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Ronald L. Thibert, D.O.


Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Sheikh IS, Nascimento FA, Thiele E, Thibert R. EEG features of 15q duplication syndrome Epileptic Disord. 2022 08 01; 24(4):735-736. PMID: 35770771.
    Citations:    Fields:    Translation:Humans
  2. Spencer ER, Shi W, Komorowski RW, Gilbert JP, Ostrowski LM, Bird LM, Thibert R, Bao C, Molloy F, Calhoun M, Koirala S, Jafar-Nejad P, Rigo F, Kramer MA, Chu CJ. Longitudinal EEG model detects antisense oligonucleotide treatment effect and increased UBE3A in Angelman syndrome. Brain Commun. 2022; 4(3):fcac106. PMID: 35611307; PMCID: PMC9123847.
  3. Duis J, Nespeca M, Summers J, Bird L, Bindels-de Heus KGCB, Valstar MJ, de Wit MY, Navis C, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Ernst S, Dendrinos M, Katz T, Diaz-Medina G, Katyayan A, Nangia S, Thibert R, Glaze D, Keary C, Pelc K, Simon N, Sadhwani A, Heussler H, Wheeler A, Woeber C, DeRamus M, Thomas A, Kertcher E, DeValk L, Kalemeris K, Arps K, Baym C, Harris N, Gorham JP, Bohnsack BL, Chambers RC, Harris S, Chambers HG, Okoniewski K, Jalazo ER, Berent A, Bacino CA, Williams C, Anderson A. A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome. Mol Genet Genomic Med. 2022 03; 10(3):e1843. PMID: 35150089; PMCID: PMC8922964.
    Citations: 1     Fields:    Translation:Humans
  4. Keary CJ, Mullett JE, Nowinski L, Wagner K, Walsh B, Saro HK, Erhabor G, Thibert RL, McDougle CJ, Ravichandran CT. Parent Description of Anxiety in Angelman Syndrome. J Autism Dev Disord. 2022 Aug; 52(8):3612-3625. PMID: 34417655.
    Citations: 1     Fields:    Translation:Humans
  5. Ostrowski LM, Spencer ER, Bird LM, Thibert R, Komorowski RW, Kramer MA, Chu CJ. Delta power robustly predicts cognitive function in Angelman syndrome. Ann Clin Transl Neurol. 2021 07; 8(7):1433-1445. PMID: 34047077; PMCID: PMC8283185.
    Citations: 6     Fields:    Translation:HumansCTClinical Trials
  6. Nascimento FA, Thiele EA, Thibert RL. Teaching NeuroImages: Notched Delta and Angelman Syndrome. Neurology. 2021 May 24. PMID: 34031203.
    Citations:    Fields:    
  7. Bird LM, Ochoa-Lubinoff C, Tan WH, Heimer G, Melmed RD, Rakhit A, Visootsak J, During MJ, Holcroft C, Burdine RD, Kolevzon A, Thibert RL. The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome. Neurology. 2021 02 16; 96(7):e1024-e1035. PMID: 33443117.
    Citations: 3     Fields:    Translation:Humans
  8. Keute M, Miller MT, Krishnan ML, Sadhwani A, Chamberlain S, Thibert RL, Tan WH, Bird LM, Hipp JF. Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment. Mol Psychiatry. 2021 07; 26(7):3625-3633. PMID: 32792659; PMCID: PMC8505254.
    Citations: 13     Fields:    Translation:HumansCells
  9. Grocott O, Phanor SK, Fung F, Thibert RL, Berkmen MB. Clinical report and biochemical analysis of a patient with fumarate hydratase deficiency. Am J Med Genet A. 2020 03; 182(3):504-507. PMID: 31746132.
    Citations:    Fields:    Translation:Humans
  10. DiStefano C, Wilson RB, Hyde C, Cook EH, Thibert RL, Reiter LT, Vogel-Farley V, Hipp J, Jeste S. Behavioral characterization of dup15q syndrome: Toward meaningful endpoints for clinical trials. Am J Med Genet A. 2020 01; 182(1):71-84. PMID: 31654560.
