Publications

  1. Vairo FP, Boczek NJ, Cousin MA, Kaiwar C, Blackburn PR, Conboy E, Lanpher BC, Gavrilova RH, Pichurin PN, Lazaridis KN, Babovic-Vuksanovic D, Klee EW. The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients. Mol Genet Metab Rep. 2017 Dec; 13:46-51 Epub 2017 Aug 11
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  2. Marom R, Jain M, Burrage LC, Song IW, Graham BH, Brown CW, Stevens SJC, Stegmann APA, Gunter AT, Kaplan JD, Gavrilova RH, Shinawi M, Rosenfeld JA, Bae Y, Tran AA, Chen Y, Lu JT, Gibbs RA, Eng C, Yang Y, Rousseau J, de Vries BBA, Campeau PM, Lee B. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017 Oct; 38 (10):1365-1371 Epub 2017 July 10
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  3. Masnada S, Hedrich UBS, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH, Synofzik M, Bast T, Gorman K, King MD, Allen NM, Conroy J, Ben Zeev B, Tzadok M, Korff C, Dubois F, Ramsey K, Narayanan V, Serratosa JM, Giraldez BG, Helbig I, Marsh E, O'Brien M, Bergqvist CA, Binelli A, Porter B, Zaeyen E, Horovitz DD, Wolff M, Marjanovic D, Caglayan HS, Arslan M, Pena SDJ, Sisodiya SM, Balestrini S, Syrbe S, Veggiotti P, Lemke JR, Moller RS, Lerche H, Rubboli G. Clinical spectrum and genotype-phenotype associations of kcna2-related encephalopathies Brain. 2017 Sep; 140:2337-54.
  4. Mansukhani S, Ho ML, Gavrilova RH, Mohney BG, Quiram PA, Brodsky MC. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) or "Coats Plus": when peripheral retinal vasculature signals neurologic disease. J AAPOS. 2017 Aug 31 [Epub ahead of print]
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  5. Garland J, Stephen J, Class B, Gruber A, Ciccone C, Poliak A, Hayes CP, Singhal V, Slota C, Perreault J, Gavrilova R, Shrader JA, Chittiboina P, Joe G, Heiss J, Gahl WA, Huizing M, Carrillo N, Malicdan MCV. Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy. Mol Genet Genomic Med. 2017 Jul; 5 (4):410-417 Epub 2017 June 14
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  6. Boczek NJ, Kruisselbrink T, Cousin MA, Blackburn PR, Klee EW, Gavrilova RH, Lanpher BC. Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype. Am J Med Genet A. 2017 May; 173: (5)1328-1333.
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  7. Blackburn PR, Tischer A, Zimmermann MT, Kemppainen JL, Sastry S, Knight Johnson AE, Cousin MA, Boczek NJ, Oliver G, Misra VK, Gavrilova RH, Lomberk G, Auton M, Urrutia R, Klee EW. A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding. J Biol Chem. 2017 Mar 03; 292: (9)3866-3876.
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  8. Codipilly DC, Gavrilova RH, Tangalos EG. De novo 2p16.1 microdeletion with metastatic esophageal adenocarcinoma. BMJ Case Rep. 2017 Jan 20; 2017:
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  9. Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, Fernandez-Jaen A, McGehee F, Selby K, Tarailo-Graovac M, Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG, DDD study. Clinical delineation of the PACS1-related syndrome--Report on 19 patients. Am J Med Genet A. 2016 Mar; 170: (3)670-5.
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  10. Lazaridis KN, Schahl KA, Cousin MA, Babovic-Vuksanovic D, Riegert-Johnson DL, Gavrilova RH, McAllister TM, Lindor NM, Abraham RS, Ackerman MJ, Pichurin PN, Deyle DR, Gavrilov DK, Hand JL, Klee EW, Stephens MC, Wick MJ, Atkinson EJ, Linden DR, Ferber MJ, Wieben ED, Farrugia G, Individualized Medicine Clinic Members. Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience. Mayo Clin Proc. 2016 Mar; 91: (3)297-307.
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  11. Weyhrauch DL, Ye D, Boczek NJ, Tester DJ, Gavrilova RH, Patterson MC, Wieben ED, Ackerman MJ. Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal PQ-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay. Pediatr Neurol. 2016 Feb; 55:46-51.
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  12. Weyhrauch DL, Ye D, Boczek NJ, Tester DJ, Gavrilova RH, Patterson MC, Wieben ED, Ackerman MJ. Whole exome sequencing and heterologous cellular electrophysiology studies elucidate a novel loss-of-function mutation in the cacna1a-encoded neuronal p/q-type calcium channel in a child with congenital hypotonia and developmental delay Journal Of The Japan Petroleum Institute. 2016 Jan; 59: (1)46-51.
  13. Schuurs-Hoeijmakers J, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kwan A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Hopkin R, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Tatton Brown K, Gadzicki D, Kini U, Alvarez S, Fernández-Jaén A, McGehee F, van Karnebeek C, Van Allen M, Selby K, Tarailo-Graovac M, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin R, Chu Y, Chung B, Devriendt K, Hurles ME, Brunner HG. Clinical delineation of the PACS1-related Syndrome - Report on 19 cases. Am J Medical Genetics. 2015 Oct.
