Search Results - "Georgi, Benjamin"

From mouse to human: evolutionary genomics analysis of human orthologs of essential genes by Georgi, Benjamin, Voight, Benjamin F, Bućan, Maja

“…Understanding the core set of genes that are necessary for basic developmental functions is one of the central goals in biology. Studies in model organisms…”
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Incomplete and inaccurate vocal imitation after knockdown of FoxP2 in songbird basal ganglia nucleus Area X by Haesler, Sebastian, Rochefort, Christelle, Georgi, Benjamin, Licznerski, Pawel, Osten, Pavel, Scharff, Constance

“…The gene encoding the forkhead box transcription factor, FOXP2, is essential for developing the full articulatory power of human language. Mutations of FOXP2…”
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Smoking induces sex-specific changes in the small airway proteome by Kokelj, Spela, Östling, Jörgen, Georgi, Benjamin, Fromell, Karin, Ekdahl, Kristina Nilsson, Olsson, Henric K, Olin, Anna-Carin

“…Cigarette smoke triggers many cellular and signaling responses in the lung and the resulting inflammation plays a central role in smoke-related lung diseases,…”
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Genomic view of bipolar disorder revealed by whole genome sequencing in a genetic isolate by Georgi, Benjamin, Craig, David, Kember, Rachel L, Liu, Wencheng, Lindquist, Ingrid, Nasser, Sara, Brown, Christopher, Egeland, Janice A, Paul, Steven M, Bućan, Maja

“…Bipolar disorder is a common, heritable mental illness characterized by recurrent episodes of mania and depression. Despite considerable effort to elucidate…”
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A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder by Strauss, Kevin A, Markx, Sander, Georgi, Benjamin, Paul, Steven M, Jinks, Robert N, Hoshi, Toshinori, McDonald, Ann, First, Michael B, Liu, Wencheng, Benkert, Abigail R, Heaps, Adam D, Tian, Yutao, Chakravarti, Aravinda, Bucan, Maja, Puffenberger, Erik G

“…We conducted blinded psychiatric assessments of 26 Amish subjects (52 ± 11 years) from four families with prevalent bipolar spectrum disorder, identified 10…”
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PyMix--the python mixture package--a tool for clustering of heterogeneous biological data by Georgi, Benjamin, Costa, Ivan Gesteira, Schliep, Alexander

“…Cluster analysis is an important technique for the exploratory analysis of biological data. Such data is often high-dimensional, inherently noisy and contains…”
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Rare variant contribution to human disease in 281,104 UK Biobank exomes by Wang, Quanli, Dhindsa, Ryan S., Carss, Keren, Harper, Andrew R., Nag, Abhishek, Tachmazidou, Ioanna, Vitsios, Dimitrios, Deevi, Sri V. V., Mackay, Alex, Muthas, Daniel, Hühn, Michael, Monkley, Susan, Olsson, Henric, Wasilewski, Sebastian, Smith, Katherine R., March, Ruth, Platt, Adam, Haefliger, Carolina, Petrovski, Slavé

“…Genome-wide association studies have uncovered thousands of common variants associated with human disease, but the contribution of rare variants to common…”
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Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder by Kember, Rachel L, Georgi, Benjamin, Bailey-Wilson, Joan E, Stambolian, Dwight, Paul, Steven M, Bućan, Maja

“…Bipolar affective disorder (BP) is a common, highly heritable psychiatric disorder characterized by periods of depression and mania. Using dense SNP genotype…”
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Leveraging Human Genetics to Estimate Clinical Risk Reductions Achievable by Inhibiting Factor XI by Georgi, Benjamin, Mielke, Johanna, Chaffin, Mark, Khera, Amit V, Gelis, Lian, Mundl, Hardi, van Giezen, J.J.J, Ellinor, Patrick, Kathiresan, Sekar, Ziegelbauer, Karl, Freitag, Daniel F