    Citations: 4     Fields:    Translation:HumansCells
  11. Balaj K, Nowinski L, Walsh B, Mullett J, Palumbo ML, Thibert RL, McDougle CJ, Keary CJ. Buspirone for the treatment of anxiety-related symptoms in Angelman syndrome: a case series. Psychiatr Genet. 2019 04; 29(2):51-56. PMID: 30681431.
    Citations: 4     Fields:    Translation:Humans
  12. Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC. Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement. Clin Genet. 2019 04; 95(4):462-478. PMID: 30677142.
    Citations: 15     Fields:    Translation:Humans
  13. Gorman MP, Gombolay GY, Mehan WA, Thibert RL. Case 27-2018: A 3-Year-Old Boy with Seizures. N Engl J Med. 2018 Aug 30; 379(9):870-878. PMID: 30157393.
    Citations:    Fields:    Translation:Humans
  14. Nickels K, Thibert R, Rau S, Demarest S, Wirrell E, Kossoff EH, Joshi C, Nangia S, Shellhaas R. How do we diagnose and treat epilepsy with myoclonic-atonic seizures (Doose syndrome)? Results of the Pediatric Epilepsy Research Consortium survey. Epilepsy Res. 2018 08; 144:14-19. PMID: 29729532.
    Citations: 3     Fields:    Translation:Humans
  15. Prasad A, Grocott O, Parkin K, Larson A, Thibert RL. Angelman syndrome in adolescence and adulthood: A retrospective chart review of 53 cases. Am J Med Genet A. 2018 06; 176(6):1327-1334. PMID: 29696750.
    Citations: 10     Fields:    Translation:Humans
  16. Worden L, Grocott O, Tourjee A, Chan F, Thibert R. Diazepam for outpatient treatment of nonconvulsive status epilepticus in pediatric patients with Angelman syndrome. Epilepsy Behav. 2018 05; 82:74-80. PMID: 29597185.
    Citations: 3     Fields:    Translation:Humans
  17. Pollack SF, Grocott OR, Parkin KA, Larson AM, Thibert RL. Myoclonus in Angelman syndrome. Epilepsy Behav. 2018 05; 82:170-174. PMID: 29555100.
    Citations: 3     Fields:    Translation:Humans
  18. Ajayi OJ, Smith EJ, Viangteeravat T, Huang EY, Nagisetty NSVR, Urraca N, Lusk L, Finucane B, Arkilo D, Young J, Jeste S, Thibert R, Reiter LT. Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses. JMIR Res Protoc. 2017 Oct 18; 6(10):e194. PMID: 29046268; PMCID: PMC5666222.
    Citations: 1     
  19. Glassman LW, Grocott OR, Kunz PA, Larson AM, Zella G, Ganguli K, Thibert RL. Prevalence of gastrointestinal symptoms in Angelman syndrome. Am J Med Genet A. 2017 Oct; 173(10):2703-2709. PMID: 28816003.
    Citations: 7     Fields:    Translation:Humans
  20. Sidorov MS, Deck GM, Dolatshahi M, Thibert RL, Bird LM, Chu CJ, Philpot BD. Erratum to: Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis. J Neurodev Disord. 2017; 9:30. PMID: 28725279.
    Citations: 1     Fields:    
  21. Sidorov MS, Deck GM, Dolatshahi M, Thibert RL, Bird LM, Chu CJ, Philpot BD. Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis. J Neurodev Disord. 2017; 9:17. PMID: 28503211.
    Citations: 40     Fields:    
  22. McKenzie ED, Lim AS, Leung EC, Cole AJ, Lam AD, Eloyan A, Nirola DK, Tshering L, Thibert R, Garcia RZ, Bui E, Deki S, Lee L, Clark SJ, Cohen JM, Mantia J, Brizzi KT, Sorets TR, Wahlster S, Borzello M, Stopczynski A, Cash SS, Mateen FJ. Validation of a smartphone-based EEG among people with epilepsy: A prospective study. Sci Rep. 2017 04 03; 7:45567. PMID: 28367974.
