• 16963 Citations
  • 31 h-Index
20072019
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Fingerprint Fingerprint is based on mining the text of the experts' scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

Genome Medicine & Life Sciences
Human Genome Medicine & Life Sciences
Protein Interaction Maps Medicine & Life Sciences
Genes Engineering & Materials Science
Population Medicine & Life Sciences
Genomic Structural Variation Medicine & Life Sciences
Autistic Disorder Medicine & Life Sciences
Proteins Engineering & Materials Science

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Research Output 2007 2019

How bioinformatics and open data can boost basic science in countries and universities with limited resources

Mangul, S., Martin, L. S., Langmead, B., Sanchez-Galan, J. E., Toma, I., Hormozdiari, F., Pevzner, P. & Eskin, E., Mar 1 2019, In : Nature Biotechnology. 37, 3, p. 324-326 3 p.

Research output: Contribution to journalArticle

Scanning Transmission Electron Microscopy
Bioinformatics
Computational Biology
Hardware
Research
1 Citation (Scopus)

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

Coe, B. P., Stessman, H. A. F., Sulovari, A., Geisheker, M. R., Bakken, T. E., Lake, A. M., Dougherty, J. D., Lein, E. S., Hormozdiari, F., Bernier, R. A. & Eichler, E. E., Jan 1 2019, In : Nature Genetics. 51, 1, p. 106-116 11 p.

Research output: Contribution to journalArticle

Morbidity
Mutation
Genes
Chromosome Duplication
Exome

Skewed X-inactivation is common in the general female population

BIOS consortium & GoNL consortium, Mar 1 2019, In : European Journal of Human Genetics. 27, 3, p. 455-465 11 p.

Research output: Contribution to journalArticle

Open Access
X Chromosome Inactivation
X Chromosome
Population
Genes
Alleles

TAD fusion score: Discovery and ranking the contribution of deletions to genome structure

Huynh, L. & Hormozdiari, F., Mar 21 2019, In : Genome Biology. 20, 1, 60.

Research output: Contribution to journalArticle

Open Access
ranking
genome
Genome
cancer
neoplasms

Combinatorial approach for complex disorder prediction: Case study of neurodevelopmental disorders

Huynh, L. & Hormozdiari, F., Dec 1 2018, In : Genetics. 210, 4, p. 1483-1495 13 p.

Research output: Contribution to journalArticle

Autistic Disorder
Genes
Developmental Disabilities
Precision Medicine
Genomics