| | Title | Authors / Editors | Date |
|
unige:143479 |
De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsy |
Humbert, Jonathan; Salian, Smrithi; Makrythanasis, Periklis; Lemire, Gabrielle; ... Campeau, Philippe M |
2020 |
|
unige:154959 |
SCN8A heterozygous variants are associated with anoxic-epileptic seizures |
Ranza, Emmanuelle Nathalie; Z'Graggen, Werner; Lidgren, Mathias; Beghetti, Maurice; ... Korff, Christian |
2020 |
|
unige:142242 |
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency |
Ansar, Muhammad; Ranza, Emmanuelle Nathalie; Shetty, Madhur; Paracha, Sohail A; ... Antonarakis, Stylianos |
2020 |
|
unige:144664 |
Chromatin three-dimensional interactions mediate genetic effects on gene expression |
Delaneau, Olivier; Zazhytska, M; Borel, Christelle; Giannuzzi, G; ... Dermitzakis, Emmanouil |
2019 |
|
unige:109602 |
Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing |
Stevant, Isabelle; Neirijnck, Yasmine; Borel, Christelle; Escoffier Breancon, Jessica; ... Nef, Serge |
2018 |
|
unige:108120 |
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder |
Varvagiannis, Konstantinos; Hanquinet, Sylviane; Billieux, M; De Luca, R; ... Fokstuen, Siv |
2018 |
|
unige:123733 |
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother |
Lambert, Nelle; Dauve, Corinne; Ranza, Emmanuelle Nathalie; Makrythanasis, Periklis; ... Giacobino, Ariane |
2018 |
|
unige:100052 |
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay |
Ansar, Muhammad; Riazuddin, Saima; Sarwar, Muhammad Tahir; Makrythanasis, Periklis; ... Antonarakis, Stylianos |
2018 |
|
unige:112678 |
MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets |
Fort, Alexandre; Panousis, Nikolaos; Garieri, Marco; Antonarakis, Stylianos; ... Delaneau, Olivier |
2017 |
|
unige:112641 |
The effect of genetic variation on promoter usage and enhancer activity |
Garieri, Marco; Delaneau, Olivier; Santoni, Federico; Fish, Richard; ... Fort, Alexandre |
2017 |
|
unige:112668 |
The genomic landscape of human cellular circadian variation points to a novel role for the signalosome |
Gaspar, Ludmila; Howald, Cédric; Popadin, Konstantin; Maier, Bert; ... Brown, Steven A |
2017 |
|
unige:98401 |
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy |
Ranza, Emmanuelle Nathalie; Garcia-Tarodo, Stéphanie; Varvagiannis, Konstantinos; Guipponi, Michel; ... Korff, Christian |
2017 |
|
unige:100026 |
Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells |
Liu, Yansheng; Borel, Christelle; Li, Li; Müller, Torsten; ... Aebersold, Ruedi |
2017 |
|
unige:98395 |
Germline PMS2 and somatic POLEexo mutations cause hypermutability of the leading DNA strand in Biallelic Mismatch Repair Deficiency syndrome brain tumors |
Andrianova, Maria A; Chetan, Ghati Kasturirangan; Sibin, Madathan Kandi; Mckee, Thomas Alexander; ... Nikolaev, Sergey Igorievich |
2017 |
|
unige:97043 |
No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients |
Guipponi, Michel; Santoni, Federico; Schneider, Maude; Gehrig, C; ... Antonarakis, Stylianos |
2017 |
|
unige:79366 |
Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation |
Nicastro, Nicolas; Ranza, Emmanuelle Nathalie; Antonarakis, Stylianos; Horvath, Judit |
2016 |
|
unige:88981 |
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing |
Ferreira, Pedro G; Oti, Martin; Barann, Matthias; Wieland, Thomas; ... Sammeth, Michael |
2016 |
|
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:88995 |
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree |
Makrythanasis, Periklis; Guipponi, Michel; Santoni, Federico; Zaki, Maha; ... Antonarakis, Stylianos |
2016 |
|
unige:88998 |
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders |
Fokstuen, Siv; Makrythanasis, Periklis; Hammar Bouveret, Eva; Guipponi, Michel; ... Antonarakis, Stylianos |
2016 |
Antonarakis, Stylianos
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