    Citations: 10     Fields:    Translation:Humans
  23. Grocott OR, Herrington KS, Pfeifer HH, Thiele EA, Thibert RL. Low glycemic index treatment for seizure control in Angelman syndrome: A case series from the Center for Dietary Therapy of Epilepsy at the Massachusetts General Hospital. Epilepsy Behav. 2017 03; 68:45-50. PMID: 28109989.
    Citations: 10     Fields:    Translation:HumansPHPublic Health
  24. Frohlich J, Senturk D, Saravanapandian V, Golshani P, Reiter LT, Sankar R, Thibert RL, DiStefano C, Huberty S, Cook EH, Jeste SS. A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome. PLoS One. 2016; 11(12):e0167179. PMID: 27977700.
    Citations: 20     Fields:    Translation:HumansCells
  25. Urraca N, Potter B, Hundley R, Pivnick EK, McVicar K, Thibert RL, Ledbetter C, Chamberlain R, Miravalle L, Sirois CL, Chamberlain S, Reiter LT. A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism. Front Genet. 2016; 7:205. PMID: 27933089; PMCID: PMC5122884.
    Citations: 1     
  26. Shaaya EA, Grocott OR, Laing O, Thibert RL. Seizure treatment in Angelman syndrome: A case series from the Angelman Syndrome Clinic at Massachusetts General Hospital. Epilepsy Behav. 2016 07; 60:138-141. PMID: 27206232.
    Citations: 11     Fields:    Translation:Humans
  27. DiStefano C, Gulsrud A, Huberty S, Kasari C, Cook E, Reiter LT, Thibert R, Jeste SS. Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome. J Neurodev Disord. 2016; 8:19. PMID: 27158270.
    Citations: 22     Fields:    
  28. McKenzie ED, Nirola DK, Deki S, Tshering L, Patenaude B, Clark SJ, Cash SS, Thibert R, Zepeda R, Leung EC, Lam AD, Lim AS, Mantia J, Cohen J, Cole AJ, Mateen FJ. Medication prescribing and patient-reported outcome measures in people with epilepsy in Bhutan. Epilepsy Behav. 2016 06; 59:122-7. PMID: 27131914.
    Citations: 7     Fields:    Translation:Humans
  29. Walker MA, Mohler KP, Hopkins KW, Oakley DH, Sweetser DA, Ibba M, Frosch MP, Thibert RL. Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease. J Child Neurol. 2016 08; 31(9):1127-37. PMID: 27095821; PMCID: PMC4981184.
    Citations: 13     Fields:    Translation:Humans
  30. Arkilo D, Devinsky O, Mudigoudar B, Boronat S, Jennesson M, Sassower K, Vaou OE, Lerner JT, Jeste SS, Luchsinger K, Thibert R. Electroencephalographic patterns during sleep in children with chromosome 15q11.2-13.1 duplications (Dup15q). Epilepsy Behav. 2016 Apr; 57(Pt A):133-136. PMID: 26949155.
    Citations: 3     Fields:    Translation:HumansCells
  31. Rincon SP, Blitstein MB, Caruso PA, González RG, Thibert RL, Ratai EM. The Use of Magnetic Resonance Spectroscopy in the Evaluation of Pediatric Patients With Seizures. Pediatr Neurol. 2016 05; 58:57-66. PMID: 26948493.
    Citations: 3     Fields:    Translation:Humans
  32. Pisano T, Numis AL, Heavin SB, Weckhuysen S, Angriman M, Suls A, Podesta B, Thibert RL, Shapiro KA, Guerrini R, Scheffer IE, Marini C, Cilio MR. Early and effective treatment of KCNQ2 encephalopathy. Epilepsia. 2015 May; 56(5):685-91. PMID: 25880994.
    Citations: 54     Fields:    Translation:Humans
  33. Shaaya EA, Pollack SF, Boronat S, Davis-Cooper S, Zella GC, Thibert RL. Gastrointestinal problems in 15q duplication syndrome. Eur J Med Genet. 2015 Mar; 58(3):191-3. PMID: 25573720.
