Jonathan (Jon) Zonana

Professor

  • 4959 Citations
  • 33 h-Index
1975 …2018
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  • 4 Similar Profiles
Anhidrotic Ectodermal Dysplasia 1 Medicine & Life Sciences
Ectodermal Dysplasia Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
DiGeorge Syndrome Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Preschool Children Medicine & Life Sciences
Prenatal Diagnosis Medicine & Life Sciences

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Projects 1991 2004

Anhidrotic Ectodermal Dysplasia 1
Ectodermal Dysplasia
Genes
Gene Library
Mutation
Ectodermal Dysplasia
Molecular Biology
Research Personnel
Genes
Sweating
Anhidrotic Ectodermal Dysplasia 1
Ectodermal Dysplasia
Research Personnel
Genes
Proteins

Research Output 1975 2018

  • 4959 Citations
  • 33 h-Index
  • 80 Article
  • 1 Chapter
19 Citations (Scopus)

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. 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

Neurofibromatosis 1
Genetic Association Studies
Missense Mutation
Codon
Phenotype
7 Citations (Scopus)

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. J., Study, D. D. D. & Smithson, S. F., Mar 22 2017, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Coloboma
Microcephaly
Kidney
Exome
Lip
4 Citations (Scopus)

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. 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

Kidney
Chromatin
Actins
Focal Segmental Glomerulosclerosis
Wnt Signaling Pathway
2 Citations (Scopus)

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

Chilblains
Aicardi Syndrome
Neurologic Manifestations
Frameshift Mutation
Raynaud Disease
43 Citations (Scopus)

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. J., Lazaro, C., Claes, K., Korf, B., Martin, Y., Legius, E. & Messiaen, L., Nov 1 2015, In : Human Mutation. 36, 11, p. 1052-1063 12 p.

Research output: Contribution to journalArticle

Noonan Syndrome
Neurofibromatosis 1
Pulmonary Valve Stenosis
Genetic Association Studies
Missense Mutation