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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
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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
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Chromatin three-dimensional interactions mediate genetic effects on gene expression Delaneau, Olivier; Zazhytska, M; Borel, Christelle; Giannuzzi, G; ... Dermitzakis, Emmanouil 2019
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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
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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
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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
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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
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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
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The effect of genetic variation on promoter usage and enhancer activity Garieri, Marco; Delaneau, Olivier; Santoni, Federico; Fish, Richard; ... Fort, Alexandre 2017
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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
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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
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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
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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
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Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells Liu, Yansheng; Borel, Christelle; Li, Li; Müller, Torsten; ... Aebersold, Ruedi 2017
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APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication Seplyarskiy, Vladimir B; Soldatov, Ruslan A; Popadin, Konstantin; Antonarakis, Stylianos; ... Nikolaev, Sergey Igorievich 2016
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HGVS Recommendations for the Description of Sequence Variants: 2016 Update den Dunnen, Johan T; Dalgleish, Raymond; Maglott, Donna R; Hart, Reece K; ... Taschner, Peter E M 2016
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Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko 2016
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Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders Fokstuen, Siv; Makrythanasis, Periklis; Hammar Bouveret, Eva; Guipponi, Michel; ... Antonarakis, Stylianos 2016
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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
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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy Assoum, Mirna; Philippe, Christophe; Isidor, Bertrand; Perrin, Laurence; ... Thevenon, Julien 2016
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