Research output per year
Research output per year
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Dive into the research topics where Daniel Koboldt is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome
Ramadesikan, S., Showpnil, I. A., Marhabaie, M., Daley, A., Varga, E. A., Gurusamy, U., Pastore, M. T., Sites, E. R., Manickam, M., Bartholomew, D. W., Hunter, J. M., White, P., Wilson, R. K., Stottmann, R. W. & Koboldt, D. C., Jan 9 2025, In: Human Genetics and Genomics Advances. 6, 1, 100379.Research output: Contribution to journal › Article › peer-review
Open Access -
A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity
Stojkic, I., Prince, B. T., Kuehn, H. S., Gil Silva, A. A., Varga, E. A., Rosenzweig, S. D., Ramadesikan, S., Supinger, R., Marhabaie, M., Chang, P., Mardis, E. R. & Koboldt, D. C., Jul 2024, In: Clinical Immunology. 264, 110244.Research output: Contribution to journal › Article › peer-review
Open Access -
Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing
Olayiwola, J. O., Marhabaie, M., Koboldt, D., Matthews, T., Siemon, A., Mouhlas, D., Porter, T., Kyle, G., Myers, C., Mei, H., Hou, Y. C. C., Babcock, M., Hunter, J., Schieffer, K. M., Akkari, Y., Reshmi, S., Cottrell, C., Mathew, M. T. & Leung, M. L., Mar 2024, In: Molecular Genetics and Genomic Medicine. 12, 3, e2349.Research output: Contribution to journal › Article › peer-review
Open Access -
Correction to: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (European Journal of Human Genetics, (2024), 32, 9, (1144-1149), 10.1038/s41431-024-01560-8)
Paulet, A., Bennett-Ness, C., Ageorges, F., Trost, D., Green, A., Goudie, D., Jewell, R., Kraatari-Tiri, M., PIARD, J., Coubes, C., Lam, W., Lynch, S. A., Groeschel, S., Ramond, F., Fluss, J., Fagerberg, C., Brasch Andersen, C., Varvagiannis, K., Kleefstra, T. & Gérard, B. & 29 others, , Sep 2024, In: European Journal of Human Genetics. 32, 9, p. 1191 1 p.Research output: Contribution to journal › Comment/debate
Open Access -
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study
Paulet, A., Bennett-Ness, C., Ageorges, F., Trost, D., Green, A., Goudie, D., Jewell, R., Kraatari-Tiri, M., PIARD, J., Coubes, C., Lam, W., Lynch, S. A., Groeschel, S., Ramond, F., Fluss, J., Fagerberg, C., Brasch Andersen, C., Varvagiannis, K., Kleefstra, T. & Gérard, B. & 29 others, , Sep 2024, In: European Journal of Human Genetics. 32, 9, p. 1144-1149 6 p.Research output: Contribution to journal › Article › peer-review
3 Scopus citations