| Title | Authors / Editors | Date |
unige:19858 |
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy |
Sharp, Andrew James; Guipponi, Michel; Fuchs, Katrin; Malafosse, Alain |
2009 |
unige:88992 |
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome |
Joshi, Ricky S; Garg, Paras; Zaitlen, Noah; Lappalainen, Tuuli Emilia; ... Sharp, Andrew James |
2016 |
unige:34647 |
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele |
Radhakrishna, Uppala; Nath, Swapan K; McElreavey, Ken; Ratnamala, Uppala; ... Butler, Merlin G |
2012 |
unige:21311 |
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15 |
Sharp, Andrew James; Migliavacca, Eugenia; Dupre, Yann; Stathaki, Elisavet; ... Antonarakis, Stylianos |
2010 |
unige:77373 |
Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region |
Brault, Véronique; Duchon, Arnaud; Romestaing, Caroline; Sahun, Ignasi; ... Herault, Yann |
2015 |
unige:32162 |
Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB. |
Borel, Christelle; Migliavacca Voeffray, Eugenia Linda; Letourneau, Audrey; Gagnebin, Maryline; ... Antonarakis, Stylianos |
2012 |
unige:34338 |
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome |
Sailani, Mohammad Reza; Makrythanasis, Periklis; Valsesia, Armand; Santoni, Federico; ... Antonarakis, Stylianos |
2013 |