Fundación Pública Gallega de Medicina Genómica
Centro de investigación
Centre Hospitalier Regional et Universitaire de Lille
Lila, FranciaPublicaciones en colaboración con investigadores/as de Centre Hospitalier Regional et Universitaire de Lille (7)
2024
-
Comparison of the ABC and ACMG systems for variant classification
European Journal of Human Genetics
2022
-
New insights into the genetic etiology of Alzheimer's disease and related dementias
Nature genetics, Vol. 54, Núm. 4, pp. 412-436
2020
-
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Brain, Vol. 143, Núm. 10, pp. 2929-2944
2019
-
Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2)
Nature Genetics
-
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
Nature Genetics, Vol. 51, Núm. 3, pp. 414-430
-
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
npj Breast Cancer, Vol. 5, Núm. 1
2015
-
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents
Gastroenterology, Vol. 149, Núm. 4, pp. 1017-1029.e3