Published Research

The publications listed on this page are a selection of the articles published by the UCSF Pediatric Brain Center’s Sensory Neurodevelopment and Autism Program. If you wish to look for more, you can search PubMED, which is maintained by the National Library of Medicine.

Neurodevelopment Treatment Studies 

  1. Jurigova BG, Gerdes MR, Anguera JA, Marco EJ. Sustained benefits of cognitive training in children with inattention, three-year follow-up. PLoS One. 2021 Feb 4;16(2):e0246449. doi: 10.1371/journal.pone.0246449. PMID: 33539468; PMCID: PMC7861383.
  2. Yerys BE, Bertollo JR, Kenworthy L, Dawson G, Marco EJ, Schultz RT, Sikich L. Brief Report: Pilot Study of a Novel Interactive Digital Treatment to Improve Cognitive Control in Children with Autism Spectrum Disorder and Co-occurring ADHD Symptoms. J Autism Dev Disord. 2019 Apr;49(4):1727-1737. doi: 10.1007/s10803-018-3856-7. PMID: 30569407.
  3. Anguera JA, Brandes-Aitken AN, Antovich AD, Rolle CE, Desai SS, Marco E. A pilot study to determine the feasibility of enhancing cognitive abilities in children with sensory processing dysfunction. PLoS One. 2017; 12(4):e0172616. PMID: 28380008.
  4. Choi JE, Widjaja F, Careaga M, Bent S, Ashwood P, Hendren RL. Change in plasma cytokine levels during risperidone treatment in children with autism. J Child Adolesc Psychopharmacol. 2014;24:586-9.

Agenesis of the Corpus Callosum

  1. Hinkley LB, Marco E, Brown EG, Bukshpun P, Gold J, Hill S, Findlay AM, Jeremy RJ, Wakahiro ML, Barkovich AJ, Mukherjee P, Sherr EH, Nagarajan SS. The Contribution of the Corpus Callosum to Language Lateralization. J Neurosci. 2016 Apr 20; 36(16):4522-33. PMID: 27098695; PMCID: PMC4837685 [Available on 10/20/16].
  2. Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, Conlin LK, Horton MA, Zackai EH, Sherr EH, Gleeson JG. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. Am J Hum Genet. 2013 Mar 7;92(3):392-400.
  3. Hinkley LB, Marco EJ, Findlay AM, Honma S, Jeremy RJ, Strominger Z, Bukshpun P, Wakahiro M, Brown WS, Paul LK, Barkovich AJ, Mukherjee P, Nagarajan SS, Sherr EH. The role of corpus callosum development in functional connectivity and cognitive processing. PLoS One. 2012;7(8):e39804.
  4. Jones-Davis DM, Yang M, Rider E, Osbun NC, da Gente GJ, Li J, Katz AM, Weber MD, Sen S, Crawley J, Sherr EH. Quantitative trait loci for interhemispheric commissure development and social behaviors in the BTBR T⁺ tf/J mouse model of autism. PLoS One. 2013 Apr 15;8(4):e61829.
  5. Lau YC, Hinkley LB, Bukshpun P, Strominger ZA, Wakahiro ML, Baron-Cohen S, Allison C, Auyeung B, Jeremy RJ, Nagarajan SS, Sherr EH, Marco EJ. Autism traits in individuals with agenesis of the corpus callosum. J Autism Dev Disord. 2013 May;43(5):1106-18..
  6. Marco EJ, Harrell KM, Brown WS, Hill SS, Jeremy RJ, Kramer JH, Sherr EH, Paul LK. Processing speed delays contribute to executive function deficits in individuals with agenesis of the corpus callosum. J Int Neuropsychol Soc. 2012 May;18(3):521-9.
  7. Sajan SA, Fernandez L, Nieh SE, Rider E, Bukshpun P, Wakahiro M, Christian SL, Rivière JB, Sullivan CT, Sudi J, Herriges MJ, Paciorkowski AR, Barkovich AJ, Glessner JT, Millen KJ, Hakonarson H, Dobyns WB, Sherr EH. Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. PLoS Genet. 2013;9(10):e1003823.

