Personal profile

Research interests

My lab is currently focusing on the formation, development, and application of genetic, genomics, and bioinformatics methods to better analyze and integrate exome and genome sequencing, SNP array, RNA-sequencing, epigenomic, metabolomic, and proteomics data. Through integration of diverse types of transcriptomic and epigenetic functional annotations, the integrative genomic analysis will provide a better understanding of the molecular basis of neurodevelopmental disorders and cardiovascular diseases. Our mission is to provide meaningful and interpretable insight into disease biology, and define new targets for risk determination, prevention, and therapy.

Available to Mentor:

  • PhD/MSTP Students

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Collaborations and top research areas from the last five years

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  • A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus

    Singh, A. K., Allington, G., Viviano, S., McGee, S., Kiziltug, E., Ma, S., Zhao, S., Mekbib, K. Y., Shohfi, J. P., Duy, P. Q., DeSpenza, T., Furey, C. G., Reeves, B. C., Smith, H., Sousa, A. M. M., Cherskov, A., Allocco, A., Nelson-Williams, C., Haider, S. & Rizvi, S. R. A. & 10 others, Alper, S. L., Sestan, N., Shimelis, H., Walsh, L. K., Lifton, R. P., Moreno-De-Luca, A., Jin, S. C., Kruszka, P., Deniz, E. & Kahle, K. T., Apr 1 2024, In: Brain. 147, 4, p. 1553-1570 18 p.

    Research output: Contribution to journalArticlepeer-review

    4 Scopus citations
  • Reply to Pisan et al. Pathogenicity of inherited TRAF7 mutations in congenital heart disease

    Mishra-Gorur, K., Barak, T., Kaulen, L. D., Henegariu, O., Jin, S. C., Aguilera, S. M., Yalbir, E., Goles, G., Nishimura, S., Miyagishima, D., Djenoune, L., Altinok, S., Rai, D. K., Viviano, S., Prendergast, A., Zerillo, C., Ozcan, K., Baran, B., Sencar, L. & Goc, N. & 10 others, Yarman, Y., Ercan-Encicek, A. G., Bilguvar, K., Lifton, R. P., Moliterno, J., Louvi, A., Yuan, S., Deniz, E., Brueckner, M. & Gunel, M., Mar 19 2024, In: Proceedings of the National Academy of Sciences of the United States of America. 121, 12, e2319578121.

    Research output: Contribution to journalLetterpeer-review

    Open Access
  • TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

    Almousa, H., Lewis, S. A., Bakhtiari, S., Nordlie, S. H., Pagnozzi, A., Magee, H., Efthymiou, S., Heim, J. A., Cornejo, P., Zaki, M. S., Anwar, N., Maqbool, S., Rahman, F., Neilson, D. E., Vemuri, A., Jin, S. C., Yang, X. R., Heidari, A., Van Gassen, K. & Trimouille, A. & 40 others, Thauvin-Robinet, C., Liu, J., Bruel, A. L., Tomoum, H., Shata, M. O., Hashem, M. O., Toosi, M. B., Karimiani, E. G., Yeşil, G., Lingappa, L., Baruah, D., Ebrahimzadeh, F., Van-Gils, J., Faivre, L., Zamani, M., Galehdari, H., Sadeghian, S., Shariati, G., Mohammad, R., Van Der Smagt, J., Qari, A., Vincent, J. B., Innes, A. M., Dursun, A., Özgül, R. K., Akar, H. T., Bilguvar, K., Mignot, C., Keren, B., Raveli, C., Burglen, L., Afenjar, A., Kaat, L. D., Van Slegtenhorst, M., Alkuraya, F., Houlden, H., Padilla-Lopez, S., Maroofian, R., Sacher, M. & Kruer, M. C., Jan 1 2024, In: Brain. 147, 1, p. 311-324 14 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2 Scopus citations
  • A neural stem cell paradigm of pediatric hydrocephalus

    Duy, P. Q., Rakic, P., Alper, S. L., Robert, S. M., Kundishora, A. J., Butler, W. E., Walsh, C. A., Sestan, N., Geschwind, D. H., Jin, S. C. & Kahle, K. T., Apr 15 2023, In: Cerebral Cortex. 33, 8, p. 4262-4279 18 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    18 Scopus citations
  • De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis

    Yale Center for Genome Analysis, Jan 2023, In: Human genetics. 142, 1, p. 21-32 12 p.

    Research output: Contribution to journalArticlepeer-review

    14 Scopus citations