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Dive into the research topics where Jonathan Zonana is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen
Dhooge, T., Syx, D., Hermanns-Lê, T., Hausser, I., Mortier, G., Zonana, J., Symoens, S., Byers, P. H. & Malfait, F., Dec 2021, In: Genetics in Medicine. 23, 12, p. 2378-2385 8 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
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 , Jan 1 2020, In: Human mutation. 41, 1, p. 299-315 17 p.Research output: Contribution to journal › Article › peer-review
Open Access62 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 , Jan 4 2018, In: American Journal of Human Genetics. 102, 1, p. 69-87 19 p.Research output: Contribution to journal › Article › peer-review
Open Access114 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 , May 1 2017, In: European Journal of Human Genetics. 25, 5, p. 552-559 8 p.Research output: Contribution to journal › Article › peer-review
Open Access23 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 , Nov 5 2016, In: Orphanet journal of rare diseases. 11, 1, p. 1-12 12 p.Research output: Contribution to journal › Article › peer-review
Open Access9 Scopus citations