Sensory Processing in Neurodevelopmental Disorders

  1. Narayan A, Rowe MA, Palacios EM, Wren-Jarvis J, Bourla I, Gerdes M, Brandes-Aitken A, Desai SS, Marco EJ, Mukherjee P. Altered Cerebellar White Matter in Sensory Processing Dysfunction Is Associated With Impaired Multisensory Integration and Attention. Front Psychol. 2021 Feb 3;11:618436. doi: 10.3389/fpsyg.2020.618436. PMID: 33613368; PMCID: PMC7888341.
  2. Payabvash S, Palacios EM, Owen JP, Wang MB, Tavassoli T, Gerdes M, Brandes-Aitken A, Marco EJ, Mukherjee P. Diffusion tensor tractography in children with sensory processing disorder: Potentials for devising machine learning classifiers. Neuroimage Clin. 2019;23:101831. doi: 10.1016/j.nicl.2019.101831. Epub 2019 Apr 24. PMID: 31035231; PMCID: PMC6488562.
  3. Payabvash S, Palacios EM, Owen JP, Wang MB, Tavassoli T, Gerdes M, Brandes-Aitken A, Mukherjee P, Marco EJ. White Matter Connectome Correlates of Auditory Over-Responsivity: Edge Density Imaging and Machine-Learning Classifiers. Front Integr Neurosci. 2019 Mar 29;13:10. doi: 10.3389/fnint.2019.00010. PMID: 30983979; PMCID: PMC6450221.
  4. Tavassoli T, Brandes-Aitken A, Chu R, Porter L, Schoen S, Miller LJ, Gerdes MR, Owen J, Mukherjee P, Marco EJ. Sensory over-responsivity: parent report, direct assessment measures, and neural architecture. Mol Autism. 2019 Feb 4;10:4. doi: 10.1186/s13229-019-0255-7. PMID: 30740199; PMCID: PMC6360663.
  5. Brandes-Aitken A, Anguera JA, Chang YS, Demopoulos C, Owen JP, Gazzaley A, Mukherjee P, Marco EJ. White Matter Microstructure Associations of Cognitive and Visuomotor Control in Children: A Sensory Processing Perspective. Front Integr Neurosci. 2019 Jan 14;12:65. doi: 10.3389/fnint.2018.00065. PMID: 30692921; PMCID: PMC6339953.
  6. Brandes-Aitken A, Anguera JA, Rolle CE, Desai SS, Demopoulos C, Skinner SN, Gazzaley A, Marco E. Characterizing cognitive and visuomotor control in children with sensory processing dysfunction and autism spectrum disorders. Neuropsychology. 2018 Feb; 32(2):148-160. PMID: 29376661.
  7. Brandes-Aitken A, Anguera JA, Rolle CE, Desai SS, Demopoulos C, Skinner SN, Gazzaley A, Marco EJ. Characterizing cognitive and visuomotor control in children with sensory processing dysfunction and autism spectrum disorders. Neuropsychology. 2018 Feb;32(2):148-160. doi: 10.1037/neu0000404. Epub 2018 Jan 29. PMID: 29376661.
  8. Demopoulos C, Yu N, Tripp J, Mota N, Brandes-Aitken AN, Desai SS, Hill SS, Antovich AD, Harris J, Honma S, Mizuiri D, Nagarajan SS, Marco E. Magnetoencephalographic Imaging of Auditory and Somatosensory Cortical Responses in Children with Autism and Sensory Processing Dysfunction. Front Hum Neurosci. 2017; 11:259. PMID: 28603492.
  9. Chang YS, Gratiot M, Owen JP, Brandes-Aitken A, Desai SS, Hill SS, Arnett AB, Harris J, Marco EJ, Mukherjee P. White Matter Microstructure is Associated with Auditory and Tactile Processing in Children with and without Sensory Processing Disorder. Front Neuroanat. 2016 Jan 26;9:169.
  10. Demopoulos C, Brandes-Aitken AN, Desai SS, Hill SS, Antovich AD, Harris J, Marco EJ. Shared and divergent auditory and tactile processing in children with autism and children with sensory processing dysfunction relative to typically developing peers. J Int Neuropsychol Soc. 2015:1-11.
  11. Chang YS, Owen JP, Desai SS, Hill SS, Arnett AB, Harris J, Marco EJ, Mukherjee P. Autism and sensory processing disorders: shared white matter disruption in sensory pathways but divergent connectivity in social-emotional pathways. PLoS One. 2014; 9:e103038.
  12. Owen JP, Chang YS, Pojman NJ, Bukshpun P, Wakahiro ML, Marco EJ, Berman JI, Spiro JE, Chung WK, Buckner RL, Roberts TP, Nagarajan SS, Sherr EH, Mukherjee P; Simons VIP Consortium. Aberrant white matter microstructure in children with 16p11.2 deletions. J Neurosci. 2014 Apr 30;34(18):6214-23.
  13. Demopoulos C, Arroyo MS, Dunn W, Strominger Z, Sherr EH, Marco E. Individuals with agenesis of the corpus callosum show sensory processing differences as measured by the sensory profile. Neuropsychology. 2014 Dec 22.
  14. Owen JP, Marco EJ, Desai S, Fourie E, Harris J, Hill SS, Arnett AB, Mukherjee P. Abnormal white matter microstructure in children with sensory processing disorders. Neuroimage Clin. 2013 Jun 23;2:844-53.
  15. Wickremasinghe AC, Rogers EE, Johnson BC, Shen A, Barkovich AJ, Marco EJ. Children born prematurely have atypical sensory profiles. J Perinatol. 2013 Aug;33(8):631-5.
  16. Marco EJ, Khatibi K, Hill SS, Siegel B, Arroyo MS, Dowling AF, Neuhaus JM, Sherr EH, Hinkley LN, Nagarajan SS. Children with autism show reduced somatosensory response: an MEG study. Autism Res. 2012 Oct;5(5):340-51.

