All Publications


  • Phenotype and genetic analysis of data collected within the first year of NeuroDev. Neuron Kipkemoi, P., Kim, H. A., Christ, B., O'Heir, E., Allen, J., Austin-Tse, C., Baxter, S., Brand, H., Bryant, S., Buser, N., de Menil, V., Eastman, E., Murugasen, S., Galvin, A., Kombe, M., Ngombo, A., Mkubwa, B., Mwangi, P., Kipkoech, C., Lovgren, A., MacArthur, D. G., Melly, B., Mwangasha, K., Martin, A., Nkambule, L. L., Sanchis-Juan, A., Singer-Berk, M., Talkowski, M. E., VanNoy, G., van der Merwe, C., NeuroDev Project, Newton, C., O'Donnell-Luria, A., Abubakar, A., Donald, K. A., Robinson, E. B. 2023

    Abstract

    Genetic association studies have made significant contributions to our understanding of the etiology of neurodevelopmental disorders (NDDs). However, these studies rarely focused on the African continent. The NeuroDev Project aims to address this diversity gap through detailed phenotypic and genetic characterization of children with NDDs from Kenya and South Africa. We present results from NeuroDev's first year of data collection, including phenotype data from 206 cases and clinical genetic analyses of 99 parent-child trios. Most cases met criteria for global developmental delay/intellectual disability (GDD/ID, 80.3%). Approximately half of the children with GDD/ID also met criteria for autism. Analysis of exome-sequencing data identified a pathogenic or likely pathogenic variant in 13 (17%) of the 75 cases from South Africa and 9 (38%) of the 24 cases from Kenya. Data from the trio pilot are publicly available, and the NeuroDev Project will continue to develop resources for the global genetics community.

    View details for DOI 10.1016/j.neuron.2023.06.010

    View details for PubMedID 37463579

  • THE NEURODEV PROJECT: PHENOTYPIC AND GENETIC CHARACTERIZATION OF NEURODEVELOPMENTAL DISORDERS IN KENYA AND SOUTH AFRICA Kim, H., Kipkemoi, P., O'Heir, E., Eastman, E., Christ, B., Melly, B., van der Merwe, C., Newton, C., O'Donnell-Luria, A., Abubakar, A., Donald, K. A., Robinson, E. ELSEVIER. 2022: E149
  • Cognitive test scores vary with choice of personal digital device BEHAVIOR RESEARCH METHODS Passell, E., Strong, R. W., Rutter, L. A., Kim, H., Scheuer, L., Martini, P., Grinspoon, L., Germine, L. 2021; 53 (6): 2544-2557

    Abstract

    Mobile- and web-based psychological research are a valuable addition to the set of tools available for scientific study, reducing logistical barriers for research participation and allowing the recruitment of larger and more diverse participant groups. However, this comes at the cost of reduced control over the technology used by participants, which can introduce new sources of variability into study results. In this study, we examined differences in measured performance on timed and untimed cognitive tests between users of common digital devices in 59,587 (Study 1) and 3818 (Study 2) visitors to TestMyBrain.org , a web-based cognitive testing platform. Controlling for age, gender, educational background, and cognitive performance on an untimed vocabulary test, users of mobile devices, particularly Android smartphones, showed significantly slower performance on tests of reaction time than users of laptop and desktop computers, suggesting that differences in device latency affect measured reaction times. Users of devices that differ in user interface (e.g. screen size, mouse vs. touchscreen) also show significant differences (pā€‰<ā€‰0.001) in measured performance on tests requiring fast reactions or fine motor movements. By quantifying the contribution of device differences to measured cognitive performance in an online setting, we hope to improve the accuracy of mobile- and web-based cognitive assessments, allowing these methods to be used more effectively.

    View details for DOI 10.3758/s13428-021-01597-3

    View details for Web of Science ID 000647500300001

    View details for PubMedID 33954913

    View details for PubMedCentralID PMC8568735

  • Cross-Disorder Genetic Data Analysis Elucidates a Genetic Link Between Osteoarthritis and Major Depression Lee, P., Barrowsky, S., Jung, J., Nesbit, N., Kim, H., Silberstein, M., Smoller, J. W., Loggia, M. L., Fava, M. ELSEVIER SCIENCE INC. 2021: S144