Muir, A. M., Cohen, J. L., Sheppard, S. E., Guttipatti, P., Lo, T. Y., Weed, N., … Mefford, H. C. (2020). Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. The American Journal of Human Genetics, 106(5), 623–631. https://doi.org/10.1016/j.ajhg.2020.03.009

Muir, Alison M., Jennifer L. Cohen, Sarah E. Sheppard, Pavithran Guttipatti, Tsz Y. Lo, Natalie Weed, Dan Doherty, et al. “Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.” The American Journal of Human Genetics 106, no. 5 (May 2020): 623–31. https://doi.org/10.1016/j.ajhg.2020.03.009.

Muir AM, Cohen JL, Sheppard SE, Guttipatti P, Lo TY, Weed N, et al. Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. The American Journal of Human Genetics. 2020 May;106(5):623–31.

Muir, Alison M., et al. “Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.” The American Journal of Human Genetics, vol. 106, no. 5, Elsevier BV, May 2020, pp. 623–31. Crossref, doi:10.1016/j.ajhg.2020.03.009.

Muir AM, Cohen JL, Sheppard SE, Guttipatti P, Lo TY, Weed N, Doherty D, DeMarzo D, Fagerberg CR, Kjærsgaard L, Larsen MJ, Rump P, Löhner K, Hirsch Y, Zeevi DA, Zackai EH, Bhoj E, Song Y, Mefford HC. Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. The American Journal of Human Genetics. Elsevier BV; 2020 May;106(5):623–631.