Projects per year
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.
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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
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
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
25
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, , Jan 4 2018, In : American Journal of Human Genetics. 102, 1, p. 69-87 19 p.Research output: Contribution to journal › Article
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, , Mar 22 2017, (Accepted/In press) In : European Journal of Human Genetics.Research output: Contribution to journal › Article
Coloboma
Microcephaly
Kidney
Exome
Lip
6
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, , Nov 5 2016, In : Orphanet Journal of Rare Diseases. 11, 1, p. 1-12 12 p.Research output: Contribution to journal › Article
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 journal › Article
Chilblains
Aicardi Syndrome
Neurologic Manifestations
Frameshift Mutation
Raynaud Disease
51
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, , Nov 1 2015, In : Human Mutation. 36, 11, p. 1052-1063 12 p.Research output: Contribution to journal › Article
Noonan Syndrome
Neurofibromatosis 1
Pulmonary Valve Stenosis
Genetic Association Studies
Missense Mutation