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Sarah J Spence, M.D.,Ph.D.

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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. Baumer N, Spence SJ. Evaluation and Management of the Child With Autism Spectrum Disorder. Continuum (Minneap Minn). 2018 02; 24(1, Child Neurology):248-275. PMID: 29432246.
    Citations:    Fields:    Translation:Humans
  2. C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nat Neurosci. 2017 Apr; 20(4):602-611. PMID: 28263302.
    Citations: 47     Fields:    Translation:Humans
  3. Kylor C, Napier T, Rephann A, Spence SJ. Implementation of the Safety Huddle. Crit Care Nurse. 2016 Dec; 36(6):80-82. PMID: 27908951.
    Citations:    Fields:    
  4. Steinman KJ, Spence SJ, Ramocki MB, Proud MB, Kessler SK, Marco EJ, Green Snyder L, D'Angelo D, Chen Q, Chung WK, Sherr EH. 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort. Am J Med Genet A. 2016 11; 170(11):2943-2955. PMID: 27410714.
    Citations: 14     Fields:    Translation:HumansCells
  5. Shoffner J, Trommer B, Thurm A, Farmer C, Langley WA, Soskey L, Rodriguez AN, D'Souza P, Spence SJ, Hyland K, Swedo SE. CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autism. Neurology. 2016 06 14; 86(24):2258-63. PMID: 27178705.
    Citations: 2     Fields:    Translation:Humans
  6. D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry. 2016 Jan; 73(1):20-30. PMID: 26629640.
    Citations: 13     Fields:    Translation:HumansCells
  7. Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, Mefford HC, Gerdts J, Earl R, Hanson E, Goin-Kochel RP, Berry L, Kanne S, Snyder LG, Spence S, Ramocki MB, Evans DW, Spiro JE, Martin CL, Ledbetter DH, Chung WK. Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genet Med. 2016 Apr; 18(4):341-9. PMID: 26066539.
    Citations: 15     Fields:    Translation:HumansCells
  8. El Achkar CM, Spence SJ. Clinical characteristics of children and young adults with co-occurring autism spectrum disorder and epilepsy. Epilepsy Behav. 2015 Jun; 47:183-90. PMID: 25599987.
    Citations:    
  9. 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: 13     Fields:    Translation:HumansCells
  10. Viscidi EW, Johnson AL, Spence SJ, Buka SL, Morrow EM, Triche EW. The association between epilepsy and autism symptoms and maladaptive behaviors in children with autism spectrum disorder. Autism. 2014 Nov; 18(8):996-1006. PMID: 24165273.
    Citations: 5     Fields:    Translation:Humans
  11. Viscidi EW, Triche EW, Pescosolido MF, McLean RL, Joseph RM, Spence SJ, Morrow EM. Clinical characteristics of children with autism spectrum disorder and co-occurring epilepsy. PLoS One. 2013; 8(7):e67797. PMID: 23861807.
    Citations: 28     Fields:    Translation:HumansPHPublic Health
  12. Raznahan A, Wallace GL, Antezana L, Greenstein D, Lenroot R, Thurm A, Gozzi M, Spence S, Martin A, Swedo SE, Giedd JN. Compared to what? Early brain overgrowth in autism and the perils of population norms. Biol Psychiatry. 2013 Oct 15; 74(8):563-75. PMID: 23706681.
    Citations: 31     Fields:    Translation:Humans
  13. Raznahan A, Lenroot R, Thurm A, Gozzi M, Hanley A, Spence SJ, Swedo SE, Giedd JN. Mapping cortical anatomy in preschool aged children with autism using surface-based morphometry. Neuroimage Clin. 2012; 2:111-9. PMID: 24179764.
    Citations: 10     Fields:    
  14. Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet. 2012 Oct; 49(10):660-8. PMID: 23054248.
    Citations: 55     Fields:    Translation:HumansCells
  15. Kohane IS, McMurry A, Weber G, MacFadden D, Rappaport L, Kunkel L, Bickel J, Wattanasin N, Spence S, Murphy S, Churchill S. The co-morbidity burden of children and young adults with autism spectrum disorders. PLoS One. 2012; 7(4):e33224. PMID: 22511918.