“…BACKGROUND AND PURPOSE—Coagulation factor XI (FXI) is a novel target for antithrombotic therapy addressed by various therapeutic modalities currently in…”
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Rare variant associations with plasma protein levels in the UK Biobank by Dhindsa, Ryan S., Burren, Oliver S., Sun, Benjamin B., Prins, Bram P., Matelska, Dorota, Wheeler, Eleanor, Mitchell, Jonathan, Oerton, Erin, Hristova, Ventzislava A., Smith, Katherine R., Carss, Keren, Wasilewski, Sebastian, Harper, Andrew R., Paul, Dirk S., Fabre, Margarete A., Runz, Heiko, Viollet, Coralie, Challis, Benjamin, Platt, Adam, Vitsios, Dimitrios, Ashley, Euan A., Whelan, Christopher D., Pangalos, Menelas N., Wang, Quanli, Petrovski, Slavé

“…Integrating human genomics and proteomics can help elucidate disease mechanisms, identify clinical biomarkers and discover drug targets 1 – 4 . Because…”
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Context-specific independence mixture modeling for positional weight matrices by Georgi, Benjamin, Schliep, Alexander

“…Motivation: A positional weight matrix (PWM) is a statistical representation of the binding pattern of a transcription factor estimated from known binding site…”
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Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences by Burren, Oliver S., Dhindsa, Ryan S., Deevi, Sri V. V., Wen, Sean, Nag, Abhishek, Mitchell, Jonathan, Hu, Fengyuan, Loesch, Douglas P., Smith, Katherine R., Razdan, Neetu, Olsson, Henric, Platt, Adam, Vitsios, Dimitrios, Wu, Qiang, Codd, Veryan, Nelson, Christopher P., Samani, Nilesh J., March, Ruth E., Wasilewski, Sebastian, Carss, Keren, Fabre, Margarete, Wang, Quanli, Pangalos, Menelas N., Petrovski, Slavé

“…Telomeres protect chromosome ends from damage and their length is linked with human disease and aging. We developed a joint telomere length metric, combining…”
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From Mouse to Human: Evolutionary Genomics Analysis of Human Orthologs of Essential Genes: e1003484 by Georgi, Benjamin, Voight, Benjamin F, Bucan, Maja

“…Understanding the core set of genes that are necessary for basic developmental functions is one of the central goals in biology. Studies in model organisms…”
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Genomic View of Bipolar Disorder Revealed by Whole Genome Sequencing in a Genetic Isolate: e1004229 by Georgi, Benjamin, Craig, David, Kember, Rachel L, Liu, Wencheng, Lindquist, Ingrid, Nasser, Sara, Brown, Christopher, Egeland, Janice A, Paul, Steven M, Bucan, Maja

“…Bipolar disorder is a common, heritable mental illness characterized by recurrent episodes of mania and depression. Despite considerable effort to elucidate…”
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Partially-supervised protein subclass discovery with simultaneous annotation of functional residues by Georgi, Benjamin, Schultz, Jörg, Schliep, Alexander

“…The study of functional subfamilies of protein domain families and the identification of the residues which determine substrate specificity is an important…”
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MACAT—microarray chromosome analysis tool by Toedling, Joern, Schmeier, Sebastian, Heinig, Matthias, Georgi, Benjamin, Roepcke, Stefan

“…By linking differential gene expression to the chromosomal localization of genes, one can investigate microarray data for characteristic patterns of expression…”
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Low-dose hyperradiosensitivity of human glioblastoma cell lines in vitro does not translate into improved outcome of ultrafractionated radiotherapy in vivo by Krause, Mechthild, Wohlfarth, Jana, Georgi, Benjamin, Pimentel, Nuno, Dorner, Daniela, Zips, Daniel, Eicheler, Wolfgang, Hessel, Franziska, Short, Susan C., Joiner, Michael C., Baumann, Michael

“…Purpose: Low dose hyperradiosensitivity (HRS) has been observed in HGL21- and T98G human glioblastoma cells in vitro. The present study investigates whether…”
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