Fingerprint Fingerprint is based on mining the text of the persons scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

Epigenomics Medicine & Life Sciences
DNA Methylation Medicine & Life Sciences
Methylation Medicine & Life Sciences
Genes Medicine & Life Sciences
Single Nucleotide Polymorphism Medicine & Life Sciences
Neoplastic Gene Expression Regulation 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

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

Sobreira, N., Brucato, M., Zhang, L., Ladd-Acosta, C., 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 others Innes, 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

The Mendelian disorders of the epigenetic machinery

Bjornsson, H. T. Oct 1 2015 In : Genome Research. 25, 10, p. 1473-1481 9 p.

Research output: Contribution to journalArticle

Epigenomics
Phenotype
Intellectual Disability
Rubinstein-Taybi Syndrome
Inborn Genetic Diseases