• 2826 Citations
  • 15 Scopus h-Index
20032019

Research output per year

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Fingerprint Dive into the research topics where Neal Niu is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

  • 2826 Citations
  • 15 Scopus h-Index
  • 34 Article
  • 2 Review article
  • 1 Comment/debate
  • 1 Letter

ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles

Liewluck, T., Niu, Z., Moore, S. A., Alsharabati, M. & Milone, M., May 2019, In : Neuromuscular Disorders. 29, 5, p. 388-391 4 p.

Research output: Contribution to journalArticle

  • 2 Scopus citations

    A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins

    Karolak, J. A., Bacolla, A., Liu, Q., Lantz, P. E., Petty, J., Trapane, P., Panzer, K., Totapally, B. R., Niu, Z., Xiao, R., Xie, N. G., Wu, L. R., Szafranski, P., Zhang, D. Y. & Stankiewicz, P., Nov 1 2019, In : American Journal of Medical Genetics, Part A. 179, 11, p. 2272-2276 5 p.

    Research output: Contribution to journalArticle

  • Fatal TTR amyloidosis with neuropathy from domino liver p.Val71Ala transplant

    Puffer, R. C., Spinner, R. J., Bi, H., Sharma, R., Wang, Y., Theis, J. D., McPhail, E. D., Poterucha, J. J., Niu, Z. & Klein, C. J., Jan 1 2019, In : Neurology: Genetics. 5, 5, e351.

    Research output: Contribution to journalReview article

    Open Access
  • Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup

    Kiessling, P., Dowling, E., Huang, Y., Ho, M. L., Balakrishnan, K., Weigel, B. J., Edward Highsmith, W., Niu, Z. & Schimmenti, L. A., Jan 1 2019, In : Cold Spring Harbor Molecular Case Studies. 5, 2, a003640.

    Research output: Contribution to journalArticle

    Open Access
  • Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes

    Sun, C., Song, J., Jiang, Y., Zhao, C., Lu, J., Li, Y., Wang, Y., Gao, M., Xi, J., Luo, S., Li, M., Donaldson, K., Oprescu, S. N., Slavin, T. P., Lee, S., Magoulas, P. L., Lewis, A. M., Emrick, L., Lalani, S. R., Niu, Z. & 10 others, Landsverk, M. L., Walkiewicz, M., Person, R. E., Mei, H., Rosenfeld, J. A., Yang, Y., Antonellis, A., Hou, Y. M., Lin, J. & Zhang, V. W., Apr 1 2019, In : Neurology: Genetics. 5, 2, e316.

    Research output: Contribution to journalArticle

    Open Access
  • 1 Scopus citations