Publications Print Mrugala MM, Dhamija R, Moertel CL, Hirbe AC, Shuhaiber HH, Bielamowicz K, Sidhu A, Viskochil D, Weber MD, Lokku A, Smith LM, Foreman NK, Hajjar FM, McNall-Knapp RY, Weintraub L, Antony R, Franson AT, Meade J, Schiff D, Walbert T, Ambady P, Bota DA, Campen CJ, Kaur G, Klesse LJ, Maraka S, Moots PL, Nevel K, Bornhorst M, Aguilar-Bonilla A, Chagnon S, Dalvi N, Gupta P, Khatib Z, Metrock LK, Nghiemphu PL, Roberts RD, Robison NJ, Sadighi Z, Stapleton S, Babovic-Vuksanovic D, Gershon TR, ReNeu Trial Investigators//ReNeu Study Investigators. ReNeu: A Pivotal, Phase IIb Trial of Mirdametinib in Adults and Children With Symptomatic Neurofibromatosis Type 1-Associated Plexiform Neurofibroma. J Clin Oncol. 2025 Feb 20; 43 (6):716-729 Epub 2024 Nov 08 View PubMed Farina JM, Olson RJ, Dhamija R, Bofferding A, Sekulic A, Egan JB, Jaroszewski DE. The Complexity of Familial Inheritance in Pectus Excavatum: A Ten-Family Exome Sequencing Analysis. Genes (Basel). 2024 Nov 1; 15 (11) Epub 2024 Nov 01 View PubMed Wilke MVMB, Klee EW, Dhamija R, Fervenza FC, Thomas B, Leung N, Hogan MC, Hager MM, Kolbert KJ, Kemppainen JL, Loftus EC, Leitzen KM, Vitek CR, McAllister T, Lazaridis KN, Pinto E Vairo F. Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases. Orphanet J Rare Dis. 2024 May 24; 19 (1):216 View PubMed Ferrer A, Duffy P, Olson RJ, Meiners MA, Schultz-Rogers L, Macke EL, Safgren S, Morales-Rosado JA, Cousin MA, Oliver GR, Rider D, Williams M, Pichurin PN, Deyle DR, Morava E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Kaiwar C, Vitek CR, McAllister TM, Wick MJ, Schimmenti LA, Lazaridis KN, Vairo FPE, Klee EW. Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data. Hum Genet. 2024 May; 143 (5):649-666 Epub 2024 Mar 27 View PubMed Pinto E Vairo F, Kemppainen JL, Vitek CRR, Whalen DA, Kolbert KJ, Sikkink KJ, Kroc SA, Kruisselbrink T, Shupe GF, Knudson AK, Burke EM, Loftus EC, Bandel LA, Prochnow CA, Mulvihill LA, Thomas B, Gable DM, Graddy CB, Garzon GGM, Ekpoh IU, Porquera EMC, Fervenza FC, Hogan MC, El Ters M, Warrington KJ, Davis JM 3rd, Koster MJ, Orandi AB, Basiaga ML, Vella A, Kumar S, Creo AL, Lteif AN, Pittock ST, Tebben PJ, Abate EG, Joshi AY, Ristagno EH, Patnaik MS, Schimmenti LA, Dhamija R, Sabrowsky SM, Wierenga KJ, Keddis MT, Samadder NJJ, Presutti RJ, Robinson SI, Stephens MC, Roberts LR, Faubion WA Jr, Driscoll SW, Wong-Kisiel LC, Selcen D, Flanagan EP, Ramanan VK, Jackson LM, Mauermann ML, Ortega VE, Anderson SA, Aoudia SL, Klee EW, McAllister TM, Lazaridis KN. Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD). J Transl Med. 2024 Apr 30; 22 (1):400 View PubMed Pinto E Vairo F, Kemppainen JL, Vitek CRR, Whalen DA, Kolbert KJ, Sikkink KJ, Kroc SA, Kruisselbrink T, Shupe GF, Knudson AK, Burke EM, Loftus EC, Bandel LA, Prochnow CA, Mulvihill LA, Thomas B, Gable DM, Graddy CB, Garzon GGM, Ekpoh IU, Porquera EMC, Fervenza FC, Hogan MC, El Ters M, Warrington KJ, Davis JM 3rd, Koster MJ, Orandi AB, Basiaga ML, Vella A, Kumar S, Creo AL, Lteif AN, Pittock ST, Tebben PJ, Abate EG, Joshi AY, Ristagno EH, Patnaik MS, Schimmenti LA, Dhamija R, Sabrowsky SM, Wierenga KJ, Keddis MT, Samadder NJJ, Presutti RJ, Robinson SI, Stephens MC, Roberts LR, Faubion WA Jr, Driscoll SW, Wong-Kisiel LC, Selcen D, Flanagan EP, Ramanan VK, Jackson LM, Mauermann ML, Ortega VE, Anderson SA, Aoudia SL, Klee EW, McAllister TM, Lazaridis KN. Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD). J Transl Med. 2023 Jun 23; 21 (1):410 Epub 2023 June 23 View PubMed Houghton OM, Carter J, Dhamija R. Retinal Vasculopathy With Cerebral Leukoencephalopathy and Systemic Manifestations: Critical Role of Retina Specialists. J Vitreoretin Dis. 2023 Mar-Apr; 7 (2):171-177 Epub 2022 Dec 03 View PubMed 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. 2023 Feb; 25 (2):100359 View PubMed Muthusamy K, Sivadasan A, Dixon L, Sudhakar S, Thomas M, Danda S, Wszolek ZK, Wierenga K, Dhamija R, Gavrilova R. Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions. Front Neurol. 2023; 14:1219324 Epub 2023 July 26 View PubMed Valencia-Sanchez C, Wingerchuk DM, Dhamija R. Teaching NeuroImages: Spinal xanthomatosis: A misdiagnosed, treatable cause of progressive myelopathy. Neurology. 2023; 100 (16):S234-5 Muthusamy K, El-Jabali A, Ongie LJ, Dhamija R, Babovic-Vuksanovic D. Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums. Am J Med Genet A. 2022 Mar; 188(3):911-918. Epub 2021 Nov 19. View PubMed Blech B, Dhamija R, Ingall T. Marfan Syndrome Presenting as Spontaneous Coronary Artery Dissection and Arteriopathy. Neurologist. 