Publications

  1. Morales-Rosado JA, Singh H, Olson RJ, Larsen BT, Hager MM, Klee EW, Dhamija R. Recurrent ganglioneuroma in PTPN11-associated Noonan syndrome: A case report and literature review. Am J Med Genet A. 2021 Jun; 185 (6):1883-1887 Epub 2021 Mar 29
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  2. Guenzel AJ, DeBarber A, Raymond K, Dhamija R. Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings. JIMD Rep. 2021 May; 59 (1):3-9 Epub 2021 Jan 08
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  3. Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN. Impact of integrated translational research on clinical exome sequencing. Genet Med. 2021 Mar; 23 (3):498-507 Epub 2020 Nov 04
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  4. Muthusamy K, Fasolino JP, Driver-Dunckley ED, Dhamija R. Ekbom Syndrome: Ataxia, Myoclonus, and Cervical Lipomas. Ann Neurol. 2021 Mar; 89(3):623-624. Epub 2021 Jan 04.
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  5. Muthusamy K, Mrugala MM, Bendok BR, Dhamija R. LZTR1-related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis. Mol Genet Genomic Med. 2021 Jan; 9 (1):e1560 Epub 2020 Dec 02
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  6. Valencia-Sanchez C, Wingerchuk DM, Dhamija R. Teaching NeuroImages: Spinal xanthomatosis: A misdiagnosed, treatable cause of progressive myelopathy. Neurology. 2020 Sep 15; 95 (11):e1615-e1616 Epub 2020 July 07
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  7. Morales-Rosado JA, Macke EL, Cousin MA, Oliver GR, Dhamija R, Klee EW. Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia. Mol Genet Genomic Med. 2020 Sep; 8 (9):e1341 Epub 2020 June 29
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  8. Pines AR, Rodriguez D, Bendok BR, Dhamija R. Clinical Characteristics of Moyamoya Angiopathy in a Pediatric Cohort. J Child Neurol. 2020 May; 35 (6):389-392 Epub 2020 Feb 24
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  9. Gilbert MA, Schultz-Rogers L, Rajagopalan R, Grochowski CM, Wilkins BJ, Biswas S, Conlin LK, Fiorino KN, Dhamija R, Pack MA, Klee EW, Piccoli DA, Spinner NB. Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease. Hum Mutat. 2020 May; 41 (5):973-982 Epub 2020 Feb 06
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  10. Dhamija R, Hoxworth JM. Imaging of PTEN-related abnormalities in the central nervous system. Clin Imaging. 2020 Apr; 60 (2):180-185 Epub 2019 Dec 24
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  11. Mahdi L, Kahn A, Dhamija R, Vargas HE. Hepatic Steatosis Resulting From LMNA-Associated Familial Lipodystrophy. ACG Case Rep J. 2020 Apr; 7 (4):e00375 Epub 2020 Apr 07
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  12. Schultz-Rogers L, Ferrer A, Dsouza NR, Zimmermann MT, Smith BE, Klee EW, Dhamija R. Novel biallelic variants in MSTO1 associated with mitochondrial myopathy. Cold Spring Harb Mol Case Stud. 2019 Dec; 5 (6) Epub 2019 Dec 13
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  13. Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Ounap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Martinez-Agosto JA, Kuismin O, Kurki MI, Pietilainen O, Palotie A, Maarup TJ, Johnson DS, Venborg Pedersen K, Laulund LW, Lynch SA, Blyth M, Prescott K, Canham N, Ibitoye R, Brilstra EH, Shinawi M, Fassi E, Sticht H, Gregor A, Van Esch H, Zweier C, DDD Study. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genet Med. 2019 Dec; 21 (12):2723-2733 Epub 2019 June 26
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  14. Dhamija R, Wood CP, Porter AB, Hu LS, Weindling SM, Hoxworth JM. Updated Imaging Features of Dysplastic Cerebellar Gangliocytoma. J Comput Assist Tomogr. 2019 Mar/Apr; 43 (2):277-281
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  15. Parsons AM, Mehta SH, Acierno MD, Dhamija R. Teaching Video NeuroImages: MT-TL1 mutation presenting as chronic progressive external ophthalmoplegia. Neurology. 2019 Jan 22; 92 (4):e394
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  16. Morales-Rosado JA, Kaiwar C, Smith BE, Klee EW, Dhamija R. A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis. Am J Med Genet A. 2018 Dec; 176 (12):2846-2849 Epub 2018 Dec 14
