Jessica Nance

Assistant Professor

20072020

Research output per year

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Research Output

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

Nguyen, T. T. M., Murakami, Y., Mobilio, S., Niceta, M., Zampino, G., Philippe, C., Moutton, S., Zaki, M. S., James, K. N., Musaev, D., Mu, W., Baranano, K., Nance, J. R., Rosenfeld, J. A., Braverman, N., Ciolfi, A., Millan, F., Person, R. E., Bruel, A. L., Thauvin-Robinet, C. & 18 others, Ververi, A., DeVile, C., Male, A., Efthymiou, S., Maroofian, R., Houlden, H., Maqbool, S., Rahman, F., Baratang, N. V., Rousseau, J., St-Denis, A., Elrick, M. J., Anselm, I., Rodan, L. H., Tartaglia, M., Gleeson, J., Kinoshita, T. & Campeau, P. M., Apr 2 2020, In : American journal of human genetics. 106, 4, p. 484-495 12 p.

Research output: Contribution to journalArticle

  • De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

    Undiagnosed Diseases Network, Aug 6 2020, In : American journal of human genetics. 107, 2, p. 352-363 12 p.

    Research output: Contribution to journalArticle

  • Clinical Subpopulations in a Sample of North American Children Diagnosed with Acute Flaccid Myelitis, 2012-2016

    Elrick, M. J., Gordon-Lipkin, E., Crawford, T. O., Van Haren, K., Messacar, K., Thornton, N., Dee, E., Voskertchian, A., Nance, J. R., Muñoz, L. S., Gorman, M. P., Benson, L. A., Thomas, D. L., Pardo, C. A., Milstone, A. M. & Duggal, P., Feb 2019, In : JAMA pediatrics. 173, 2, p. 134-139 6 p.

    Research output: Contribution to journalReview article

  • Muscular dystrophies

    Nance, J., Jan 1 2018, The 5-Minute Pediatric Consult, 8th Edition. Wolters Kluwer Health, p. 614-615 2 p.

    Research output: Chapter in Book/Report/Conference proceedingChapter