Human Genetics

Fingerprint Dive into the research topics where Human Genetics is active. These topic labels come from the works of this organization's members. Together they form a unique fingerprint.

Genes Medicine & Life Sciences
Autistic Disorder Medicine & Life Sciences
Single Nucleotide Polymorphism Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genome-Wide Association Study Medicine & Life Sciences
Genome Medicine & Life Sciences
Tandem Mass Spectrometry Medicine & Life Sciences
Glycogen Storage Disease Type II Medicine & Life Sciences

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Profiles

Photo of Deborah S Barbouth

Deborah S Barbouth

Person: Academic

20022019
No photo of Michael Cuccaro

Michael Cuccaro

Person: Academic

19892019
No photo of Maria Figueroa

Maria Figueroa

Person: Academic

20062023

Projects 1989 2023

Cancer Epigenetics Training Program

Figueroa, M. & Yang, F.

National Institutes of Health

8/1/18 → 7/31/23

Project: Research project

Epigenomics
Education
Mentors
Neoplasms
Organized Financing

Enhancer RNA Therapy

Shiekhattar, R.

National Institutes of Health

9/30/17 → 7/31/22

Project: Research project

RNA
Neoplasms
Mutation
Therapeutics
MAP Kinase Signaling System

Elucidation of Integrator's Function

Shiekhattar, R.

National Institutes of Health

8/1/10 → 12/31/19

Project: Research project

Small Nuclear RNA
RNA Polymerase II
Cleavage And Polyadenylation Specificity Factor
Genes
Proteins

Research Output 1995 2019

A distinct epigenetic program underlies the 1;7 translocation in myelodysplastic syndromes

Fernandez, A. G. L., Crescenzi, B., Pierini, V., Di Battista, V., Barba, G., Pellanera, F., Di Giacomo, D., Roti, G., Piazza, R., Adelman, E. R., Figueroa, M. & Mecucci, C., Jan 1 2019, In : Leukemia.

Research output: Contribution to journal › Article

Open Access
Myelodysplastic Syndromes
Epigenomics
Down-Regulation
Genes
Monosomy

A pathway for attesting ethical provenance of cell lines: Lessons from the European human pluripotent stem cell registry (hPSCreg)

Isasi, R., Namorado, J., Mah, N., Bultjer, N. & Kurtz, A., Oct 1 2019, In : Stem Cell Research. 40, 101539.

Research output: Contribution to journal › Article

Open Access
Pluripotent Stem Cells
Registries
Cell Line
3 Citations (Scopus)

A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease

Alzheimer's Disease Sequencing Project, Mar 1 2019, In : Alzheimer's and Dementia. 15, 3, p. 441-452 12 p.

Research output: Contribution to journal › Article

Open Access
Alzheimer Disease
Hispanic Americans
Genome-Wide Association Study
Case-Control Studies
Alzheimer disease type 2