Encarna G. Garcia - Publications

Long-term effects of premenopausal risk-reducing salpingo-oophorectomy on bone mineral density.

Journal: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA

Published: August 26, 2024

A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2.

Journal: Human mutation

Published: January 01, 2023

Factors associated with intrahospital mortality in older patients with COVID-19 in Belgium : The COVID-AgeBru study

Journal: Revue medicale de Liege

Published: March 08, 2022

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

Journal: The New England journal of medicine

Published: January 20, 2021

SNP association study in PMS2-associated Lynch syndrome.

Journal: Familial cancer

Published: November 18, 2017

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

Journal: Human mutation

Published: June 01, 2017

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.

Journal: Journal of medical genetics

Published: January 24, 2017

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

Journal: Human mutation

Published: February 19, 2016