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 TitleAuthors / EditorsDate
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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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A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure Sung, Yun Ju; de Las Fuentes, Lisa; Winkler, Thomas W; Chasman, Daniel I; ... Morrison, Alanna C 2019
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Deletion size analysis of 1,680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2 Guo, Tingwei; Diacou, Alexander; Hiroko, Nomaru; McDonald-McGinn, Donna M; ... Morrow, Bernice E 2018
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Age-dependent changes in mean and variance of gene expression across tissues in a twin cohort Vinuela Rodriguez, Ana; Brown, Andrew Anand; Buil Demur, Alfonso Alberto; Tsai, Pei-Chien; ... Small, Kerrin S 2018
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Identification of the molecular dysfunction caused by glutamate dehydrogenase S445L mutation responsible for hyperinsulinism/hyperammonemia Grimaldi, Mariagrazia; Karaca Emre, Melis; Latini, Livia; Brioudes, Estelle; ... Maechler, Pierre 2017
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Mapping eQTLs with RNA-seq reveals novel susceptibility genes, non-coding RNAs and alternative-splicing events in systemic lupus erythematosus Odhams, Christopher A.; Cortini, Andrea; Chen, Lingyan; Roberts, Amy L.; ... Cunninghame Graham, Deborah S. 2017
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Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP. Escoffier Breancon, Jessica; Lee, Hoi Chang; Yassine, Sandra; Zouari, Raoudha; ... Arnoult, Christophe 2016
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Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior Cornelis, Marilyn C; Kacprowski, Tim; Menni, Cristina; Gustafsson, Stefan; ... Ingelsson, E 2016
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Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder Hou, Liping; Bergen, Sarah E; Akula, Nirmala; Song, Jie; ... Landén, Mikael 2016
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Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis Hinds, David A; Buil Demur, Alfonso Alberto; Ziemek, Daniel; Martinez-Perez, Angel; ... Sabater-Lleal, Maria 2016
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Galanin pathogenic mutations in temporal lobe epilepsy Guipponi, Michel; Chentouf, Amina; Webling, Kristin E B; Freimann, Krista; ... Antonarakis, Stylianos 2015
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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
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Diabetogenic milieus induce specific changes in mitochondrial transcriptome and differentiation of human pancreatic islets Brun, Thierry; Li, Ning; Jourdain, Alexis; Gaudet, Pascale; ... Maechler, Pierre 2015
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Identification of novel genes for glucose metabolism based upon expression pattern in human islets and effect on insulin secretion and glycemia Taneera, J.; Fadista, J.; Ahlqvist, E; Atac, D.; ... Groop, L. 2015
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TCF7L2 is a master regulator of insulin production and processing Zhou, Yuedan; Park, Soo-Young; Su, Jing; Bailey, Kathleen; ... Hansson, Ola 2014
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SUCLG2 identified as both a determinator of CSF Aβ1-42 levels and an attenuator of cognitive decline in Alzheimer's disease Ramirez, Alfredo; van der Flier, Wiesje M; Herold, Christine; Ramonet, David 2014
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A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A. Lane, Jérôme; Boehlen, Françoise 2013
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ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm Yahyavi, Mani; Abouzeid, Hana; Gawdat, Ghada; de Preux, Anne-Sophie; ... Slavotinek, Anne M. 2013
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A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease Holmans, Peter; Moskvina, Valentina; Jones, Lesley; Sharma, Manu; ... Morris, Huw R 2013
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Loci influencing blood pressure identified using a cardiovascular gene-centric array Ganesh, Santhi K; Tragante, Vinicius; Guo, Wei 2013
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