Medicina Xenómica
GMX - USC
![Foto de Jorge](/img/nophoto.png)
Jorge
Amigo Lechuga
Publicacións nas que colabora con Jorge Amigo Lechuga (44)
2023
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A crowdsourcing database for the copy-number variation of the Spanish population
Human Genomics, Vol. 17, Núm. 1
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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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Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing
Molecular Diagnosis and Therapy, Vol. 27, Núm. 1, pp. 105-113
2022
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Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
European Journal of Human Genetics, Vol. 30, Núm. 8, pp. 938-945
2021
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CSVS, a crowdsourcing database of the Spanish population genetic variability
Nucleic acids research, Vol. 49, Núm. D1, pp. D1130-D1137
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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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Exploring the biological role of postzygotic and germinal de novo mutations in ASD
Scientific Reports, Vol. 11, Núm. 1
2020
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A compilation of tri-allelic SNPs from 1000 Genomes and use of the most polymorphic loci for a large-scale human identification panel
Forensic Science International: Genetics, Vol. 46
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Broadening the Applicability of a Custom Multi-Platform Panel of Microhaplotypes: Bio-Geographical Ancestry Inference and Expanded Reference Data
Frontiers in Genetics, Vol. 11
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Building a custom large-scale panel of novel microhaplotypes for forensic identification using MiSeq and Ion S5 massively parallel sequencing systems
Forensic Science International: Genetics, Vol. 45
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Longitudinal analysis on parasite diversity in honeybee colonies: new taxa, high frequency of mixed infections and seasonal patterns of variation
Scientific Reports, Vol. 10, Núm. 1
2019
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Early colorectal cancers provide new evidence for a lynch syndrome-to-CMMRD phenotypic continuum
Cancers, Vol. 11, Núm. 8
2018
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Identification of genes carrying rare variants of moderate to large effect in schizophrenia: A replication study
Schizophrenia Research
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Identification of putative second genetic hits in schizophrenia carriers of high-risk copy number variants and resequencing in additional samples
European Archives of Psychiatry and Clinical Neuroscience, Vol. 268, Núm. 6, pp. 585-592
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tagFinder: A Novel Tag Analysis Methodology That Enables Detection of Molecules from DNA-Encoded Chemical Libraries
SLAS Discovery, Vol. 23, Núm. 5, pp. 397-404
2017
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Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants
Molecular Diagnosis and Therapy, Vol. 21, Núm. 3, pp. 303-313
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Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection
International Journal of Legal Medicine, Vol. 131, Núm. 5, pp. 1211-1219
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Whole Exome Sequencing reveals new candidate genes in host genomic susceptibility to Respiratory Syncytial Virus Disease
Scientific Reports, Vol. 7, Núm. 1
2016
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Comprehensive molecular testing in patients with high functioning autism spectrum disorder
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, Vol. 784-785, pp. 46-52
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Targeted resequencing of regulatory regions at schizophrenia risk loci: Role of rare functional variants at chromatin repressive states
Schizophrenia Research, Vol. 174, Núm. 1-3, pp. 10-16