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  17. Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thevenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carre W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerova J, Lassuthova P, Sterbova K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C. HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. Brain. 2018 Nov 1; 141 (11):3160-3178
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  18. Dhamija R, Weindling SM, Porter AB, Hu LS, Wood CP, Hoxworth JM. Neuroimaging abnormalities in patients with Cowden syndrome: Retrospective single-center study. Neurol Clin Pract. 2018 Jun; 8 (3):207-213
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  19. Williams ES, Barrett MJ, Dhamija R, Toran L, Chambers C, Mahadevan MS, Golden WL. Phase determination using chromosomal microarray and fluorescence in situ hybridization in a patient with early onset Parkinson disease and two deletions in PRKN. Mol Genet Genomic Med. 2018 May; 6 (3):457-462 Epub 2018 Mar 25
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  20. Dahl AR, Dhamija R, Al Nofal A, Pittock ST, Schwenk WF, Kumar S. Transient Neonatal Diabetes due to a Mutation in KCNJ11 in a Child with Klinefelter Syndrome. J Clin Res Pediatr Endocrinol. 2018 Mar 1; 10 (1):79-82 Epub 2017 Aug 02
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  21. Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destree A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernandez-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM. Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. Am J Hum Genet. 2018 Jan 4; 102 (1):69-87 Epub 2017 Dec 28
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  22. Dhamija R, Goodkin HP, Bailey R, Chambers C, Brenton JN. A Case of KCNQ2-Associated Movement Disorder Triggered by Fever. J Child Neurol. 2017 Dec; 32 (14):1123-1124
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  23. Barrett MJ, Williams ES, Chambers C, Dhamija R. Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus. Neurol Genet. 2017 Oct; 3 (5):193 Epub 2017 Sept 25
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  24. Guha R, Miley L, Aspiri M, Dhamija R. Congenital Toxoplasmosis. Pediatr Neurol. 2017 May; 70:81-82.
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  25. Abu Libdeh A, Talman L, Chambers C, Dhamija R. Clinical Reasoning: A 13-year-old boy with chronic ataxia and developmental delay. Neurology. 2017 Mar 28; 88: (13)e116-e121.
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  26. Dahl A, Dhamija R, Nofal A, Pittock S, Schwenk F, Kumar S. Transient Neonatal Diabetes due to a mutation in KCNJ11 in a child with Klinefelter’s Syndrome. Submitted to Neonatal Diabetes.2017;
  27. Conboy E, Vairo F, Waggoner D, Ober C, Das S, Dhamija R, Klee EW, Pichurin P. Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation. Case Rep Genet. 2017; 2017:9184265 Epub 2017 Apr 12
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  28. Shi Y, Dhamija R, Wren C, Wang X, Babovic-Vuksanovic D, Spector E. Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing. Am J Med Genet A 2016 Dec; 170 (12):3359 Epub 2016 Sept 08
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  29. Kumar M, Chambers C, Dhamija R. Axenfeld-Rieger Syndrome and Leukoencephalopathy Caused by a Mutation in FOXC1. Pediatr Neurol. 2016 Sep 9;
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  30. Abu Libdeh A, Matsumoto JA, Dhamija R. Teaching NeuroImages: Intracranial hypotension in a patient with Marfan syndrome. Neurology. 2016 Jul 26; 87: (4)e40-1.
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  31. Chambers C, Jansen LA, Dhamija R. Review of Commercially Available Epilepsy Genetic Panels. J Genet Couns. 2016 Apr; 25: (2)213-7.
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  32. Dhamija R, Mink JW, Shah BB, Goodkin HP. GNAO1-Associated Movement Disorder. Move Disord Clin Pract.2016 Mar;
  33. Dhamija R, Babovic-Vuksanovic D. Hartsfield Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.2016 Mar 3;
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  34. Conboy E, Dhamija R, Wang M, Xie J, Dyck PJ, Bridges AG, Spinner RJ, Clayton AC, Watson RE, Messiaen L, Babovic-Vuksanovic D. Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines. J Med Genet. 2016 Feb; 53: (2)123-6.
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  35. Dhamija R, Chambers C. Clinical and Molecular Characterization of ALG1-CDG. Pediatr Neurol Briefs. 2016 Feb; 30: (2)14.
