Hans Tomas Bjornsson

Assistant Professor

20042017
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  • 5 Similar Profiles
Epigenomics Medicine & Life Sciences
DNA Methylation Medicine & Life Sciences
Methylation Medicine & Life Sciences
Genes Medicine & Life Sciences
Single Nucleotide Polymorphism Medicine & Life Sciences
Chromatin Medicine & Life Sciences
Human Genome Medicine & Life Sciences
Alleles Medicine & Life Sciences

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Research Output 2004 2017

trisomics
Trisomy
embryonic mortality
Chromosomes
X chromosome

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability

Pilarowski, G. O., Vernon, H. J., Applegate, C. D., Boukas, L., Cho, M. T., Gurnett, C. A., Benke, P. J., Beaver, E., Heeley, J. M., Medne, L., Krantz, I. D., Azage, M., Niyazov, D., Henderson, L. B., Wentzensen, I. M., Baskin, B., Sacoto, M. J. G., Bowman, G. D. & Bjornsson, H. T., Sep 2 2017, (Accepted/In press) In : Journal of Medical Genetics.

Research output: Contribution to journalArticle

Chromatin
Autistic Disorder
Phenotype
Epigenomics
Fibroblasts

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

Sobreira, N., Brucato, M., Zhang, L., Ladd-Acosta, C. M., Ongaco, C., Romm, J., Doheny, K. F., Mingroni-Netto, R. C., Bertola, D., Kim, C. A., Perez, A. B., Melaragno, M. I., Valle, D., Meloni, V. A. & Bjornsson, H. T., Dec 1 2017, In : European Journal of Human Genetics. 25, 12, p. 1335-1344 10 p.

Research output: Contribution to journalArticle

DNA Methylation
Phenotype
Histones
Histone Code
Genes

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

Okur, V., Cho, M. T., Henderson, L., Retterer, K., Schneider, M., Sattler, S., Niyazov, D., Azage, M., Smith, S., Picker, J., Lincoln, S., Tarnopolsky, M., Brady, L., Bjornsson, H. T., Applegate, C., Dameron, A., Willaert, R., Baskin, B., Juusola, J. & Chung, W. K., Apr 5 2016, (Accepted/In press) In : Human Genetics. p. 1-7 7 p.

Research output: Contribution to journalArticle

Intellectual Disability
Exome
Mutation
Lissencephaly
Casein Kinase II

Recommendations for the integration of genomics into clinical practice

Bowdin, S., Gilbert, A., Bedoukian, E., Carew, C., Adam, M. P., Belmont, J., Bernhardt, B., Biesecker, L., Bjornsson, H. T., Blitzer, M., D'Alessandro, L. C. A., Deardorff, M. A., Demmer, L., Elliott, A., Feldman, G. L., Glass, I. A., Herman, G., Hindorff, L., Hisama, F., Hudgins, L. & 25 othersInnes, A. M., Jackson, L., Jarvik, G., Kim, R., Korf, B., Ledbetter, D. H., Li, M., Liston, E., Marshall, C., Medne, L., Meyn, M. S., Monfared, N., Morton, C., Mulvihill, J. J., Plon, S. E., Rehm, H., Roberts, A., Shuman, C., Spinner, N. B., Stavropoulos, D. J., Valverde, K., Waggoner, D. J., Wilkens, A., Cohn, R. D. & Krantz, I. D., Nov 1 2016, In : Genetics in Medicine. 18, 11, p. 1075-1084 10 p.

Research output: Contribution to journalReview article

Genomics
Exome
Genome
Medicine
Clinical Medicine