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Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24
TLDR
Using a multistage genetic association approach comprising 7,480 affected individuals and 7,779 controls, markers in chromosomal region 8q24 associated with colorectal cancer were identified and this locus has been implicated in prostate cancer.
Identification of SLC39A4, a gene involved in acrodermatitis enteropathica
TLDR
The chromosomal location and expression of SLC39A4, together with mutational analysis of eight families affected with acrodermatitis enteropathica, suggest that SLC 39A4 is centrally involved in the pathogenesis of this condition.
Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study
TLDR
The identification of CRC-predisposing combinations, composed of alleles PTGS1 c.639A, PLA2G2A c.435+230C, PPARG c.1431C, IL8 c.-352A, and MTHFR c.1286C, highlights the importance of inflammatory processes in susceptibility to sporadic CRC, as well as a possible crosstalk between inflammation and one-carbon pathways.
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death
TLDR
The association signals at SCN5A-SCN10A demonstrate that genetic polymorphisms modulating cardiac conduction can also influence susceptibility to cardiac arrhythmia and indicate that common genetic variation can have a strong impact on the predisposition to rare diseases.
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis
TLDR
All mutations cluster to the last coding exon of the gene, suggesting that the mutant mRNA products escape nonsense-mediated decay and that the resulting truncated NOTCH2 proteins act in a gain-of-function manner.
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
TLDR
Phenotypic analysis of the patients carrying the recurrent p.(Gly375Arg) de novo missense LoF variant revealed a novel syndromic neurodevelopmental disorder associated with severe developmental delay, visceral and cardiac malformations, connective tissue presentations with arterial involvement, bone dysplasia and characteristic dysmorphic features.
Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura.
TLDR
Pregnancy-onset TTP defines a specific subgroup of patients with a strong genetic background that is associated with very high TTP relapse and abortion rates, whereas prophylactic plasmatherapy was beneficial for both the mother and the baby.
Discovery of common and rare genetic risk variants for colorectal cancer
TLDR
Genome-wide association analyses based on whole-genome sequencing and imputation identify 40 new risk variants for colorectal cancer, including a strongly protective low-frequency variant at CHD1 and loci implicating signaling and immune function in disease etiology.
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