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  36. Kinariwala D, Yu J, Dhamija R. A Patient With DNMT1 Gene Mutation Presenting With Polyneuropathy, Hearing Loss, and Personality Changes. JAMA Otolaryngol Head Neck Surg. 2016 Feb; 142: (2)193-4.
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  37. Dhamija R, Schiff D, Lopes MB, Jen JC, Lin DD, Worrall BB. Evolution of brain lesions in a patient with TREX1 cerebroretinal vasculopathy. Neurology. 2015 Nov 3; 85: (18)1633-4.
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  38. Dhamija R, Chambers C. Diagnostic NGS for Severe Neuromuscular Disorders. Pediatr Neurol Briefs. 2015 Nov; 29: (11)82.
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  39. Rehman AF, Dhamija R, Williams ES, Barrett MJ. 22q11.2 deletion syndrome presenting with early-onset Parkinson's disease. Mov Disord. 2015 Aug; 30: (9)1289-90.
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  40. Kumar M, Dhamija R. Teaching NeuroImages: Neurocutaneous melanosis. Neurology. 2015 Jun 16; 84: (24)e207.
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  41. Dhamija R, Kirmani S, Wang X, Ferber MJ, Wieben ED, Lazaridis KN, Babovic-Vuksanovic D. Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. Am J Med Genet A. 2014 Sep; 164A (9):2356-9 Epub 2014 May 28
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  42. Dhamija R, Bodensteiner JB. Recurrent episodes of weak spells in a 15-year-old boy. Semin Pediatr Neurol. 2014 Jun; 21: (2)91-4.
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  43. Dhamija R, Kirmani S. A 7-year-old girl with hypertrophic cardiomyopathy and progressive scoliosis. Semin Pediatr Neurol. 2014 Jun; 21: (2)67-71.
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  44. Dhamija R, Erickson MK, St Louis EK, Wirrell E, Kotagal S. Sleep abnormalities in children with Dravet syndrome. Pediatr Neurol. 2014 May; 50(5):474-8. Epub 2014 Jan 07.
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  45. Dhamija R, Graham JM Jr, Smaoui N, Thorland E, Kirmani S. Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum. Eur J Med Genet. 2014 Mar; 57(4):181-4. Epub 2014 Feb 27.
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  46. Dhamija R, Wirrell E, Falcao G, Kirmani S, Wong-Kisiel LC. Novel de novo SCN2A mutation in a child with migrating focal seizures of infancy. Pediatr Neurol. 2013 Dec; 49(6):486-8. Epub 2013 Aug 26.
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  47. Dhamija R, Wetjen NM, Slocumb NL, Mandrekar J, Kotagal S. The role of nocturnal polysomnography in assessing children with Chiari type I malformation. Clin Neurol Neurosurg. 2013 Sep; 115: (9)1837-41.
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  48. Dhamija R, Waltman L, Hoppman N, Kirmani S. Septo-optic dysplasia in a patient with an unbalanced 5;12 translocation. Pediatr Neurol. 2013 Jul; 49: (1)e2-3.
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  49. Nelson A, Dhamija R, Nickels K. Posttransplant lymphoproliferative disorder in an 11-year-old immunosuppressed boy. Pediatr Neurol. 2013 May; 48 (5):397-9
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  50. Dhamija R, Eckert S, Wirrell E. Ketogenic diet. Can J Neurol Sci. 2013 Mar; 40 (2):158-67
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  51. Dhamija R, Raymond GV, Gavrilova R. Clinical reasoning: a 56-year-old man with progressive spasticity. Neurology. 2013 Feb 26; 80 (9):e84-8
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  52. Moseley BD, Smith JH, Diaz-Medina GE, Paz Soldan MM, Wicklund M, Dhamija R, Reda H, Presti MF, Britton JW. Standardized sign-out improves completeness and perceived accuracy of inpatient neurology handoffs. Neurology. 2012 Sep 4; 79(10):1060-4. Epub 2012 Aug 8
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  53. Dhamija R, Patterson MC, Wirrell EC. Epilepsy in children--when should we think neurometabolic disease? J Child Neurol. 2012 May; 27(5):663-71. Epub 2012 Feb 28.
