• Source: Scopus

Research activity per year

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

    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., Tristani-Firouzi, M. & 3 others, Newburger, J. W., Seidman, J. G. & Seidman, C. E., 2020, (Accepted/In press) In: JAMA Cardiology.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Exome Sequencing as a Potential Diagnostic Adjunct in Sporadic Congenital Hydrocephalus

    Sullivan, W., Reeves, B. C., Duy, P. Q., Nelson-Williams, C., Dong, W., Jin, S. C. & Kahle, K. T., 2020, (Accepted/In press) In: JAMA Pediatrics.

    Research output: Contribution to journalLetterpeer-review

  • Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

    Jin, S. C., Dong, W., Kundishora, A. J., Panchagnula, S., Moreno-De-Luca, A., Furey, C. G., Allocco, A. A., Walker, R. L., Nelson-Williams, C., Smith, H., Dunbar, A., Conine, S., Lu, Q., Zeng, X., Sierant, M. C., Knight, J. R., Sullivan, W., Duy, P. Q., DeSpenza, T., Reeves, B. C. & 41 others, Karimy, J. K., Marlier, A., Castaldi, C., Tikhonova, I. R., Li, B., Peña, H. P., Broach, J. R., Kabachelor, E. M., Ssenyonga, P., Hehnly, C., Ge, L., Keren, B., Timberlake, A. T., Goto, J., Mangano, F. T., Johnston, J. M., Butler, W. E., Warf, B. C., Smith, E. R., Schiff, S. J., Limbrick, D. D., Heuer, G., Jackson, E. M., Iskandar, B. J., Mane, S., Haider, S., Guclu, B., Bayri, Y., Sahin, Y., Duncan, C. C., Apuzzo, M. L. J., DiLuna, M. L., Hoffman, E. J., Sestan, N., Ment, L. R., Alper, S. L., Bilguvar, K., Geschwind, D. H., Günel, M., Lifton, R. P. & Kahle, K. T., Nov 2020, In: Nature medicine. 26, 11, p. 1754-1765 12 p.

    Research output: Contribution to journalArticlepeer-review

  • Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia

    Dong, W., Jin, S. C., Allocco, A., Zeng, X., Sheth, A. H., Panchagnula, S., Castonguay, A., Lorenzo, L. É., Islam, B., Brindle, G., Bachand, K., Hu, J., Sularz, A., Gaillard, J., Choi, J., Dunbar, A., Nelson-Williams, C., Kiziltug, E., Furey, C. G., Conine, S. & 29 others, Duy, P. Q., Kundishora, A. J., Loring, E., Li, B., Lu, Q., Zhou, G., Liu, W., Li, X., Sierant, M. C., Mane, S., Castaldi, C., López-Giráldez, F., Knight, J. R., Sekula, R. F., Simard, J. M., Eskandar, E. N., Gottschalk, C., Moliterno, J., Günel, M., Gerrard, J. L., Dib-Hajj, S., Waxman, S. G., Barker, F. G., Alper, S. L., Chahine, M., Haider, S., De Koninck, Y., Lifton, R. P. & Kahle, K. T., Oct 23 2020, In: iScience. 23, 10, 101552.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

    Wagner, M., Lévy, J., Jung-Klawitter, S., Bakhtiari, S., Monteiro, F., Maroofian, R., Bierhals, T., Hempel, M., Elmaleh-Bergès, M., Kitajima, J. P., Kim, C. A., Salomao, J. G., Amor, D. J., Cooper, M. S., Perrin, L., Pipiras, E., Neu, A., Doosti, M., Karimiani, E. G., Toosi, M. B. & 12 others, Houlden, H., Jin, S. C., Si, Y. C., Rodan, L. H., Venselaar, H., Kruer, M. C., Kok, F., Hoffmann, G. F., Strom, T. M., Wortmann, S. B., Tabet, A. C. & Opladen, T., Jun 1 2020, In: Genetics in Medicine. 22, 6, p. 1061-1068 8 p.

    Research output: Contribution to journalArticlepeer-review

    2 Scopus citations
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