Autism Traits in Genetic Disorders and Brain Injury

  1. Abrahams BS, Arking DE, Campbell DB, Mefford HC, Morrow EM, Weiss LA, Menashe I, Wadkins T, Banerjee-Basu S, Packer A. SFARI Gene 2.0: a community-driven knowledge base for the Autism Spectrum Disorders (ASDs). Molecular Autism. 2013 Oct 3; 4(1):36.
  2. Adviento B, Corbin IL, Widjaja F, Desachy G, Enrique N, Rosser T, Risi S, Marco EJ, Hendren RL, Bearden CE, Rauen KA, Weiss LA. Autism traits in the RASopathies. J Med Genet. 2014 Jan;51(1):10-20.
  3. Bershteyn M, Hayashi Y, Desachy G, Hsiao E, Sami S, Tsang KM, Weiss LA, Kriegstein AR, Yamanaka S, Wynshaw-Boris A. Cell-autonomous correction of large-scale chromosomal aberrations in human induced pluripotent stem cells. Nature. 2014 Mar 6;507(7490):99-103.
  4. Martin PM, Yang X, Robin N, Lam E, Rabinowitz JS, Erdman CA, Quinn J, Weiss LA, Hamilton SP, Kwok PY, Moon RT, Cheyette BN. A rare WNT1 missense variant overrepresented in ASD leads to increased Wnt signal pathway activation. Transl Psychiatry. 2013 Sep 3;3:e301.
  5. Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 2012 Oct 19;338(6105):394-7.
  6. Tsang KM, Croen LA, Torres AR, Kharrazi M, Delorenze GN, Windham GC, Yoshida CK, Zerbo O, Weiss LA. A Genome-wide Survey of Transgenerational Genetic Effects in Autism. PLoS One. 2013 Oct 24;8(10):e76978.
  7. Marco EJ, Skuse DH. Autism-lessons from the X chromosome. Soc Cogn Affect Neurosci. 2006 Dec;1(3):183-93. doi: 10.1093/scan/nsl028. PMID: 18985105; PMCID: PMC2555419.
  8. Green Snyder L, D'Angelo D, Chen Q, Bernier R, Goin-Kochel RP, Wallace AS, Gerdts J, Kanne S, Berry L, Blaskey L, Kuschner E, Roberts T, Sherr E, Martin CL, Ledbetter DH, Spiro JE, Chung WK, Hanson E; Simons VIP consortium. Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication. J Autism Dev Disord. 2016 Aug;46(8):2734-2748. doi: 10.1007/s10803-016-2807-4. PMID: 27207092.

