Research Overview

The overarching goal of Dr. Mathias' research is to understand the nature of cognitive dysfunction associated with psychotic disorders in adults and children. This work involves (1) the development of novel measures of cognitive abilities and their application to individuals with psychosis and unaffected controls; (2) precise characterization of cognitive deficits via computational modeling; (3) longitudinal assessments to characterize fluctuations and developmental changes in cognition; and (4) quantitative genetic analysis of cognitive phenotypes.

 

Research Background

Dr. Mathias received his PhD in Psychology from the University of York, UK. He held postdoctoral positions at the Max Planck Institute for Human Cognitive and Brain Sciences in Leipzig, Germany, Boston University, and Yale School of Medicine. He was also briefly a visiting scholar at the University of Minnesota. He is now junior faculty at Boston Children’s Hospital with a joint appointment at Harvard Medical School.

 

Publications

  1. Corrigendum to "The burden of early onset psychosis: Diagnostic complexity, high comorbidity, and poor functioning in patients and their relatives" [Schizophr. Res. Volume 285, November 2025, Pages 165-174]. Schizophr Res. 2025 Nov; 285:379. View Abstract
  2. The burden of early onset psychosis: Diagnostic complexity, high comorbidity, and poor functioning in patients and their relatives. Schizophr Res. 2025 Nov; 285:165-174. View Abstract
  3. Genetic Associations Among Inflammation, White Matter Architecture, and Extracellular Free Water. Hum Brain Mapp. 2025 Jan; 46(1):e70101. View Abstract
  4. Perceptual organization and task demands jointly shape auditory working memory capacity. JASA Express Lett. 2024 03 01; 4(3). View Abstract
  5. Cocktail-party listening and cognitive abilities show strong pleiotropy. Front Neurol. 2023; 14:1071766. View Abstract
  6. Impact of Copy Number Variants and Polygenic Risk Scores on Psychopathology in the UK Biobank. Biol Psychiatry. 2023 10 01; 94(7):591-600. View Abstract
  7. The Genetic contribution to solving the cocktail-party problem. iScience. 2022 Sep 16; 25(9):104997. View Abstract
  8. Specificity of Psychiatric Polygenic Risk Scores and Their Effects on Associated Risk Phenotypes. Biol Psychiatry Glob Open Sci. 2023 Jul; 3(3):519-529. View Abstract
  9. Brain charts for the human lifespan. Nature. 2022 04; 604(7906):525-533. View Abstract
  10. Genetic influences on externalizing psychopathology overlap with cognitive functioning and show developmental variation. Eur Psychiatry. 2021 03 31; 64(1):e29. View Abstract
  11. 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans. Transl Psychiatry. 2021 03 22; 11(1):182. View Abstract
  12. Genetic Overlap Profiles of Cognitive Ability in Psychotic and Affective Illnesses: A Multisite Study of Multiplex Pedigrees. Biol Psychiatry. 2021 09 15; 90(6):373-384. View Abstract
  13. Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs. Hum Brain Mapp. 2022 01; 43(1):300-328. View Abstract
  14. Gradual decay and sudden death of short-term memory for pitch. J Acoust Soc Am. 2021 01; 149(1):259. View Abstract
  15. Associations of cannabis use disorder with cognition, brain structure, and brain function in African Americans. Hum Brain Mapp. 2021 04 15; 42(6):1727-1741. View Abstract
  16. Searching for Imaging Biomarkers of Psychotic Dysconnectivity. Biol Psychiatry Cogn Neurosci Neuroimaging. 2021 12; 6(12):1135-1144. View Abstract
  17. The reliability and heritability of cortical folds and their genetic correlations across hemispheres. Commun Biol. 2020 09 15; 3(1):510. View Abstract
  18. Genetic Contributions to Multivariate Data-Driven Brain Networks Constructed via Source-Based Morphometry. Cereb Cortex. 2020 07 30; 30(9):4899-4913. View Abstract
  19. The architecture of co-morbidity networks of physical and mental health conditions in military veterans. Proc Math Phys Eng Sci. 2020 Jul; 476(2239):20190790. View Abstract
  20. Mapping brain asymmetry in health and disease through the ENIGMA consortium. Hum Brain Mapp. 2022 01; 43(1):167-181. View Abstract
  21. Minimal Relationship between Local Gyrification and General Cognitive Ability in Humans. Cereb Cortex. 2020 05 18; 30(6):3439-3450. View Abstract
  22. Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition. JAMA Psychiatry. 2020 04 01; 77(4):420-430. View Abstract
  23. The genetic architecture of the human cerebral cortex. Science. 2020 03 20; 367(6484). View Abstract
  24. Imaging local genetic influences on cortical folding. Proc Natl Acad Sci U S A. 2020 03 31; 117(13):7430-7436. View Abstract
  25. Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia. Mol Psychiatry. 2020 Mar; 25(3):692-695. View Abstract
  26. Neurocognitive impairment in type 2 diabetes: evidence for shared genetic aetiology. Diabetologia. 2020 05; 63(5):977-986. View Abstract
  27. On the utility of perceptual anchors during pure-tone frequency discrimination. J Acoust Soc Am. 2020 01; 147(1):371. View Abstract
  28. Evidence for genetic correlation between human cerebral white matter microstructure and inflammation. Hum Brain Mapp. 2019 10 01; 40(14):4180-4191. View Abstract