    Citations: 4     Fields:    Translation:HumansCells
  34. Larson AM, Shinnick JE, Shaaya EA, Thiele EA, Thibert RL. Angelman syndrome in adulthood. Am J Med Genet A. 2015 Feb; 167A(2):331-44. PMID: 25428759; PMCID: PMC5534346.
    Citations: 25     Fields:    Translation:Humans
  35. Thibert RL, Duhaime AC, Caruso PA, Stemmer-Rachamimov A. Case records of the Massachusetts General Hospital. Case 34-2014. A 7-year-old boy with focal seizures and progressive weakness. N Engl J Med. 2014 Oct 30; 371(18):1737-46. PMID: 25354108.
    Citations: 1     Fields:    Translation:Humans
  36. Boronat S, Mehan WA, Shaaya EA, Thibert RL, Caruso P. Hippocampal abnormalities in magnetic resonance imaging (MRI) of 15q duplication syndromes. J Child Neurol. 2015 Mar; 30(3):333-8. PMID: 24985752.
    Citations: 14     Fields:    Translation:HumansCells
  37. Tan WH, Bird LM, Thibert RL, Williams CA. If not Angelman, what is it? A review of Angelman-like syndromes. Am J Med Genet A. 2014 Apr; 164A(4):975-92. PMID: 24779060.
    Citations: 45     Fields:    Translation:Humans
  38. Conant KD, Finucane B, Cleary N, Martin A, Muss C, Delany M, Murphy EK, Rabe O, Luchsinger K, Spence SJ, Schanen C, Devinsky O, Cook EH, LaSalle J, Reiter LT, Thibert RL. A survey of seizures and current treatments in 15q duplication syndrome. Epilepsia. 2014 Mar; 55(3):396-402. PMID: 24502430.
    Citations: 36     Fields:    Translation:HumansCells
  39. Caruso PA, Johnson J, Thibert R, Rapalino O, Rincon S, Ratai EM. The use of magnetic resonance spectroscopy in the evaluation of epilepsy. Neuroimaging Clin N Am. 2013 Aug; 23(3):407-24. PMID: 23928197.
    Citations: 3     Fields:    Translation:Humans
  40. Shaaya EA, Hirshberg JS, Rabe OT, Thibert RL, Inglessis I, Sharma A, Thiele EA. Cardiac fat-containing lesions are common in tuberous sclerosis complex. Am J Med Genet A. 2013 Jul; 161A(7):1662-5. PMID: 23703751.
    Citations: 6     Fields:    Translation:Humans
  41. Thibert RL, Larson AM, Hsieh DT, Raby AR, Thiele EA. Neurologic manifestations of Angelman syndrome. Pediatr Neurol. 2013 Apr; 48(4):271-9. PMID: 23498559.
    Citations: 61     Fields:    Translation:HumansAnimals
  42. Urraca N, Cleary J, Brewer V, Pivnick EK, McVicar K, Thibert RL, Schanen NC, Esmer C, Lamport D, Reiter LT. The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature. Autism Res. 2013 Aug; 6(4):268-79. PMID: 23495136.
    Citations: 70     Fields:    Translation:HumansCells
  43. van Eeghen AM, Pulsifer MB, Merker VL, Neumeyer AM, van Eeghen EE, Thibert RL, Cole AJ, Leigh FA, Plotkin SR, Thiele EA. Understanding relationships between autism, intelligence, and epilepsy: a cross-disorder approach. Dev Med Child Neurol. 2013 Feb; 55(2):146-53. PMID: 23205844.
    Citations: 56     Fields:    Translation:Humans
  44. Thibert RL, Pfeifer HH, Larson AM, Raby AR, Reynolds AA, Morgan AK, Thiele EA. Low glycemic index treatment for seizures in Angelman syndrome. Epilepsia. 2012 Sep; 53(9):1498-502. PMID: 22779920.
    Citations: 15     Fields:    Translation:HumansPHPublic Health
  45. Larson AM, Ryther RC, Jennesson M, Geffrey AL, Bruno PL, Anagnos CJ, Shoeb AH, Thibert RL, Thiele EA. Impact of pediatric epilepsy on sleep patterns and behaviors in children and parents. Epilepsia. 2012 Jul; 53(7):1162-9. PMID: 22594377.
