Jonathan (Jon) Zonana

Professor

  • 5090 Citations
  • 33 h-Index
1975 …2018

Research output per year

If you made any changes in Pure these will be visible here soon.

Fingerprint Dive into the research topics where Jonathan (Jon) Zonana is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 2 Similar Profiles

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Projects

  • Research Output

    • 5090 Citations
    • 33 h-Index
    • 72 Article
    • 4 Review article
    • 3 Letter
    • 2 Comment/debate

    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 journalArticle

  • 33 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 journalArticle

  • 10 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 journalArticle

  • 6 Scopus citations

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

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

    Research output: Contribution to journalArticle

  • 3 Scopus citations

    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

    Rojnueangnit, K., Xie, J., Gomes, A., Sharp, A., Callens, T., Chen, Y., Liu, Y., Cochran, M., Abbott, M. A., Atkin, J., Babovic-Vuksanovic, D., Barnett, C. P., Crenshaw, M., Bartholomew, D. W., Basel, L., Bellus, G., Ben-Shachar, S., Bialer, M. G., Bick, D., Blumberg, B. & 53 others, Cortes, F., David, K. L., Destree, A., Duat-Rodriguez, A., Earl, D., Escobar, L., Eswara, M., Ezquieta, B., Frayling, I. M., Frydman, M., Gardner, K., Gripp, K. W., Hernández-Chico, C., Heyrman, K., Ibrahim, J., Janssens, S., Keena, B. A., Llano-Rivas, I., Leppig, K., Mcdonald, M., Misra, V. K., Mulbury, J., Narayanan, V., Orenstein, N., Galvin-Parton, P., Pedro, H., Pivnick, E. K., Powell, C. M., Randolph, L., Raskin, S., Rosell, J., Rubin, K., Seashore, M., Schaaf, C. P., Scheuerle, A., Schultz, M., Schorry, E., Schnur, R., Siqveland, E., Tkachuk, A., Tonsgard, J., Upadhyaya, M., Verma, I. C., Wallace, S., Williams, C., Zackai, E., Zonana, J., Lazaro, C., Claes, K., Korf, B., Martin, Y., Legius, E. & Messiaen, L., Nov 2015, In : Human mutation. 36, 11, p. 1052-1063 12 p.

    Research output: Contribution to journalArticle

  • 59 Scopus citations