Fundación Pública Galega de Medicina Xenómica
Research center
Centre Hospitalier Regional et Universitaire de Lille
Lila, FranciaPublications in collaboration with researchers from Centre Hospitalier Regional et Universitaire de Lille (7)
2024
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Comparison of the ABC and ACMG systems for variant classification
European Journal of Human Genetics
2022
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New insights into the genetic etiology of Alzheimer's disease and related dementias
Nature genetics, Vol. 54, Núm. 4, pp. 412-436
2020
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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
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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
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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
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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
npj Breast Cancer, Vol. 5, Núm. 1
2015
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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