Rosario Isasi

Research Assistant Professor

  • 974 Citations
20022019
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Stem Cell Research Medicine & Life Sciences
Stem Cells Medicine & Life Sciences
Research Medicine & Life Sciences
Canada Medicine & Life Sciences
Ethics Medicine & Life Sciences
Embryo Research Medicine & Life Sciences
Information Dissemination Medicine & Life Sciences
Human Genome Medicine & Life Sciences

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Research Output 2002 2019

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 journalArticle

Open Access
Pluripotent Stem Cells
Registries
Cell Line

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Undiagnosed Diseases Network, Aug 1 2019, In : American journal of human genetics. 105, 2, p. 413-424 12 p.

Research output: Contribution to journalArticle

Coloboma
Intellectual Disability
Epilepsy
Diptera
Phenotype

Ethical, legal, and social issues (ELSI) in rare diseases: a landscape analysis from funders

Hartman, A. L., Hechtelt Jonker, A., Parisi, M. A., Julkowska, D., Lockhart, N. & Isasi, R., Jan 1 2019, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Rare Diseases
Research
Patient Advocacy
Precision Medicine
Social Sciences

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Undiagnosed Diseases Network, Jun 6 2019, In : American journal of human genetics. 104, 6, p. 1127-1138 12 p.

Research output: Contribution to journalArticle

Albinism
Hypopigmentation
Fibroblasts
Vacuoles
Osteopetrosis

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

Undiagnosed Diseases Network (UDN) & Members of the Undiagnosed Diseases Network, Nov 1 2019, In : Clinical Imaging. 58, p. 108-113 6 p.

Research output: Contribution to journalArticle

Muscular Dystrophies
Magnetic Resonance Imaging
Atrophy
Lower Extremity
Muscles