Medicina Xenómica
GMX - USC
![Foto de Medicina Xenómica](/img/grupo.png)
![Foto de University of Illinois at Chicago](/img/noimage_org.png)
University of Illinois at Chicago
Chicago, Estados UnidosPublicacións en colaboración con investigadores/as de University of Illinois at Chicago (30)
2022
-
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Nature Genetics, Vol. 54, Núm. 9, pp. 1320-1331
2020
-
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
-
Candidate predisposing germline copy number variants in early onset colorectal cancer patients
Clinical and Translational Oncology, Vol. 19, Núm. 5, pp. 625-632
2016
-
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
-
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
-
Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer
Cancer, Vol. 121, Núm. 9, pp. 1395-1404
2014
-
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
-
Multiple sporadic colorectal cancers display a unique methylation phenotype
PLoS ONE, Vol. 9, Núm. 3
-
Synaptic, transcriptional and chromatin genes disrupted in autism
Nature, Vol. 515, Núm. 7526, pp. 209-215
-
The MLH1c.1852-1853delinsGC (p.K618A) variant in colorectal cancer: Genetic association study in 18,723 individuals
PLoS ONE, Vol. 9, Núm. 4
2013
-
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
-
BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern european populations
Carcinogenesis, Vol. 34, Núm. 2, pp. 314-318
-
BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency
Clinical Genetics
-
Genetic susceptibility variants associated with colorectal cancer prognosis
Carcinogenesis, Vol. 34, Núm. 10, pp. 2286-2291
-
Meta-Analysis of Mismatch Repair Polymorphisms within the Cogent Consortium for Colorectal Cancer Susceptibility
PLoS ONE, Vol. 8, Núm. 9
-
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
-
Risk of cancer in cases of suspected lynch syndrome without germline mutation
Gastroenterology, Vol. 144, Núm. 5
2012
-
COGENT (COlorectal cancer GENeTics) revisited
Mutagenesis, Vol. 27, Núm. 2, pp. 143-151
-
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
-
Seeking genetic susceptibility variants for colorectal cancer: The EPICOLON consortium experience
Mutagenesis, Vol. 27, Núm. 2, pp. 153-159