2016

Scientific Articles

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

2015

Scientific Articles

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

2013

Scientific Articles

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

2012

Scientific Articles

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

Professional Articles

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

2010

Scientific Articles

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

2009

Scientific Articles

unige:19858

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Sharp, Andrew James; Guipponi, Michel; Fuchs, Katrin; Malafosse, Alain;