Concepedia

Verónica Cornejo

VC

Statistics

Publications

17

Citations

497

H-Index

13

Active since

1993

Affiliations

University of Chile(Current)

Universidad Autónoma de Madrid

Centro de Biología Molecular Severo Ochoa

Hospital de Clínicas de Porto Alegre

Centre for Biomedical Network Research on Rare Diseases

Verónica Cornejo is an author at University of Chile specializing in genetics, life sciences, and human genetics.

ORCID

Publications per year

1993–2023

17

Publications

17

Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests

Paulina Mabe, A. Valiente, Vivian Vialat Soto et al. · Clinica Chimica Acta · 2004 · 59 citations · Full text

, , +3

Presence of the Mediterranean PKU mutation IVS10 in Latin America

Lourdes R. Desviat, Mar Die, Verónica Cornejo et al. · Human Molecular Genetics · 1993 · 59 citations

, , +9

Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group

B. Merinero, Belén Pérez, Celia Pérez‐Cerdá et al. · Journal of Inherited Metabolic Disease · 2007 · 58 citations

, , +9

Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing

Daniel Trujillano, Belén Pérez, Cristian Tornador et al. · European Journal of Human Genetics · 2013 · 47 citations

, , +12

Pathogenic variants of <i>DNAJC12</i> and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia

Diana Gallego, Fátima Leal, Alejandra Gámez et al. · Human Mutation · 2020 · 36 citations · Full text

, , +15

1–5 of 17