Cristina Fortuño

A new step toward the artificial ovary: survival and proliferation of isolated murine follicles after autologous transplantation in a fibrin scaffold

Valérie A. Luyckx, Marie‐Madeleine Dolmans, Julie Vanacker et al. · Fertility and Sterility · 2014 · 167 citations · Full text

Regenerative Medicine, Fibrin Scaffold, Infertility +13

Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variants

Cristina Fortuño, Kristy Lee, Magali Olivier et al. · Human Mutation · 2020 · 159 citations · Full text

Oncology, Clingen Tp53 Vcep, Genetics +10

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson et al. · The American Journal of Human Genetics · 2024 · 68 citations · Full text

Genetic Analysis, Allelic Variant, Medicine +11

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

Leila Dorling, Sara Carvalho, Jamie Allen et al. · Genome Medicine · 2022 · 53 citations · Full text

Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by <i>TP53</i> variants

Cristina Fortuño, Paul A. James, Erin L. Young et al. · Human Mutation · 2018 · 43 citations · Full text