2021 Nov 26; 27 (1):34-36 View PubMed 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 View PubMed 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 View PubMed 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 View PubMed 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. View PubMed 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 View PubMed 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 View PubMed 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 View PubMed 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 View PubMed 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 View PubMed 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 View PubMed 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 View PubMed 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 View PubMed 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 View PubMed Moseley BD, Smith JH, Dhamija RR, Jones LK Jr. Primary Angiitis of the Central Nervous System Presenting with Microhemorrhages on Gradient Echo Imaging. Neurol India 2019 Sep-Oct; 67 (5):1374-1375 View PubMed 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 View PubMed 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 View PubMed 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 View PubMed 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 View PubMed 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 View PubMed 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 View PubMed 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 View PubMed 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 View PubMed 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 View PubMed 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 View PubMed Guha R, Miley L, Aspiri M, Dhamija R. Congenital Toxoplasmosis. Pediatr Neurol. 2017 May; 70:81-82. View PubMed 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. View PubMed 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; 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 View PubMed 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 View PubMed Kumar M, Chambers C, Dhamija R. Axenfeld-Rieger Syndrome and Leukoencephalopathy Caused by a Mutation in FOXC1. Pediatr Neurol. 2016 Sep 9; View PubMed 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. View PubMed Chambers C, Jansen LA, Dhamija R. Review of Commercially Available Epilepsy Genetic Panels. J Genet Couns. 2016 Apr; 25: (2)213-7. View PubMed Dhamija R, Mink JW, Shah BB, Goodkin HP. GNAO1-Associated Movement Disorder. Move Disord Clin Pract.2016 Mar; Dhamija R, Chambers C. Clinical and Molecular Characterization of ALG1-CDG. Pediatr Neurol Briefs. 2016 Feb; 30: (2)14. View PubMed 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. View PubMed 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. View PubMed 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. View PubMed Dhamija R, Chambers C. Diagnostic NGS for Severe Neuromuscular Disorders. Pediatr Neurol Briefs. 2015 Nov; 29: (11)82. View PubMed 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. View PubMed Kumar M, Dhamija R. Teaching NeuroImages: Neurocutaneous melanosis. Neurology. 2015 Jun 16; 84: (24)e207. View PubMed 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 View PubMed Dhamija R, Bodensteiner JB. Recurrent episodes of weak spells in a 15-year-old boy. Semin Pediatr Neurol. 2014 Jun; 21: (2)91-4. View PubMed Dhamija R, Kirmani S. A 7-year-old girl with hypertrophic cardiomyopathy and progressive scoliosis. Semin Pediatr Neurol. 2014 Jun; 21 (2):67-71 Epub 2014 Apr 03 View PubMed 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. View PubMed 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. View PubMed 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. View PubMed 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 Epub 2013 June 18 View PubMed 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. View PubMed Nelson A, Dhamija R, Nickels K. Posttransplant lymphoproliferative disorder in an 11-year-old immunosuppressed boy. Pediatr Neurol. 2013 May; 48 (5):397-9 View PubMed Dhamija R, Eckert S, Wirrell E. Ketogenic diet. Can J Neurol Sci. 2013 Mar; 40 (2):158-67 View PubMed Dhamija R, Raymond GV, Gavrilova R. Clinical reasoning: a 56-year-old man with progressive spasticity. Neurology. 2013 Feb 26; 80 (9):e84-8 View PubMed 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 View PubMed 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. View PubMed 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 View PubMed 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. View PubMed 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. View PubMed 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. View PubMed 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 View PubMed 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. View PubMed 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. View PubMed 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. View PubMed 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 View PubMed 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 View PubMed 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 View PubMed Dhamija R, Keating G. Teaching NeuroImages: CT scan of congenital cytomegalovirus infection. Neurology. 2011 Jan 18; 76: (3)e13. View PubMed 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. View PubMed 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 View PubMed Dhamija R, Verma R. Diabetic ketoacidosis induced by aripiprazole in a 12-year-old boy. Diabetes Care. 2008 Jun; 31: (6)e50. View PubMed 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. View PubMed Dhamija R, Bannon S. QT prolongation with methadone. Indian J Crit Care Med. 2008 Jan; 12: (1)46-7. View PubMed Dhamija R, Babovic-Vuksanovic D. FGFR1-Related Hartsfield Syndrome Adam MP//Ardinger HH//Pagon RA//Wallace SE//Bean LJH//Gripp KW//Mirzaa GM//Amemiya A editor.GeneReviews((R)) Seattle (WA) University of Washington, Seattle 1993 View PubMed PST-20305638 Home Publications