  29. Family-based analyses reveal novel genetic overlap between cytokine interleukin-8 and risk for suicide attempt. Brain Behav Immun. 2019 08; 80:292-299. View Abstract
  30. Cognitive impairment from early to middle adulthood in patients with affective and nonaffective psychotic disorders. Psychol Med. 2020 01; 50(1):48-57. View Abstract
  31. Model-Free and Model-Based Influences in Addiction-Related Behaviors. Biol Psychiatry. 2019 06 01; 85(11):936-945. View Abstract
  32. Human Cortical Thickness Organized into Genetically-determined Communities across Spatial Resolutions. Cereb Cortex. 2019 01 01; 29(1):106-118. View Abstract
  33. A QTL on chromosome 3q23 influences processing speed in humans. Genes Brain Behav. 2019 04; 18(4):e12530. View Abstract
  34. Neurochemical and Behavioral Dissections of Decision-Making in a Rodent Multistage Task. J Neurosci. 2019 01 09; 39(2):295-306. View Abstract
  35. Clinical correlates of subsyndromal depression in African American individuals with psychosis: The relationship with positive symptoms and comorbid substance dependence. Schizophr Res. 2019 04; 206:333-346. View Abstract
  36. Genetic influence on cognitive development between childhood and adulthood. Mol Psychiatry. 2021 02; 26(2):656-665. View Abstract
  37. Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia. Mol Psychiatry. 2020 03; 25(3):584-602. View Abstract
  38. Perceptual grouping in the cocktail party: Contributions of voice-feature continuity. J Acoust Soc Am. 2018 10; 144(4):2178. View Abstract
  39. Disentangling the genetic overlap between cholesterol and suicide risk. Neuropsychopharmacology. 2018 12; 43(13):2556-2563. View Abstract
  40. Rediscovering the value of families for psychiatric genetics research. Mol Psychiatry. 2019 04; 24(4):523-535. View Abstract
  41. Mapping cortical brain asymmetry in 17,141 healthy individuals worldwide via the ENIGMA Consortium. Proc Natl Acad Sci U S A. 2018 05 29; 115(22):E5154-E5163. View Abstract
  42. Shared Genetic Factors Influence Head Motion During MRI and Body Mass Index. Cereb Cortex. 2017 12 01; 27(12):5539-5546. View Abstract
  43. Human subcortical brain asymmetries in 15,847 people worldwide reveal effects of age and sex. Brain Imaging Behav. 2017 Oct; 11(5):1497-1514. View Abstract
  44. Implicit Talker Training Improves Comprehension of Auditory Speech in Noise. Front Psychol. 2017; 8:1584. View Abstract
  45. Deficits in visual working-memory capacity and general cognition in African Americans with psychosis. Schizophr Res. 2018 03; 193:100-106. View Abstract
  46. The Processing-Speed Impairment in Psychosis Is More Than Just Accelerated Aging. Schizophr Bull. 2017 07 01; 43(4):814-823. View Abstract
  47. Inferring pathobiology from structural MRI in schizophrenia and bipolar disorder: Modeling head motion and neuroanatomical specificity. Hum Brain Mapp. 2017 08; 38(8):3757-3770. View Abstract
  48. Epigenetic Age Acceleration Assessed with Human White-Matter Images. J Neurosci. 2017 05 03; 37(18):4735-4743. View Abstract
  49. Bi-directional audiovisual influences on temporal modulation discrimination. J Acoust Soc Am. 2017 04; 141(4):2474. View Abstract
  50. Serum phosphatidylinositol as a biomarker for bipolar disorder liability. Bipolar Disord. 2017 03; 19(2):107-115. View Abstract
  51. The lipidome in major depressive disorder: Shared genetic influence for ether-phosphatidylcholines, a plasma-based phenotype related to inflammation, and disease risk. Eur Psychiatry. 2017 06; 43:44-50. View Abstract
  52. A comprehensive tractography study of patients with bipolar disorder and their unaffected siblings. Hum Brain Mapp. 2016 10; 37(10):3474-85. View Abstract
  53. Genome-wide linkage on chromosome 10q26 for a dimensional scale of major depression. J Affect Disord. 2016 Feb; 191:123-31. View Abstract
  54. Recurrent major depression and right hippocampal volume: A bivariate linkage and association study. Hum Brain Mapp. 2016 Jan; 37(1):191-202. View Abstract
  55. Genome-wide significant linkage of schizophrenia-related neuroanatomical trait to 12q24. Am J Med Genet B Neuropsychiatr Genet. 2015 Dec; 168(8):678-86. View Abstract
  56. Genome-Wide Analyses of Working-Memory Ability: A Review. Curr Behav Neurosci Rep. 2014 Dec; 1(4):224-233. View Abstract
  57. Two cases of selective developmental voice-recognition impairments. Curr Biol. 2014 Oct 06; 24(19):2348-53. View Abstract
  58. Discovering schizophrenia endophenotypes in randomly ascertained pedigrees. Biol Psychiatry. 2015 Jan 01; 77(1):75-83. View Abstract
  59. How do we recognise who is speaking? Front Biosci (Schol Ed). 2014 01 01; 6(1):92-109. View Abstract
  60. Percepts, not acoustic properties, are the units of auditory short-term memory. J Exp Psychol Hum Percept Perform. 2014 Apr; 40(2):445-50. View Abstract
  61. A note about insensitivity to pitch-change direction. J Acoust Soc Am. 2011 Oct; 130(4):EL129-34. View Abstract
  62. Stimulus uncertainty and insensitivity to pitch-change direction. J Acoust Soc Am. 2010 May; 127(5):3026-37. View Abstract

Contact Samuel Mathias

Phone: 617-919-4742
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