    Citations: 22     Fields:    Translation:Humans
  46. Thibert R, Hyland K, Chiles J, Steinberg S, Eichler F. Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy. JIMD Rep. 2012; 3:79-82. PMID: 23430877.
    Citations: 2     
  47. van Eeghen AM, Numis AI, Staley BA, Therrien SE, Thibert RL, Thiele EA. Characterizing sleep disorders of adults with tuberous sclerosis complex: a questionnaire-based study and review. Epilepsy Behav. 2011 Jan; 20(1):68-74. PMID: 21130696.
    Citations: 14     Fields:    Translation:Humans
  48. J Paolini, CJ Chu-Shore, C Macdonald, P Bruno, R Thibert, E Thiele. Adverse events associated with anticonvulsant drug formulation substitution in pediatric and adult epilepsy patients. Epilepsia. 2009; 50(s10).
  49. PL Bruno, P Venna, J Hirshberg, R Thibert, E Thiele. Clinical Experience with Rufinamide (Banzel) in Patients with Intractable Epilepsy. Epilepsia. 2009; 50(s10).
  50. RL Thibert, E Thiele. Seizures in Individuas with Chromosome 15q Duplications. Epilepsia. 2009; 50(s10).
  51. A Gallagher, CJ Chu-Shore, N Roche-Labarbe, A Surova, MA Franceschini, RL Thibert, SS Cash, EA Thiele, PE Grant. Pre and post-anticonvulsant treatment changes in interictal cerebral oxygenation and neuronal activity in infants with infantile spasms. Epilepsia. 2009; 50(s10).
  52. Thibert RL, Conant KD, Braun EK, Bruno P, Said RR, Nespeca MP, Thiele EA. Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options. Epilepsia. 2009 Nov; 50(11):2369-76. PMID: 19453717.
    Citations: 37     Fields:    Translation:Humans
  53. Conant KD, Thibert RL, Thiele EA. Epilepsy and the sleep-wake patterns found in Angelman syndrome. Epilepsia. 2009 Nov; 50(11):2497-500. PMID: 19453716.
    Citations: 19     Fields:    Translation:Humans
  54. Ronald Thibert DO, MsPH, and Elizabeth Thiele, MD, PhD. Epilepsy and Risk of Drowning. Journal Watch, Neurology. 2009; 11(2):12.
  55. Thibert RL, Burns JD, Bhadelia R, Takeoka M. Reversible uncal herniation in a neonate with a large MCA infarct. Brain Dev. 2009 Nov; 31(10):763-5. PMID: 19097834.
    Citations: 3     Fields:    Translation:Humans
  56. Thibert R, Thiele E. The Significance of EEG findings in Angelman Syndrome. Epilepsia. 2008; 49(s7).
  57. Numis A, Staley B, Thibert R, Thiele E. Sleep Disorders in Epilepsy and Tuberous Sclerosis Complex. Epilepsia. 2008; 49(s7).
  58. Michaelides C, Thibert RL, Shapiro MJ, Kinirons P, John T, Manchharam D, Thiele EA. Tolerability and dosing experience of intravenous levetiracetam in children and infants. Epilepsy Res. 2008 Oct; 81(2-3):143-7. PMID: 18571898.
    Citations: 8     Fields:    Translation:HumansCTClinical Trials
  59. Conant K, Thibert R, Thiele E. Sleep Disturbances and Epilepsy in Angelman Syndrome. Epilepsia. 2007; 48(s6).
  60. Bruno P; Conant K; Thibert R; Braun E; Nespeca M; Said R; Thiele E. Treatment of Epilepsy in Angelman Syndrome. Epilepsia. 2007; 48(s6).
  61. Thibert R; Conant K; Braun E; Bruno P, Nespeca M; Said R; Thiele E. Epilepsy in Angelman Syndrome. Epilepsia. 2007; 48(s6).
  62. Thibert, RL. The Effects of dietary trans fatty acids on serum lipid and lipoprotein levels in the Framingham Study. 1996.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.