    Citations: 89     Fields:    Translation:Humans
  16. Swedo SE, Baird G, Cook EH, Happé FG, Harris JC, Kaufmann WE, King BH, Lord CE, Piven J, Rogers SJ, Spence SJ, Wetherby A, Wright HH. Commentary from the DSM-5 Workgroup on Neurodevelopmental Disorders. J Am Acad Child Adolesc Psychiatry. 2012 Apr; 51(4):347-9. PMID: 22449639.
    Citations: 19     Fields:    Translation:Humans
  17. Spence SJ, Tasker RC, Pomeroy SL. Recent advances in autism spectrum disorders. Curr Opin Pediatr. 2011 Dec; 23(6):607-8. PMID: 21970831.
    Citations:    Fields:    Translation:Humans
  18. Maski KP, Jeste SS, Spence SJ. Common neurological co-morbidities in autism spectrum disorders. Curr Opin Pediatr. 2011 Dec; 23(6):609-15. PMID: 21970828.
    Citations: 17     Fields:    Translation:Humans
  19. Spence S. Autism. Editorial. Autism. 2011 Sep; 15(5):523-5. PMID: 22121543.
    Citations:    Fields:    Translation:Humans
  20. Spence SJ, Thurm A. Testing autism interventions: trials and tribulations. Lancet. 2010 Jun 19; 375(9732):2124-5. PMID: 20494435.
    Citations: 3     Fields:    Translation:Humans
  21. Spence SJ, Schneider MT. The role of epilepsy and epileptiform EEGs in autism spectrum disorders. Pediatr Res. 2009 Jun; 65(6):599-606. PMID: 19454962.
    Citations: 85     Fields:    Translation:Humans
  22. Zecavati N, Spence SJ. Neurometabolic disorders and dysfunction in autism spectrum disorders. Curr Neurol Neurosci Rep. 2009 Mar; 9(2):129-36. PMID: 19268036.
    Citations: 23     Fields:    Translation:HumansCells
  23. Nishimura Y, Martin CL, Vazquez-Lopez A, Spence SJ, Alvarez-Retuerto AI, Sigman M, Steindler C, Pellegrini S, Schanen NC, Warren ST, Geschwind DH. Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. Hum Mol Genet. 2007 Jul 15; 16(14):1682-98. PMID: 17519220.
    Citations: 115     Fields:    Translation:HumansAnimalsCells
  24. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M. Strong association of de novo copy number mutations with autism. Science. 2007 Apr 20; 316(5823):445-9. PMID: 17363630.
    Citations: 969     Fields:    Translation:HumansCells
  25. Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, Marshall CR, Scherer SW, Vieland VJ, Bartlett C, Mangin LV, Goedken R, Segre A, Pericak-Vance MA, Cuccaro ML, Gilbert JR, Wright HH, Abramson RK, Betancur C, Bourgeron T, Gillberg C, Leboyer M, Buxbaum JD, Davis KL, Hollander E, Silverman JM, Hallmayer J, Lotspeich L, Sutcliffe JS, Haines JL, Folstein SE, Piven J, Wassink TH, Sheffield V, Geschwind DH, Bucan M, Brown WT, Cantor RM, Constantino JN, Gilliam TC, Herbert M, Lajonchere C, Ledbetter DH, Lese-Martin C, Miller J, Nelson S, Samango-Sprouse CA, Spence S, State M, Tanzi RE, Coon H, Dawson G, Devlin B, Estes A, Flodman P, Klei L, McMahon WM, Minshew N, Munson J, Korvatska E, Rodier PM, Schellenberg GD, Smith M, Spence MA, Stodgell C, Tepper PG, Wijsman EM, Yu CE, Rogé B, Mantoulan C, Wittemeyer K, Poustka A, Felder B, Klauck SM, Schuster C, Poustka F, Bölte S, Feineis-Matthews S, Herbrecht E, Schmötzer G, Tsiantis J, Papanikolaou K, Maestrini E, Bacchelli E, Blasi F, Carone S, Toma C, Van Engeland H, de Jonge M, Kemner C, Koop F, Koop F, Langemeijer M, Langemeijer M, Hijmans C, Hijimans C, Staal WG, Baird G, Bolton PF, Rutter ML, Weisblatt E, Green J, Aldred C, Wilkinson JA, Pickles A, Le Couteur A, Berney T, McConachie H, Bailey AJ, Francis K, Honeyman G, Hutchinson A, Parr JR, Wallace S, Monaco AP, Barnby G, Kobayashi K, Lamb JA, Sousa I, Sykes N, Cook EH, Guter SJ, Leventhal BL, Salt J, Lord C, Corsello C, Hus V, Weeks DE, Volkmar F, Tauber M, Fombonne E, Shih A, Meyer KJ. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet. 2007 Mar; 39(3):319-28. PMID: 17322880.
