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Judith Reina-Castillón | Researchclopedia

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Judith Reina-Castillón

5

Works

73

Citations

4

h-index

3

i10-index

Research Topics

DNA Repair Mechanisms Chromosomal and Genetic Variations Genomic variations and chromosomal abnormalities

Affiliations

Hospital Sant Joan de Déu Barcelona2020–2020

Universitat Pompeu Fabra2016–2019

Centre for Biomedical Network Research on Rare Diseases2016–2017

Centro de Investigación Biomédica en Red2016–2017

Hospital Del Mar2017–2017

Top Works

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

Massimo Bogliolo,Roser Pujol,et al.

201933 citations

Genomics and Rare Diseases

Mitochondrial Function and Pathology

Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia

Judith Reina-Castillón,Roser Pujol,et al.

201723 citations

Translational Diagnostics

Jordi Pijuan,María Rodríguez-Sanz,et al.

202013 citations

Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence

Alejandro Cáceres,Tōnu Esko,et al.

20164 citations

MOSAIC EMBRYOS: DESCRIPTIVE ANALYSIS AND CLINICAL OUTCOMES AFTER PREIMPLANTATION GENETIC TESTING - ANEUPLOIDES (PGT-A)

Josep Pla-Victori,María Cruz,et al.

20220 citations