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  54. Moseley BD, Dhamija R, Wirrell EC, Nickels KC. Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. Pediatr Neurol. 2012 Feb; 46 (2):101-5
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  55. Moseley BD, Dhamija R, Wirrell EC. The cessation of continuous spike wave in slow-wave sleep following a temporal lobectomy. J Child Neurol. 2012 Jan; 27(1):113-6. Epub 2011 Aug 23.
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  56. Verma R, Dhamija R, Leeburg WT, Rafi M, Loehrke ME. Burkitt lymphoma presenting as ptosis in a man with human immunodeficiency virus. Am J Med Sci. 2011 Nov; 342(5):427-8.
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  57. Dhamija R, Gavrilova RH, Wirrell EC. Valproate-induced worsening of seizures: clue to underlying diagnosis. J Child Neurol. 2011 Oct; 26(10):1319-21. Epub 2011 Mar 31.
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  58. Dhamija R, Moseley BD, Cascino GD, Wirrell EC. A population-based study of long-term outcome of epilepsy in childhood with a focal or hemispheric lesion on neuroimaging. Epilepsia. 2011 Aug; 52 (8):1522-6 Epub 2011 July 18
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  59. Smith JH, Dhamija R, Moseley BD, Sandroni P, Lucchinetti CF, Lennon VA, Kantarci OH. N-methyl-D-aspartate receptor autoimmune encephalitis presenting with opsoclonus-myoclonus: treatment response to plasmapheresis. Arch Neurol. 2011 Aug; 68(8):1069-72.
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  60. Dhamija R, Mack KJ. A 2-day-old baby girl with encephalopathy and burst suppression on EEG. Nonketotic hyperglycinemia. Neurology. 2011 Jul 19; 77(3):e16-9.
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  61. Dhamija R, Breningstall G, Wong-Kisiel L, Dolan M, Hirsch B, Wirrell E. Microdeletion of chromosome 15q26.1 in a child with intractable generalized epilepsy. Pediatr Neurol. 2011 Jul; 45(1):60-2.
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  62. Dhamija R, Nickels KC, Calero A, Doraiswamy B, Rosenberg J, Kizilbash SH, Kizilbash SJ, Agrawal R. Case 1: Foot deformities, asymmetric calf muscles, and frequent falls in an 8-year-old boy. Case 2: Seizures in a 5-month-old boy whose mother recently emigrated from Honduras. Case 3: A gradually increasing perianal mass in a teenage girl. Pediatr Rev. 2011 Apr; 32 (4):163-8
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  63. Dhamija R, Renaud DL, Pittock SJ, McKeon A, Lachance DH, Nickels KC, Wirrell EC, Kuntz NL, King MD, Lennon VA. Neuronal voltage-gated potassium channel complex autoimmunity in children. Pediatr Neurol. 2011 Apr; 44(4):275-81.
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  64. Dhamija R, Moseley BD, Wirrell EC. Clinical reasoning: a 10-month-old boy with myoclonic status epilepticus. Neurology. 2011 Feb 1; 76 (5):e22-5
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  65. Dhamija R, Keating G. Teaching NeuroImages: CT scan of congenital cytomegalovirus infection. Neurology. 2011 Jan 18; 76: (3)e13.
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  66. Verma R, Dhamija R. Disseminated Mycobacterium avium-intracellulare infection presenting as multiple ring-enhancing lesions on brain MRI. Mayo Clin Proc. 2009 May; 84(5):394.
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  67. Dhamija R, Tan KM, Pittock SJ, Foxx-Orenstein A, Benarroch E, Lennon VA. Serologic profiles aiding the diagnosis of autoimmune gastrointestinal dysmotility. Clin Gastroenterol Hepatol. 2008 Sep; 6 (9):988-92 Epub 2008 July 02
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  68. Dhamija R, Verma R. Diabetic ketoacidosis induced by aripiprazole in a 12-year-old boy. Diabetes Care. 2008 Jun; 31: (6)e50.
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  69. Singhania N, Dhamija R, Lodha R, Kabra SK. Salmeterol vs. formoterol: a comparison of rapid bronchodilator effect in a randomized controlled trial. Indian Pediatr. 2008 Mar; 45: (3)225-8.
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  70. Dhamija R, Bannon S. QT prolongation with methadone. Indian J Crit Care Med. 2008 Jan; 12: (1)46-7.
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