Education

Medical School
UT Southwestern Medical School (2007)
Residency
UT Southwestern/Children's Medical Center (2009), Pediatrics
Residency
Harvard Medical School/Boston Childrens Hospital (2012), Pediatric Neurology
Fellowship
Massachusetts General Hospital (2014), Pediatric Movement Disorders

Research Interest

  • Functional consequences of dystonia treatment, such as deep brain stimulation
  • Neurophysiology of the neostraitum
  • Structural basis of dystonia

Publications

Featured Publications LegendFeatured Publications

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S Am. J. Hum. Genet. 2017 Nov 101 5 768-788
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D J. Med. Genet. 2017 Nov
Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective.
Dy ME, Waugh JL, Sharma N, O'Leary H, Kapur K, D'Gama AM, Sahin M, Urion DK, Kaufmann WE Pediatr. Neurol. 2017 Oct 75 91-95
Deep brain stimulation for monogenic dystonia.
Aravamuthan BR, Waugh JL, Stone SS Curr. Opin. Pediatr. 2017 Sep
Striatal dysfunction in X-linked dystonia-parkinsonism is associated with disease progression.
Brüggemann N, Rosales RL, Waugh JL, Blood AJ, Domingo A, Heldmann M, Jamora RD, Münchau A, Münte TF, Lee LV, Buchmann I, Klein C Eur. J. Neurol. 2017 May 24 5 680-686
Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.
Dy ME, Chang FC, Jesus SD, Anselm I, Mahant N, Zeilman P, Rodan LH, Foote KD, Tan WH, Eskandar E, Sharma N, Okun MS, Fung VS, Waugh JL J. Child Neurol. 2016 Jul 31 8 1027-35
Benign hereditary chorea related to NKX2-1 with ataxia and dystonia.
de Gusmao CM, Kok F, Casella EB, Waugh JL Neurol Genet 2016 Feb 2 1 e40
Localization of Basal Ganglia and Thalamic Damage in Dyskinetic Cerebral Palsy.
Aravamuthan BR, Waugh JL Pediatr. Neurol. 2016 Jan 54 11-21
Thalamic Volume Is Reduced in Cervical and Laryngeal Dystonias.
Waugh JL, Kuster JK, Levenstein JM, Makris N, Multhaupt-Buell TJ, Sudarsky LR, Breiter HC, Sharma N, Blood AJ PLoS ONE 2016 11 5 e0155302
Education in medical billing benefits both neurology trainees and academic departments.
Waugh JL Neurology 2014 Nov 83 20 1856-61

Honors & Awards

  • Invited Member, Practice Committee, Child Neurology Society
    (2014)
  • Invited Member, Medical Economics and Management Committee, American Academy of Neurology
    (2013)
  • Member, Clinical Documentation Integrity Committee, Boston Children's Hospital
    (2013)
  • Silverman Family Fellowship, Bachman-Strauss Dystonia Parkinson Foundation
    (2012-2014)

Professional Associations/Affiliations

  • International Child Neurology Association (2016)
  • Collaborative Center for X-linked Dystonia Parkinsonism, invited member (2014)
  • American Neuropsychiatric Association (2013)
  • Movement Disorders Society (2011)
  • American Academy of Neurology (2009)
  • Child Neurology Society (2009)