• Source: Scopus

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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.


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  • ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

    Alsharhan, H., He, M., Edmondson, A. C., Daniel, E. J. P., Chen, J., Donald, T., Bakhtiari, S., Amor, D. J., Jones, E. A., Vassallo, G., Vincent, M., Cogné, B., Deb, W., Werners, A. H., Jin, S. C., Bilguvar, K., Christodoulou, J., Webster, R. I., Yearwood, K. R., Ng, B. G. & 6 others, Freeze, H. H., Kruer, M. C., Li, D., Raymond, K. M., Bhoj, E. J. & Sobering, A. K., Jul 2021, In: Journal of Inherited Metabolic Disease. 44, 4, p. 1001-1012 12 p.

    Research output: Contribution to journalArticlepeer-review

  • Association of Damaging Variants in Genes with Increased Cancer Risk among Patients with Congenital Heart Disease

    Seidman, C. E., Morton, S. U., Shimamura, A., Newburger, P. E., Opotowsky, A. R., Quiat, D., Pereira, A. C., Jin, S. C., Gurvitz, M., Brueckner, M., Chung, W. K., Shen, Y., Bernstein, D., Gelb, B. D., Giardini, A., Goldmuntz, E., Kim, R. W., Lifton, R. P., Porter, G. A., Srivastava, D. & 3 others, Tristani-Firouzi, M., Newburger, J. W. & Seidman, J. G., Apr 2021, In: JAMA Cardiology. 6, 4, p. 457-462 6 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    3 Scopus citations
  • Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy (Nature Genetics, (2020), 52, 10, (1046-1056), 10.1038/s41588-020-0695-1)

    Jin, S. C., Lewis, S. A., Bakhtiari, S., Zeng, X., Sierant, M. C., Shetty, S., Nordlie, S. M., Elie, A., Corbett, M. A., Norton, B. Y., van Eyk, C. L., Haider, S., Guida, B. S., Magee, H., Liu, J., Pastore, S., Vincent, J. B., Brunstrom-Hernandez, J., Papavasileiou, A., Fahey, M. C. & 57 others, Berry, J. G., Harper, K., Zhou, C., Zhang, J., Li, B., Zhao, H., Heim, J., Webber, D. L., Frank, M. S. B., Xia, L., Xu, Y., Zhu, D., Zhang, B., Sheth, A. H., Knight, J. R., Castaldi, C., Tikhonova, I. R., López-Giráldez, F., Keren, B., Whalen, S., Buratti, J., Doummar, D., Cho, M., Retterer, K., Millan, F., Wang, Y., Waugh, J. L., Rodan, L., Cohen, J. S., Fatemi, A., Lin, A. E., Phillips, J. P., Feyma, T., MacLennan, S. C., Vaughan, S., Crompton, K. E., Reid, S. M., Reddihough, D. S., Shang, Q., Gao, C., Novak, I., Badawi, N., Wilson, Y. A., McIntyre, S. J., Mane, S. M., Wang, X., Amor, D. J., Zarnescu, D. C., Lu, Q., Xing, Q., Zhu, C., Bilguvar, K., Padilla-Lopez, S., Lifton, R. P., Gecz, J., MacLennan, A. H. & Kruer, M. C., Mar 2021, In: Nature Genetics. 53, 3, p. 412 1 p.

    Research output: Contribution to journalComment/debate

    Open Access
  • Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

    Genomics England Research Consortium, PREPARE network, May 1 2021, In: Brain. 144, 5, p. 1422-1434 13 p.

    Research output: Contribution to journalArticlepeer-review

    3 Scopus citations
  • DIAPH1 Variants in Non-East Asian Patients with Sporadic Moyamoya Disease

    Kundishora, A. J., Peters, S. T., Pinard, A., Duran, D., Panchagnula, S., Barak, T., Miyagishima, D. F., Dong, W., Smith, H., Ocken, J., Dunbar, A., Nelson-Williams, C., Haider, S., Walker, R. L., Li, B., Zhao, H., Thumkeo, D., Marlier, A., Duy, P. Q., Diab, N. S. & 28 others, Reeves, B. C., Robert, S. M., Sujijantarat, N., Stratman, A. N., Chen, Y. H., Zhao, S., Roszko, I., Lu, Q., Zhang, B., Mane, S., Castaldi, C., López-Giráldez, F., Knight, J. R., Bamshad, M. J., Nickerson, D. A., Geschwind, D. H., Chen, S. S. L., Storm, P. B., Diluna, M. L., Matouk, C. C., Orbach, D. B., Alper, S. L., Smith, E. R., Lifton, R. P., Gunel, M., Milewicz, D. M., Jin, S. C. & Kahle, K. T., Aug 2021, In: JAMA Neurology. 78, 8, p. 993-1003 11 p.

    Research output: Contribution to journalArticlepeer-review

    3 Scopus citations