Anael
López Novo
Publicacións (9) Publicacións de Anael López Novo
2024
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A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis
Journal of Molecular Diagnostics, Vol. 26, Núm. 1, pp. 17-28
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SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population
Database : the journal of biological databases and curation, Vol. 2024
2023
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BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis
Gastroenterology, Vol. 165, Núm. 1, pp. 162-172.e5
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Germline mutations in WNK2 could be associated with serrated polyposis syndrome
Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 557-567
2022
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First international workshop of the ATM and cancer risk group (4-5 December 2019)
Familial Cancer, Vol. 21, Núm. 2, pp. 211-227
2021
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A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients
Clinical chemistry, Vol. 67, Núm. 3, pp. 518-533
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Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer
Scientific Reports, Vol. 11, Núm. 1
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Genetic susceptibility to CRC
Foundations of Colorectal Cancer (Elsevier), pp. 513-518
2019
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Early colorectal cancers provide new evidence for a lynch syndrome-to-CMMRD phenotypic continuum
Cancers, Vol. 11, Núm. 8