Research output per year
Research output per year
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Dive into the research topics where Mads Bak 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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Balanced Translocation t(3;12) Disrupting HMGA2 and NAALADL2 Genes in Twins With Silver-Russell Syndrome and Intellectual Disability
de Souza, V. S., Wawruk, H. D., Mehrjouy, M. M., Bak, M., da Cunha, G. C. R., Gonçalves, A. C. G., Cordoba, M. S., Tommerup, N. & Mazzeu, J. F., Jun 2025, In: Clinical Genetics. 107, 6, p. 694-698 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing
Olsen, T., Ek, J., Bak, M., Grønskov, K., Bache, I., Farholt, S. & Tümer, Z., May 2025, In: Clinical Genetics. 107, 5, p. 559-563 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants
Cuccurullo, C., Cerulli Irelli, E., Ugga, L., Riva, A., D'Amico, A., Cabet, S., Lesca, G., Bilo, L., Zara, F., Iliescu, C., Barca, D., Fung, F., Helbig, K., Ortiz-Gonzalez, X., Schelhaas, H. J., Willemsen, M. H., van der Linden, I., Canafoglia, L., Courage, C. & Gommaraschi, S. & 49 others, , Sept 2024, In: Epilepsia. 65, 9, p. 2728-2750 23 p.Research output: Contribution to journal › Journal article › Research › peer-review
3 Citations (Scopus) -
Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome
Barington, M., Bak, M., Kjartansdóttir, K. R., Hansen, T. V. O., Birkedal, U., Østergaard, E. & Hove, H. B., 2024, In: American Journal of Medical Genetics. Part A. 194, 8, e63581.Research output: Contribution to journal › Journal article › Research › peer-review
2 Citations (Scopus) -
Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology
Aagaard Nolting, L., Holling, T., Nishimura, G., Ek, J., Bak, M., Ljungberg, M., Kutsche, K. & Hove, H., 2024, In: Clinical Genetics. 106, 3, p. 360-366 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
2 Citations (Scopus)