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Jonathan (Jon) Zonana

Professor

  • Source: Scopus
  • Calculated based on no. of publications stored in Pure and citations from Scopus
1975 …2020

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  • 5273 Citations
  • 33 h-Index
  • 72 Article
  • 4 Review article
  • 3 Letter
  • 2 Comment/debate

  • 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 others, D'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
    15 Scopus citations

  • Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

    Koczkowska, M., Chen, Y., Callens, T., Gomes, A., Sharp, A., Johnson, S., Hsiao, M. C., Chen, Z., Balasubramanian, M., Barnett, C. P., Becker, T. A., Ben-Shachar, S., Bertola, D. R., Blakeley, J. O., Burkitt-Wright, E. M. M., Callaway, A., Crenshaw, M., Cunha, K. S., Cunningham, M., D'Agostino, M. D. & 55 others, Dahan, K., De Luca, A., Destrée, A., Dhamija, R., Eoli, M., Evans, D. G. R., Galvin-Parton, P., George-Abraham, J. K., Gripp, K. W., Guevara-Campos, J., Hanchard, N. A., Hernández-Chico, C., Immken, L. D., Janssens, S., Jones, K. J., Keena, B. A., Kochhar, A., Liebelt, J., Martir-Negron, A., Mahoney, M. J., Maystadt, I., McDougall, C., McEntagart, M., Mendelsohn, N., Miller, D. T., Mortier, G., Morton, J., Pappas, J., Plotkin, S. R., Pond, D., Rosenbaum, K., Rubin, K., Russell, L., Rutledge, L. S., Saletti, V., Schonberg, R., Schreiber, A., Seidel, M., Siqveland, E., Stockton, D. W., Trevisson, E., Ullrich, N. J., Upadhyaya, M., van Minkelen, R., Verhelst, H., Wallace, M. R., Yap, Y. S., Zackai, E., Zonana, J., Zurcher, V., Claes, K., Martin, Y., Korf, B. R., Legius, E. & Messiaen, L. M., Jan 4 2018, In: American Journal of Human Genetics. 102, 1, p. 69-87 19 p.

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

    51 Scopus citations

  • PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

    Low, K. J., Ansari, M., Abou Jamra, R., Clarke, A., El Chehadeh, S., Fitzpatrick, D. R., Greenslade, M., Henderson, A., Hurst, J., Keller, K., Kuentz, P., Prescott, T., Roessler, F., Selmer, K. K., Schneider, M. C., Stewart, F., Tatton-Brown, K., Thevenon, J., Vigeland, M. D., Vogt, J. & 4 others, Willems, M., Zonana, J., Study, D. D. D. & Smithson, S. F., May 1 2017, In: European Journal of Human Genetics. 25, 5, p. 552-559 8 p.

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

    16 Scopus citations

  • Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

    Morimoto, M., Myung, C., Beirnes, K., Choi, K., Asakura, Y., Bokenkamp, A., Bonneau, D., Brugnara, M., Charrow, J., Colin, E., Davis, A., Deschenes, G., Gentile, M., Giordano, M., Gormley, A. K., Govender, R., Joseph, M., Keller, K., Lerut, E., Levtchenko, E. & 11 others, Massella, L., Mayfield, C., Najafian, B., Parham, D., Spranger, J., Stenzel, P., Yis, U., Yu, Z., Zonana, J., Hendson, G. & Boerkoel, C. F., Nov 5 2016, In: Orphanet journal of rare diseases. 11, 1, p. 1-12 12 p.

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

    6 Scopus citations

  • The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome

    Yarbrough, K., Danko, C., Krol, A., Zonana, J. & Leitenberger, S., 2016, (Accepted/In press) In: American Journal of Medical Genetics, Part A.

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

    5 Scopus citations
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