Genetics of Brain Development

  1. Nabais Sá MJ, Jensik PJ, McGee SR, Parker MJ, Lahiri N, McNeil EP, Kroes HY, Hagerman RJ, Harrison RE, Montgomery T, Splitt M, Palmer EE, Sachdev RK, Mefford HC, Scott AA, Martinez-Agosto JA, Lorenz R, Orenstein N, Berg JN, Amiel J, Heron D, Keren B, Cobben JM, Menke LA, Marco EJ, Graham JM Jr, Pierson TM, Karimiani EG, Maroofian R, Manzini MC, Cauley ES, Colombo R, Odent S, Dubourg C, Phornphutkul C, de Brouwer APM, de Vries BBA, Vulto-vanSilfhout AT. De novo and biallelic DEAF1 variants cause a phenotypic spectrum. Genet Med. 2019 Sep;21(9):2059-2069. doi: 10.1038/s41436-019-0473-6. Epub 2019 Mar 29. PMID: 30923367.
  2. Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, Hildebrand G, Horn D, Liu S, Marco EJ, McDonald M, McWalter K, Race S, Rush ET, Si Y, Saunders C, Slavotinek A, Stockler-Ipsiroglu S, Telegrafi A, Thiffault I, Torti E, Tsai AC, Wang X, Zafar M, Keren B, Kornak U, Boerkoel CF, Mirzaa G, Ehmke N. Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. Am J Hum Genet. 2019 Sep 5;105(3):631-639. doi: 10.1016/j.ajhg.2019.07.002. Epub 2019 Jul 25. PMID: 31353024; PMCID: PMC6731356.
  3. Martin-Brevet S, Rodríguez-Herreros B, Nielsen JA, Moreau C, Modenato C, Maillard AM, Pain A, Richetin S, Jønch AE, Qureshi AY, Zürcher NR, Conus P; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium, Chung WK, Sherr EH, Spiro JE, Kherif F, Beckmann JS, Hadjikhani N, Reymond A, Buckner RL, Draganski B, Jacquemont S. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study. Biol Psychiatry. 2018 Aug 15;84(4):253-264. doi: 10.1016/j.biopsych.2018.02.1176. Epub 2018 Mar 27. Erratum in: Biol Psychiatry. 2020 Jun 15;87(12):1084. PMID: 29778275.
  4. Marco EJ, Aitken AB, Nair VP, da Gente G, Gerdes MR, Bologlu L, Thomas S, Sherr EH. Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction. BMC Med Genomics. 2018 May 25;11(1):50. doi: 10.1186/s12920-018-0362-x. PMID: 29801487; PMCID: PMC5970458.
  5. Alber M, Kalscheuer VM, Marco E, Sherr E, Lesca G, Till M, Gradek G, Wiesener A, Korenke C, Mercier S, Becker F, Yamamoto T, Scherer SW, Marshall CR, Walker S, Dutta UR, Dalal AB, Suckow V, Jamali P, Kahrizi K, Najmabadi H, Minassian BA. ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. Neurol Genet. 2017 Jun; 3(3):e148. PMID: 28589176.
  6. Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, Herkert JC, Marco EJ, Willemsen MH, Kleefstra T, Hannibal M, Shieh JT, Lynch SA, Flinter F, FitzPatrick DR, Gardham A, Bernhard B, Ragge N, Newbury-Ecob R, Bernier R, Kvarnung M, Magnusson EA, Wessels MW, van Slegtenhorst MA, Monaghan KG, de Vries P, Veltman JA; Deciphering Developmental Disorders Study, Lord CJ, Vissers LE, de Vries BB. De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. Am J Hum Genet. 2017 Apr 6;100(4):650-658. doi: 10.1016/j.ajhg.2017.02.005. Epub 2017 Mar 23. PMID: 28343630; PMCID: PMC5384016.
  7. Anguera JA, Brandes-Aitken AN, Rolle CE, Skinner SN, Desai SS, Bower JD, Martucci WE, Chung WK, Sherr EH, Marco E. Characterizing cognitive control abilities in children with 16p11.2 deletion using adaptive 'video game' technology: a pilot study. Transl Psychiatry. 2016 09 20; 6(9):e893. PMID: 27648915.
  8. Chang YS, Owen JP, Pojman NJ, Thieu T, Bukshpun P, Wakahiro ML, Marco E, Berman JI, Spiro JE, Chung WK, Buckner RL, Roberts TP, Nagarajan SS, Sherr EH, Mukherjee P. Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications. Hum Brain Mapp. 2016 08; 37(8):2833-48. PMID: 27219475.
  9. Steinman KJ, Spence SJ, Ramocki MB, Proud MB, Kessler SK, Marco E, 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 Nov; 170(11):2943-2955. PMID: 27410714.
  10. 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; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry. 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123. PMID: 26629640; PMCID: PMC5894477.
  11. Chen YJ, Vogt D, Wang Y, Visel A, Silberberg SN, Nicholas CR, Danjo T, Pollack JL, Pennacchio LA, Anderson S, Sasai Y, Baraban SC, Kriegstein AR, Alvarez-Buylla A, Rubenstein JL. Use of "MGE Enhancers" for Labeling and Selection of Embryonic Stem Cell-Derived Medial Ganglionic Eminence (MGE) Progenitors and Neurons. PLoS One. 2013 May 1;8(5):e61956.
  12. Desachy G, Croen LA, Torres AR, Kharrazi M, Delorenze GN, Windham GC, Yoshida CK, Weiss LA. Increased female autosomal burden of rare copy number variants in human populations and in autism families. Mol Psychiatry. 2015; 20(2):170-5.
  13. Faridar A, Jones-Davis D, Rider E, Li J, Gobius I, Morcom L, Richards LJ, Sen S, Sherr EH. Mapk/Erk activation in an animal model of social deficits shows a possible link to autism. Mol Autism. 2014;5:57.
  14. McKinsey GL, Lindtner S, Trzcinski B, Visel A, Pennacchio L, Huylebroeck D, Higashi Y, and Rubenstein JLR. Dlx1&2-Dependent Expression of Zfhx1b (Sip1, Zeb2) Regulates the Fate Switch Between Cortical and Striatal Interneurons. Neuron, 2013. 77(1):83-98.
  15. Visel A, Taher L, Girgis H, May D, Golonzhka O, Hoch R, McKinsey GL, Pattabiraman K, Silberberg SN, Blow MJ, Hansen DV, Nord AS, Akiyama JA, Holt A, Hosseini R, Phouanenavong S, Plajzer-Frick I, Shoukry M, Afzal V, Kaplan T Kriegstein AR, Rubin EM, Ovcharenko I, Pennacchio LA, Rubenstein JLR. A High-Resolution Enhancer Atlas of the Developing Telencephalon. Cell. 2013 152(4):895-908.
  16. Vogt, D, Hunt, RF, Mandal, S, Sandberg, M, Silberberg, S, Nagasawa, T, Yang, Z, Baraban SC, Rubenstein, JLR. Lhx6 Directly Regulates Arx and CXCR7 to Determine Cortical Interneuron Fate and Laminar Position.Neuron. 2014 Apr 16;82(2):350-64.
  17. Zhao, Y, Flandin, P, Vogt, D, Blood, A, Hermesz, E, Westphal, H, Rubenstein, JL. Ldb1 is essential for development of Nkx2.1 lineage derived GABAergic and cholinergic neurons in the telencephalon. Dev Biol. 2014 Jan 1;385(1):94-106.

