Search Results - "Wenger M."

Cerebral organoids at the air–liquid interface generate diverse nerve tracts with functional output by Giandomenico, Stefano L., Mierau, Susanna B., Gibbons, George M., Wenger, Lea M. D., Masullo, Laura, Sit, Timothy, Sutcliffe, Magdalena, Boulanger, Jerome, Tripodi, Marco, Derivery, Emmanuel, Paulsen, Ole, Lakatos, András, Lancaster, Madeline A.

“…Neural organoids have the potential to improve our understanding of human brain development and neurological disorders. However, it remains to be seen whether…”
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Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers by Wenger, Aaron M., Guturu, Harendra, Bernstein, Jonathan A., Bejerano, Gill

“…Clinical exome sequencing is nondiagnostic for about 75% of patients evaluated for a possible Mendelian disorder. We examined the ability of systematic…”
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M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity by Jagadeesh, Karthik A, Wenger, Aaron M, Berger, Mark J, Guturu, Harendra, Stenson, Peter D, Cooper, David N, Bernstein, Jonathan A, Bejerano, Gill

“…Gill Bejerano and colleagues present M-CAP, a classifier that estimates variant pathogenicity in clinical exome data sets. They show that M-CAP outperforms…”
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Human ALS/FTD brain organoid slice cultures display distinct early astrocyte and targetable neuronal pathology by Szebényi, Kornélia, Wenger, Léa M. D., Sun, Yu, Dunn, Alexander W. E., Limegrover, Colleen A., Gibbons, George M., Conci, Elena, Paulsen, Ole, Mierau, Susanna B., Balmus, Gabriel, Lakatos, András

“…Amyotrophic lateral sclerosis overlapping with frontotemporal dementia (ALS/FTD) is a fatal and currently untreatable disease characterized by rapid cognitive…”
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Human-specific loss of regulatory DNA and the evolution of human-specific traits by Bejerano, Gill, Kingsley, David M, McLean, Cory Y, Reno, Philip L, Pollen, Alex A, Bassan, Abraham I, Capellini, Terence D, Guenther, Catherine, Indjeian, Vahan B, Lim, Xinhong, Menke, Douglas B, Schaar, Bruce T, Wenger, Aaron M

“…Humans differ from other animals in many aspects of anatomy, physiology, and behaviour; however, the genotypic basis of most human-specific traits remains…”
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AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature by Birgmeier, Johannes, Haeussler, Maximilian, Deisseroth, Cole A, Steinberg, Ethan H, Jagadeesh, Karthik A, Ratner, Alexander J, Guturu, Harendra, Wenger, Aaron M, Diekhans, Mark E, Stenson, Peter D, Cooper, David N, Ré, Christopher, Beggs, Alan H, Bernstein, Jonathan A, Bejerano, Gill

“…The diagnosis of Mendelian disorders requires labor-intensive literature research. Trained clinicians can spend hours looking for the right publication(s)…”
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Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads by Vollger, Mitchell R., Logsdon, Glennis A., Audano, Peter A., Sulovari, Arvis, Porubsky, David, Peluso, Paul, Wenger, Aaron M., Concepcion, Gregory T., Kronenberg, Zev N., Munson, Katherine M., Baker, Carl, Sanders, Ashley D., Spierings, Diana C.J., Lansdorp, Peter M., Surti, Urvashi, Hunkapiller, Michael W., Eichler, Evan E.

“…The sequence and assembly of human genomes using long‐read sequencing technologies has revolutionized our understanding of structural variation and genome…”
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Microbiota modulate transcription in the intestinal epithelium without remodeling the accessible chromatin landscape by Camp, J Gray, Frank, Christopher L, Lickwar, Colin R, Guturu, Harendra, Rube, Tomas, Wenger, Aaron M, Chen, Jenny, Bejerano, Gill, Crawford, Gregory E, Rawls, John F

“…Microbiota regulate intestinal physiology by modifying host gene expression along the length of the intestine, but the underlying regulatory mechanisms remain…”
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Approaches to long-read sequencing in a clinical setting to improve diagnostic rate by Sanford Kobayashi, Erica, Batalov, Serge, Wenger, Aaron M., Lambert, Christine, Dhillon, Harsharan, Hall, Richard J., Baybayan, Primo, Ding, Yan, Rego, Seema, Wigby, Kristen, Friedman, Jennifer, Hobbs, Charlotte, Bainbridge, Matthew N.

