Lois J Starr, MD

  • 667 Citations
  • 9 h-Index
20042020

Research output per year

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Research Output

  • 667 Citations
  • 9 h-Index
  • 23 Article
  • 1 Comment/debate
  • 1 Review article

Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome

Lin, A. E., Alali, A., Starr, L. J., Shah, N., Beavis, A., Pereira, E. M., Lindsay, M. E. & Klugman, S., Feb 1 2020, In : American Journal of Medical Genetics, Part A. 182, 2, p. 328-337 10 p.

Research output: Contribution to journalArticle

  • Correction to: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation (Genetics in Medicine, (2018), 10.1038/s41436-018-0269-0)

    Koczkowska, M., Callens, T., Gomes, A., Sharp, A., Chen, Y., Hicks, A. D., Aylsworth, A. S., Azizi, A. A., Basel, D. G., Bellus, G., Bird, L. M., Blazo, M. A., Burke, L. W., Cannon, A., Collins, F., DeFilippo, C., Denayer, E., Digilio, M. C., Dills, S. K., Dosa, L. & 50 others, Greenwood, R. S., Griffis, C., Gupta, P., Hachen, R. K., Hernández-Chico, C., Janssens, S., Jones, K. J., Jordan, J. T., Kannu, P., Korf, B. R., Lewis, A. M., Listernick, R. H., Lonardo, F., Mahoney, M. J., Ojeda, M. M., McDonald, M. T., McDougall, C., Mendelsohn, N., Miller, D. T., Mori, M., Oostenbrink, R., Perreault, S., Pierpont, M. E., Piscopo, C., Pond, D. A., Randolph, L. M., Rauen, K. A., Rednam, S., Rutledge, S. L., Saletti, V., Schaefer, G. B., Schorry, E. K., Scott, D. A., Shugar, A., Siqveland, E., Starr, L. J., Syed, A., Trapane, P. L., Ullrich, N. J., Wakefield, E. G., Walsh, L. E., Wangler, M. F., Zackai, E., Claes, K. B. M., Wimmer, K., van Minkelen, R., De Luca, A., Martin, Y., Legius, E. & Messiaen, L. M., Mar 1 2019, In : Genetics in Medicine. 21, 3, p. 764-765 2 p.

    Research output: Contribution to journalComment/debate

  • Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

    Koczkowska, M., Callens, T., Gomes, A., Sharp, A., Chen, Y., Hicks, A. D., Aylsworth, A. S., Azizi, A. A., Basel, D. G., Bellus, G., Bird, L. M., Blazo, M. A., Burke, L. W., Cannon, A., Collins, F., DeFilippo, C., Denayer, E., Digilio, M. C., Dills, S. K., Dosa, L. & 50 others, Greenwood, R. S., Griffis, C., Gupta, P., Hachen, R. K., Hernández-Chico, C., Janssens, S., Jones, K. J., Jordan, J. T., Kannu, P., Korf, B. R., Lewis, A. M., Listernick, R. H., Lonardo, F., Mahoney, M. J., Ojeda, M. M., McDonald, M. T., McDougall, C., Mendelsohn, N., Miller, D. T., Mori, M., Oostenbrink, R., Perreault, S., Pierpont, M. E., Piscopo, C., Pond, D. A., Randolph, L. M., Rauen, K. A., Rednam, S., Rutledge, S. L., Saletti, V., Schaefer, G. B., Schorry, E. K., Scott, D. A., Shugar, A., Siqveland, E., Starr, L. J., Syed, A., Trapane, P. L., Ullrich, N. J., Wakefield, E. G., Walsh, L. E., Wangler, M. F., Zackai, E., Claes, K. B. M., Wimmer, K., van Minkelen, R., De Luca, A., Martin, Y., Legius, E. & Messiaen, L. M., Apr 1 2019, In : Genetics in Medicine. 21, 4, p. 867-876 10 p.

    Research output: Contribution to journalArticle

  • 14 Scopus citations

    Hb Gibbon [β124(H2)Pro→Thr (HBB: c.373C>A, p.P125T)], an Asymptomatic Novel Hemoglobin Variant Detected by Newborn Screening

    Wolf, A., Rohr, J. M., Amador, C., Starr, L. J., Hoyer, J. D. & Ford, J. B., May 4 2019, In : Hemoglobin. 43, 3, p. 207-209 3 p.

    Research output: Contribution to journalArticle

  • 1 Scopus citations
  • 1 Scopus citations