    Citations: 541     Fields:    Translation:Humans
  26. Spence SJ, Cantor RM, Chung L, Kim S, Geschwind DH, Alarcón M. Stratification based on language-related endophenotypes in autism: attempt to replicate reported linkage. Am J Med Genet B Neuropsychiatr Genet. 2006 Sep 05; 141B(6):591-8. PMID: 16752361.
    Citations: 21     Fields:    Translation:Humans
  27. Sigman M, Spence SJ, Wang AT. Autism from developmental and neuropsychological perspectives. Annu Rev Clin Psychol. 2006; 2:327-55. PMID: 17716073.
    Citations: 7     Fields:    Translation:Humans
  28. Connors SL, Crowell DE, Eberhart CG, Copeland J, Newschaffer CJ, Spence SJ, Zimmerman AW. beta2-adrenergic receptor activation and genetic polymorphisms in autism: data from dizygotic twins. J Child Neurol. 2005 Nov; 20(11):876-84. PMID: 16417856.
    Citations: 24     Fields:    Translation:Humans
  29. Spence SJ. The genetics of autism. Semin Pediatr Neurol. 2004 Sep; 11(3):196-204. PMID: 15575414.
    Citations: 6     Fields:    Translation:Humans
  30. Spence SJ, Sharifi P, Wiznitzer M. Autism spectrum disorder: screening, diagnosis, and medical evaluation. Semin Pediatr Neurol. 2004 Sep; 11(3):186-95. PMID: 15575413.
    Citations: 8     Fields:    Translation:Humans
  31. Conciatori M, Stodgell CJ, Hyman SL, O'Bara M, Militerni R, Bravaccio C, Trillo S, Montecchi F, Schneider C, Melmed R, Elia M, Crawford L, Spence SJ, Muscarella L, Guarnieri V, D'Agruma L, Quattrone A, Zelante L, Rabinowitz D, Pascucci T, Puglisi-Allegra S, Reichelt KL, Rodier PM, Persico AM. Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism. Biol Psychiatry. 2004 Feb 15; 55(4):413-9. PMID: 14960295.
    Citations: 21     Fields:    Translation:Humans
  32. Yonan AL, Alarcón M, Cheng R, Magnusson PK, Spence SJ, Palmer AA, Grunn A, Juo SH, Terwilliger JD, Liu J, Cantor RM, Geschwind DH, Gilliam TC. A genomewide screen of 345 families for autism-susceptibility loci. Am J Hum Genet. 2003 Oct; 73(4):886-97. PMID: 13680528.
    Citations: 90     Fields:    Translation:Humans
  33. Geschwind DH, Sowinski J, Lord C, Iversen P, Shestack J, Jones P, Ducat L, Spence SJ. The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions. Am J Hum Genet. 2001 Aug; 69(2):463-6. PMID: 11452364.
    Citations: 119     Fields:    Translation:Humans
  34. Spence SJ, Sankar R. Visual field defects and other ophthalmological disturbances associated with vigabatrin. Drug Saf. 2001; 24(5):385-404. PMID: 11419565.
    Citations: 6     Fields:    Translation:Humans
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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.