  14. Klein CJ, Middha S, Duan X, Wu Y, Litchy WJ, Gu W, Dyck PJ, Gavrilova RH, Smith DI, Kocher JP, Dyck PJ. Application of whole exome sequencing in undiagnosed inherited polyneuropathies. J Neurol Neurosurg Psychiatry. 2014 Nov; 85(11):1265-72. Epub 2014 Mar 06.
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  15. Graff-Radford J, Schwartz K, Gavrilova RH, Lachance DH, Kumar N. Neuroimaging and clinical features in type II (late-onset) Alexander disease. Neurology. 2014 Jan 7; 82(1):49-56. Epub 2013 Dec 4
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  16. Broomall E, Renaud D, Ghadban R, Gavrilova R, Brodsky MC. Peripapillary chorioretinal lacunae in a girl with 3q21.3 to 3q22.1 microdeletion with features of Aicardi syndrome. JAMA Ophthalmol. 2013 Nov; 131(11):1485-7.
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  17. Oglesbee D, Kroll C, Gakh O, Deutsch EC, Lynch DR, Gavrilova R, Tortorelli S, Raymond K, Gavrilov D, Rinaldo P, Matern D, Isaya G. High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood. Clin Chem. 2013 Oct; 59(10):1461-9. Epub 2013 Jul 09.
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  18. Klein CJ, Wu Y, Kilfoyle DH, Sandroni P, Davis MD, Gavrilova RH, Low PA, Dyck PJ. Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia. J Neurol Neurosurg Psychiatry. 2013 Apr; 84: (4)386-91.
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  19. 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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  20. Flanagan EP, Gavrilova RH, Boeve BF, Kumar N, Jelsing EJ, Silber MH. Adult-onset autosomal dominant leukodystrophy presenting with REM sleep behavior disorder. Neurology. 2013 Jan 1; 80(1):118-20. Epub 2012 Dec 12.
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  21. Jones LK Jr, Liewluck T, Gavrilova RH. Myalgic phenotype and preserved muscle strength in adult-onset acid maltase deficiency. Neuromuscul Disord. 2012 Aug; 22(8):763-6. Epub 2012 May 16.
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  22. Babovic-Vuksanovic D, Messiaen L, Nagel C, Brems H, Scheithauer B, Denayer E, Mao R, Sciot R, Janowski KM, Schuhmann MU, Claes K, Beert E, Garrity JA, Spinner RJ, Stemmer-Rachamimov A, Gavrilova R, Van Calenbergh, Mautner V, Legius E. Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome. Eur J Hum Genet. 2012 Jun; 20(6):618-25. Epub 2012 Jan 18.
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  23. Boeve BF, Boylan KB, Graff-Radford NR, DeJesus-Hernandez M, Knopman DS, Pedraza O, Vemuri P, Jones D, Lowe V, Murray ME, Dickson DW, Josephs KA, Rush BK, Machulda MM, Fields JA, Ferman TJ, Baker M, Rutherford NJ, Adamson J, Wszolek ZK, Adeli A, Savica R, Boot B, Kuntz KM, Gavrilova R, Reeves A, Whitwell J, Kantarci K, Jack CR Jr, Parisi JE, Lucas JA, Petersen RC, Rademakers R. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain. 2012 Mar; 135: (Pt 3)765-83.
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  24. 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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  25. Gurrieri C, Kivela JE, Bojanic K, Gavrilova RH, Flick RP, Sprung J, Weingarten TN. Anesthetic considerations in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case series. Can J Anaesth. 2011 Aug; 58(8):751-63. Epub 2011 Jun 09.
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  26. Passov V, Gavrilova RH, Strand E, Cerhan JH, Josephs KA. Sporadic corticobasal syndrome with progranulin mutation presenting as progressive apraxic agraphia. Arch Neurol. 2011 Mar; 68: (3)376-80.
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  27. Brinjikji W, Swanson JW, Zabel C, Dyck PJ, Tracy JA, Gavrilova RH. Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene. JIMD Rep. 2011; 1:89-96.
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  28. Gavrilova R, Passov V, Strand E, Cerhan J, Josephs K. Sporadic Corticobasal Syndrome with Progranulin Mutation Presenting as Progressive Apraxic Agraphia. Archives of Neurology. 2010.
  29. Gavrilova R, Babovic N, Lteif A, Eidem B, Kirmani S, Olson T, Babovic-Vuksanovic D. Vitamin A deficiency in an infant with PAGOD syndrome. Am J Med Genet A. 2009 Oct; 149A(10):2241-7.
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  30. Lucchinetti CF, Gavrilova RH, Metz I, Parisi JE, Scheithauer BW, Weigand S, Thomsen K, Mandrekar J, Altintas A, Erickson BJ, Konig F, Giannini C, Lassmann H, Linbo L, Pittock SJ, Bruck W. Clinical and radiographic spectrum of pathologically confirmed tumefactive multiple sclerosis. Brain. 2008 Jul; 131: (Pt 7)1759-75.
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  31. Miller RC, Lachance DH, Lucchinetti CF, Keegan BM, Gavrilova RH, Brown PD, Weinshenker BG, Rodriguez M. Multiple sclerosis, brain radiotherapy, and risk of neurotoxicity: the Mayo Clinic experience. Int J Radiat Oncol Biol Phys. 2006 Nov 15; 66(4):1178-86. Epub 2006 Sep 11.
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  32. Meyer MA, Gavrilova RH. Flumazenil responsive ornithine transcarbamylase deficiency encephalopathy:clinical and radiographic features. J Neuroimaging. 2002 Jan; 12(1):87-8.
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