Research output per year
Research output per year
Personal profile
Research Interests
Sjældne sygdomme
Genom analyse
Copy number variation i neuropsykiatriske lidelser
Neurogenetik
Genetisk diagnostik
Prænatal diagnostik
NIPT
Genetiske risikofaktorer for asthma
Genetiske risikofaktorer for allergi og høfeber
Farmakogenetik
Farmakogenomik
Koblingsanalyser
Whole genome association
Keywords
- Genetics
Fingerprint
Dive into the research topics where Charlotte Brasch Andersen 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
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing
Miceikaitė, I., Hao, Q., Brasch-Andersen, C., Fagerberg, C. R., Torring, P. M., Kristiansen, B. S., Ousager, L. B., Sperling, L., Ibsen, M. H., Löser, K. & Larsen, M. J., 23. Nov 2023, In: The New England Journal of Medicine. 389, 21, p. 2017-2019Research output: Contribution to journal › Comment/debate › Research › peer-review
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National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark
Lildballe, D. L., Frederiksen, A. L., Schönewolf-Greulich, B., Brasch-Andersen, C., Lautrup, C. K., Karstensen, H. G., Pedersen, I. S., Sunde, L., Risom, L., Rasmussen, M., Bertelsen, M., Andersen, M. K., Rendtorff, N. D., Gregersen, P. A., Tørring, P. M., Hammer-Hansen, S., Boonen, S. E., Lindquist, S. G., Hammer, T. B. & Diness, B. R., Dec 2023, In: European Journal of Medical Genetics. 66, 12, 5 p., 104872.Research output: Contribution to journal › Journal article › Research › peer-review
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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Rots, D., Jakub, T. E., Keung, C., Jackson, A., Banka, S., Pfundt, R., de Vries, B. B. A., van Jaarsveld, R. H., Hopman, S. M. J., van Binsbergen, E., Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, F., Goldenberg, A., Hertz, J. M., Andersen, C. B., Kibæk, M. & Prijoles, E. J. & 31 others, , 1. Jun 2023, In: American Journal of Human Genetics. 110, 6, p. 963-978Research output: Contribution to journal › Journal article › Research › peer-review
Open Access -
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
Sobering, A. K., Bryant, L. M., Li, D., McGaughran, J., Maystadt, I., Moortgat, S., Graham, J. M., van Haeringen, A., Ruivenkamp, C., Cuperus, R., Vogt, J., Morton, J., Brasch-Andersen, C., Steenhof, M., Hansen, L. K., Adler, É., Lyonnet, S., Pingault, V., Sandrine, M. & Ziegler, A. & 20 others, , 14. Jul 2022, In: Human Genetics and Genomics Advances. 3, 3, 100102.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile57 Downloads (Pure) -
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder
Elkhateeb, N., Crookes, R., Spiller, M., Pavinato, L., Palermo, F., Brusco, A., Parker, M., Park, S.-M., Mendes, A. C., Saraiva, J. M., Hammer, T. B., Nazaryan-Petersen, L., Barakat, T. S., Wilke, M., Bhoj, E., Ahrens-Nicklas, R. C., Li, D., Nomakuchi, T., Brilstra, E. H. & Hunt, D. & 51 others, , Mar 2025, In: Genetics in Medicine. 27, 3, 17 p., 101348.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile1 Downloads (Pure)
Activities
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Workshop vedr arbejdsgange i Personlig medicin
Brasch-Andersen, C. (Consultant)
11. Jan 2019Activity: Public and private sector consultation › Public sector consultancy
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Thermo Fisher (Affymetrix) Scientific Nordic Cytogenomics workshop and user meeting
Brasch-Andersen, C. (Participant)
12. Sept 2018 → 13. Sept 2018Activity: Attending an event › Conference organisation or participation
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Clarigo User meeting
Brasch-Andersen, C. (Speaker)
1. Dec 2016 → 2. Dec 2016Activity: Talks and presentations › Conference presentations
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Dansk Selskab for Medicinsk Genetik (External organisation)
Brasch-Andersen, C. (Member)
26. Apr 2016 → 26. Apr 2018Activity: Membership › Membership of commitees, commissions, boards, councils, associations, organisations, or similar
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Årsmøde Dansk Selskab for Medicinsk Genetik
Brasch-Andersen, C. (Participant)
6. Nov 2015 → 7. Nov 2015Activity: Attending an event › Organisation or participation in workshops, courses or seminars