Department of Forensic Science, Pathological Anatomy, Gynaecology and Obstetrics and Paediatrics
Department
University of Illinois at Chicago
Chicago, Estados UnidosPublications in collaboration with researchers from University of Illinois at Chicago (30)
2022
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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Nature Genetics, Vol. 54, Núm. 9, pp. 1320-1331
2020
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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
Cell, Vol. 180, Núm. 3, pp. 568-584.e23
2017
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Candidate predisposing germline copy number variants in early onset colorectal cancer patients
Clinical and Translational Oncology, Vol. 19, Núm. 5, pp. 625-632
2016
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Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC)
Carcinogenesis, Vol. 37, Núm. 8, pp. 751-758
2015
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Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer
Journal of Medical Genetics, Vol. 52, Núm. 7, pp. 498-502
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Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer
Cancer, Vol. 121, Núm. 9, pp. 1395-1404
2014
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A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer
Human Genetics, Vol. 133, Núm. 5, pp. 525-534
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Multiple sporadic colorectal cancers display a unique methylation phenotype
PLoS ONE, Vol. 9, Núm. 3
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Synaptic, transcriptional and chromatin genes disrupted in autism
Nature, Vol. 515, Núm. 7526, pp. 209-215
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The MLH1c.1852-1853delinsGC (p.K618A) variant in colorectal cancer: Genetic association study in 18,723 individuals
PLoS ONE, Vol. 9, Núm. 4
2013
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A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12
BMC Genomics, Vol. 14, Núm. 1
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BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern european populations
Carcinogenesis, Vol. 34, Núm. 2, pp. 314-318
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BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency
Clinical Genetics
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Genetic susceptibility variants associated with colorectal cancer prognosis
Carcinogenesis, Vol. 34, Núm. 10, pp. 2286-2291
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Meta-Analysis of Mismatch Repair Polymorphisms within the Cogent Consortium for Colorectal Cancer Susceptibility
PLoS ONE, Vol. 8, Núm. 9
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Pharmacogenomics in colorectal cancer: A genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration
Pharmacogenomics Journal, Vol. 13, Núm. 3, pp. 209-217
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Risk of cancer in cases of suspected lynch syndrome without germline mutation
Gastroenterology, Vol. 144, Núm. 5
2012
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COGENT (COlorectal cancer GENeTics) revisited
Mutagenesis, Vol. 27, Núm. 2, pp. 143-151
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Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer
Gut, Vol. 61, Núm. 6, pp. 865-872
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Seeking genetic susceptibility variants for colorectal cancer: The EPICOLON consortium experience
Mutagenesis, Vol. 27, Núm. 2, pp. 153-159