Fanny Cortés

Identification of a Novel Gene on Chromosome 7q11.2 Interrupted by a Translocation Breakpoint in a Pair of Autistic Twins

Razia Sultana, Chang-En Yu, Jun Yu et al. · Genomics · 2002 · 214 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes et al. · Human Mutation · 2015 · 190 citations · Full text

Medicine, Dermatology, Genetics +17

Consumption of Folic Acid–Fortified Bread Improves Folate Status in Women of Reproductive Age in Chile

Eva Hertrampf, Fanny Cortés, M Cayazzo et al. · Journal of Nutrition · 2003 · 173 citations · Full text

Agriculture, Nutrition, Nutritional Sciences +12

Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen et al. · Human Mutation · 2019 · 133 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Wheat flour fortification with folic acid: Changes in neural tube defects rates in Chile

Fanny Cortés, Cecília Mellado, Rosa Pardo et al. · American Journal of Medical Genetics Part A · 2012 · 86 citations

Agriculture, Maternal Health, Nutritional Sciences +17