Autism Review Articles

  1. Bent S, Hendren RL. Complementary and alternative treatments for autism part 1: evidence-supported treatments. AMA J Ethics. 2015;17(4):369-74.
  2. Cheng JX, Widjaja F, Choi JE, Hendren RL. Considering biomedical/CAM treatments. Adolesc Med State Art Rev. 2013 Aug;24(2):446-64, x.
  3. Demopoulos C, Yu N, Paul LK, Sherr EH, Marco EJ. Corpus callosum in cognitive and sensory processing: insights into autism. Future Neurology. 2015;10:147-160.
  4. Goldani AA, Downs SR, Widjaja F, Lawton B, Hendren RL. Biomarkers in autism. Front Psychiatry. 2014;5:100.
  5. Hendren RL. Autism: biomedical complementary treatment approaches.Child Adolesc Psychiatr Clin N Am. 2013;22(3):443-56, vi.
  6. Hendren RL, Reeve A. Preface. Adolescent psychopharmacology update.Adolesc Med State Art Rev. 2013;24(2):xi-xiii.
  7. Marco EJ, Hinkley LB, Hill SS, Nagarajan SS. Sensory processing in autism: a review of neurophysiologic findings. Pediatr Res. 2011 May;69(5 Pt 2):48R-54R.
  8. McBurnett K, Swetye M, Muhr H, Hendren RL. Pharmacotherapy of inattention and ADHD in adolescents. Adolesc Med State Art Rev. 2013;24(2):391-405, viii.
  9. Sherr EH, Michelson DJ, Shevell MI, Moeschler JB, Gropman AL, Ashwal S. Neurodevelopmental disorders and genetic testing: current approaches and future advances. Ann Neurol. 2013 Aug;74(2):164-70.