| | 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:154133 |
A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family |
Guipponi, Michel; Masclaux, Frédéric; Sloan Bena, Frédérique; Di Sanza, Corinne; ... Neerman Arbez, Marguerite |
2021 |
|
unige:77371 |
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) |
Giorgio, Elisa; Robyr, Daniel; Spielmann, Malte; Ferrero, Enza; ... Brusco, Alfredo |
2015 |
|
unige:34641 |
A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas |
Nikolaev, Sergey Igorievich; Sotiriou, Sotirios K; Pateras, Ioannis S; Santoni, Federico; ... Halazonetis, Thanos |
2012 |
|
unige:19112 |
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss |
Guipponi, Michel; Toh, Min-Yen; Tan, Justin; Park, Daeho; ... Scott, Hamish Steele |
2008 |
|
unige:8887 |
Association of the connexin36 gene with juvenile myoclonic epilepsy |
Mas, Christophe; Taske, N.; Deutsch, Samuel; Guipponi, Michel; ... Meda, Paolo |
2004 |
|
unige:154577 |
Benefits of exome sequencing in children with suspected isolated hearing loss |
Van Heurck, Roxane; Carminho Amaro Rodrigues, Maria Teresa; Ranza, Emmanuelle Nathalie; Stafuzza, Caterina; ... Giacobino, Ariane |
2021 |
|
unige:159455 |
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis |
Marconi, Caroline Baya Catherine; Lemmens, Laure; Masclaux, Frédéric; Mattioli, Francesca; ... Fokstuen, Siv |
2021 |
|
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:77355 |
Biased allelic expression in human primary fibroblast single cells |
Borel, Christelle; Ferreira Marinheiro, Pedro; Santoni, Federico; Delaneau, Olivier; ... Antonarakis, Stylianos |
2015 |
|
unige:8771 |
C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning |
Guipponi, Michel; Brunschwig, K.; Chamoun, Z.; Scott, Hamish Steele; ... Antonarakis, Stylianos |
2000 |
|
unige:34664 |
Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences |
Robyr, Daniel; Friedli, Marc; Gehrig, Corinne; Arcangeli, Mélanie; ... Antonarakis, Stylianos |
2011 |
|
unige:151823 |
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome) |
Carminho Amaro Rodrigues, Maria Teresa; Steel, Dora; Sousa, Sergio B; Brandt, Gregor; ... Bally, Julien |
2020 |
|
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:77374 |
Copy number variants and therapeutic response to antidepressant medication in major depressive disorder |
Tansey, K E; Rucker, J J H; Kavanagh, D H; Guipponi, Michel; ... Uher, R |
2014 |
|
unige:42302 |
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families |
Makrythanasis, Periklis; Nelis, Mari; Santoni, Federico; Guipponi, Michel; ... Hamamy, Hanan |
2014 |
|
unige:77402 |
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins |
Sailani, Mohammad Reza; Santoni, Federico; Letourneau, Audrey; Borel, Christelle; ... Antonarakis, Stylianos |
2015 |
|
unige:42268 |
Domains of genome-wide gene expression dysregulation in Down's syndrome |
Letourneau, Audrey; Santoni, Federico; Bonilla Bustillo, Ximena; Sailani, Mohammad Reza; ... Antonarakis, Stylianos |
2014 |
|
unige:8821 |
Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP |
Hussain, N. K.; Jenna, S.; Glogauer, M.; Quinn, C. C.; ... McPherson, P. S. |
2001 |
|
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 |
Guipponi, Michel
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