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Mary Ella M Pierpont

1976 …2020

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Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being

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  • Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

    Koczkowska, M., Callens, T., Chen, Y., Gomes, A., Hicks, A. D., Sharp, A., Johns, E., Uhas, K. A., Armstrong, L., Bosanko, K. A., Babovic-Vuksanovic, D., Baker, L., Basel, D. G., Bengala, M., Bennett, J. T., Chambers, C., Clarkson, L. K., Clementi, M., Cortés, F. M., Cunningham, M., & 88 othersD'Agostino, M. D., Delatycki, M. B., Digilio, M. C., Dosa, L., Esposito, S., Fox, S., Freckmann, M. L., Fauth, C., Giugliano, T., Giustini, S., Goetsch, A., Goldberg, Y., Greenwood, R. S., Griffis, C., Gripp, K. W., Gupta, P., Haan, E., Hachen, R. K., Haygarth, T. L., Hernández-Chico, C., Hodge, K., Hopkin, R. J., Hudgins, L., Janssens, S., Keller, K., Kelly-Mancuso, G., Kochhar, A., Korf, B. R., Lewis, A. M., Liebelt, J., Lichty, A., Listernick, R. H., Lyons, M. J., Maystadt, I., Martinez Ojeda, M., McDougall, C., McGregor, L. K., Melis, D., Mendelsohn, N., Nowaczyk, M. J. M., Ortenberg, J., Panzer, K., Pappas, J. G., Pierpont, M. E., Piluso, G., Pinna, V., Pivnick, E. K., Pond, D. A., Powell, C. M., Rogers, C., Ruhrman Shahar, N., Rutledge, S. L., Saletti, V., Sandaradura, S. A., Santoro, C., Schatz, U. A., Schreiber, A., Scott, D. A., Sellars, E. A., Sheffer, R., Siqveland, E., Slopis, J. M., Smith, R., Spalice, A., Stockton, D. W., Streff, H., Theos, A., Tomlinson, G. E., Tran, G., Trapane, P. L., Trevisson, E., Ullrich, N. J., Van den Ende, J., Schrier Vergano, S. A., Wallace, S. E., Wangler, M. F., Weaver, D. D., Yohay, K. H., Zackai, E., Zonana, J., Zurcher, V., Claes, K. B. M., Eoli, M., Martin, Y., Wimmer, K., De Luca, A., Legius, E. & Messiaen, L. M., Jan 1 2020, In: Human mutation. 41, 1, p. 299-315 17 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    62 Scopus citations

  • Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

    Herkert, J. C., Verhagen, J. M. A., Yotti, R., Haghighi, A., Phelan, D. G., James, P. A., Brown, N. J., Stutterd, C., Macciocca, I., Leong, KE. E., Bulthuis, M. L. C., van Bever, Y., van Slegtenhorst, M. A., Boven, L. G., Roberts, A. E., Agarwal, R., Seidman, J., Lakdawala, N. K., Fernández-Avilés, F., Burke, M. A., & 12 othersPierpont, M. E., Braunlin, E., Ḉağlayan, A. O., Barge-Schaapveld, D. Q. C. M., Birnie, E., van Osch-Gevers, L., van Langen, I. M., Jongbloed, J. D. H., Lockhart, P. J., Amor, D. J., Seidman, C. E. & van de Laar, I. M. B. H., Jul 2020, In: American Heart Journal. 225, p. 108-119 12 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    13 Scopus citations

  • Cardiac transplantation in children with Noonan syndrome

    McCallen, L. M., Ameduri, R. K., Denfield, S. W., Dodd, D. A., Everitt, M. D., Johnson, J. N., Lee, T. M., Lin, A. E., Lohr, J. L., May, L. J., Pierpont, M. E., Stevenson, D. A. & Chatfield, K. C., Sep 2019, In: Pediatric transplantation. 23, 6, e13535.

    Research output: Contribution to journal › Article › peer-review

    10 Scopus citations

  • 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 othersGreenwood, 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 journal › Comment/debate › peer-review

    Open Access
    1 Scopus citations

  • CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

    DDD Study, Dec 1 2019, In: Genetics in Medicine. 21, 12, p. 2723-2733 11 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    30 Scopus citations
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