“…Over the past decade, advances in genetic testing, particularly the advent of next-generation sequencing, have led to a paradigm shift in the diagnosis of…”
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Coding exons function as tissue-specific enhancers of nearby genes by Birnbaum, Ramon Y, Clowney, E Josephine, Agamy, Orly, Kim, Mee J, Zhao, Jingjing, Yamanaka, Takayuki, Pappalardo, Zachary, Clarke, Shoa L, Wenger, Aaron M, Nguyen, Loan, Gurrieri, Fiorella, Everman, David B, Schwartz, Charles E, Birk, Ohad S, Bejerano, Gill, Lomvardas, Stavros, Ahituv, Nadav

“…Enhancers are essential gene regulatory elements whose alteration can lead to morphological differences between species, developmental abnormalities, and human…”
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Endometriosis after menopause: physiopathology and management of an uncommon condition by Streuli, I., Gaitzsch, H., Wenger, J-M., Petignat, P.

“…Endometriosis is a hormone-dependent inflammatory disease that is usually characterized by infertility and pain symptoms. This disease mainly occurs during the…”
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Structure and function of respiratory turbinates in phocid seals by Mason, Matthew J., Wenger, Léa M. D., Hammer, Øyvind, Blix, Arnoldus S.

“…In terrestrial mammals, the respiratory turbinate bones within the nasal cavity are employed to conserve heat and water. In order to investigate whether…”
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Invasive Lobular Carcinoma: A Review of Imaging Modalities with Special Focus on Pathology Concordance by Pereslucha, Alicia M, Wenger, Danielle M, Morris, Michael F, Aydi, Zeynep Bostanci

“…Invasive lobular cancer (ILC) is the second most common type of breast cancer. It is characterized by a unique growth pattern making it difficult to detect on…”
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Context-dependent neural responses to minor notes in frontal and temporal regions distinguish musicians from nonmusicians by Centanni, T. M., Halpern, A. R., Seisler, A. R., Wenger, M. J.

“…Musical training is required for individuals to correctly label musical modes using the terms “major” and “minor,” whereas no training is required to label…”
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Comprehensive de novo mutation discovery with HiFi long-read sequencing by Kucuk, Erdi, van der Sanden, Bart P G H, O'Gorman, Luke, Kwint, Michael, Derks, Ronny, Wenger, Aaron M, Lambert, Christine, Chakraborty, Shreyasee, Baybayan, Primo, Rowell, William J, Brunner, Han G, Vissers, Lisenka E L M, Hoischen, Alexander, Gilissen, Christian

“…Long-read sequencing (LRS) techniques have been very successful in identifying structural variants (SVs). However, the high error rate of LRS made the…”
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Multi-platform discovery of haplotype-resolved structural variation in human genomes by Chaisson, Mark J. P., Sanders, Ashley D., Zhao, Xuefang, Malhotra, Ankit, Porubsky, David, Rausch, Tobias, Gardner, Eugene J., Rodriguez, Oscar L., Guo, Li, Collins, Ryan L., Fan, Xian, Wen, Jia, Handsaker, Robert E., Fairley, Susan, Kronenberg, Zev N., Kong, Xiangmeng, Hormozdiari, Fereydoun, Lee, Dillon, Wenger, Aaron M., Hastie, Alex R., Antaki, Danny, Anantharaman, Thomas, Audano, Peter A., Brand, Harrison, Cantsilieris, Stuart, Cao, Han, Cerveira, Eliza, Chen, Chong, Chen, Xintong, Chin, Chen-Shan, Chong, Zechen, Chuang, Nelson T., Lambert, Christine C., Church, Deanna M., Clarke, Laura, Farrell, Andrew, Flores, Joey, Galeev, Timur, Gorkin, David U., Gujral, Madhusudan, Guryev, Victor, Heaton, William Haynes, Korlach, Jonas, Kumar, Sushant, Kwon, Jee Young, Lam, Ernest T., Lee, Jong Eun, Lee, Joyce, Lee, Wan-Ping, Lee, Sau Peng, Li, Shantao, Marks, Patrick, Viaud-Martinez, Karine, Meiers, Sascha, Munson, