing wild-type vs. mutant MeCP2.
  Rangasamy S, Snyder S, Jentarra G, Rice G, Narayanan V, Annual Meeting of the Society for Neuroscience, 1/1/2012
• Genomic microarrays in a cohort of developmentally delayed children with and without epilepsy.
  Pati S, Deep A, Narayanan V, Annual Meeting of the Southern Pediatric Neurology Society, 1/1/2011
• ARSACS: Genetic and molecular studies in the first reported American family.
  Rice SG, Olfers SS, Narayanan V, Annual Meeting of the Southern Pediatric Neurology Society, 1/1/2011
• The temporal course of development of dendrite pathology in MeCP2 A140V "knock-in" mutant mice.
  Jentarra GJ, Olfers SS, Rice SG, Naidu S, Narayanan V, Annual Meeting of the Society for Neuroscience, 1/1/2010
• Axonal transport defect in the Nf1-/+ mice: a manganese-enhanced MRI study.
  Bennett K, Olfers SS, Narayanan V, Annual Meeting of the Child Neurology Society, 1/1/2010
• Evaluation of developmental abnormalities of dendritic structure and protein pathways in MeCP2 A140V "knock-in" mutant mice.
  Jentarra GJ, Olfers SS, Rice SG, Naidu S, Narayanan V, International Rett Syndrome Foundation, Annual Meeting, 1/1/2010
• Complete spontaneous regression of optic pathway glioma in NF1.
  Park C, Karis J, Narayanan V, CTF Annual Meeting, 1/1/2010
• Developmental analysis of dendrite structure in the MeCP2 A140V "knock-in" mutant mouse model of Rett/XLMR.
  Jentarra GM, Olfers SS, Rice SG, Homanics G, Naidu S, Narayanan V, International Rett Syndrome Foundation Meeting, 1/1/2009
• Hyperekplexia: Case presentation of a "stiff baby" and review of pathophysiology.
  Jayakody H, Park C, Narayanan V, Southern Pediatric Neurology Society, 1/1/2009
• "Allelic expression imbalance (AEI) of the NF1 gene"
  Rajan C, Rice SG, Olfers SS, Jentarra GJ, Narayanan V, Barrow Neurological Institute, Summer Student Presentation, Phoenix, AZ, 1/1/2009
• Allelic expression imbalance (AEI) and variability of phenotype in tuberous sclerosis complex.
  Jentarra GM, Rice SG, Olfers SS, Narayanan V, Society for Neuroscience, 1/1/2008
• Allelic expression imbalance (AEI) of the TSC genes.
  Rice SG, Jentarra G, Snyder S, Narayanan V, Child Neurology Society, 1/1/2008
• Intractable childhood absence epilepsy in siblings with connexin-26 gene mutation.
  Chapman K, Narayanan V, Aleck K, Child Neurology Society, 1/1/2008
• Allelic expression imbalance (AEI) and variability of phenotype in tuberous sclerosis complex.
  Jentarra GJ, Rice SG, Olfers SS, Narayanan V, Southern Pediatric Neurology Society Meeting, 1/1/2008
• Axonal transport in the Nf1-/+ knock-put mouse.
  Snyder S, Rice, SG, Jentarra G, Vallejo J, Narayanan V, Children's Tumor Foundation NF Meeting, Park City, UT, 1/1/2007
• Leukoencephalopathy in Ataxia Oculomotor Apraxia.
  Liu W, Troester M, Narayanan V, Annual Meeting of the Southern Pediatric Neurology Society, New Orleans, LA, 1/1/2007
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Lectures

• Neurogenomics Approach to the Diagnosis of Neurological Disorders 
  1/12/2016
• Genetics and Epilepsy 
  Phoenix Children's Hospital - 1/18/2015
• Rett Syndrome: Bench to Bedside 
  1/29/2014
• Neurogenetics. 
  University of Arizona College of Medicine, Phoenix, AZ - 1/28/2014
• Percent Effort: Life of a Clinician Scientist 
  LSU-Health Sciences Center, New Orleans, LA - 1/14/2011
• Developmental Delay "Plus" 
  Tucson Medical Center, Tucson, AZ - 1/30/2010
• Neurobiology of Mental Retardaton: Lessons from Fragile X Syndrome 
  St. Joseph's Hospital and Medical Center, Phoenix, AZ - 1/5/2010
• Neurogenetics 
  University of Arizona College of Medicine, Phoenix, AZ - 1/1/2010
• Neurogenetic Syndromes: A to Z 
  St. Joseph's Hospital and Medical Center, Phoenix, AZ - 1/1/2010
• Ras/MAPK Signaling and Neuro-Cardio-Facial-Cutaneous Syndromes. 
  St. Joseph's Hospital and Medical Center, Phoenix, AZ - 1/1/2009
• Neurocutaneous Syndromes: Tuberous Sclerosis Complex and NF1 
  Sedona, AZ - 1/1/2009
• Neurocutaneous Syndromes 
  1/1/2009
• Rett Syndrome-Update 
  St. Joseph's Hospital and Medical Center, Phoenix, AZ - 1/1/2009
• Neurobiology of Rett syndrome and Fragile X syndrome. 
  Arizona State University, Tempe, AZ - 1/1/2008
• Peroxisomes and Peroxisomal Disorders. 
  St. Joseph's Hospital and Medical Center, Phoenix, AZ - 1/1/2008
• Rett Syndrome: Relating Gene Mutation to Brain Dysfunction. 
  Kosair Children's Hospital, Norton Healthcare, Louisville, KY - 1/1/2008
• Disorders of Cerebellar Development. 
  St. Joseph's Hospital and Medical Center, Phoenix, AZ - 1/1/2008
• Genetic and Molecular Basis of Epilepsy Syndromes. 
  Cook Children's Hospital, Fort Worth, TX - 1/1/2007
• Disorders of Neural Development. 
  Arizona State University - 1/1/2007
• Tuberous Sclerosis and Neurofibromatosis. 
  Apollo Hospital, Madurai, India - 1/1/2007
• Neurocutaneous Syndromes. 
  St. Joseph's Hospital and Medical Center, Phoenix, AZ - 1/1/2006
• Neurocutaneous Disorders. 
  Fortis Escorts Hospital and Research Center, Faridabad, India - 1/1/2006
• Tuberous Sclerosis: Clinical Features, Genetics, and Pathogenesis. 
  Jawaharlal Institute of Post-Graduate Medical Education and Research, Pondicherry, India - 1/1/2006
• Neurobiology of Selected Genetic Disorders. 
  1/1/2006
• Clinical Aspects of Neurogenetics. 
  Phoenix, AZ - 1/1/2006
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Other

• "Reduced Neuronal Size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse model" 
  Rangasamy S, Olfers SL, Gerald B, Hilbert A, Svejda S, Narayanan V, F1000 Research
  1/1/2016
• Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities. 
  Narayanan M, Ramsey K, Grebe T et al, F1000 Research
  1/1/2015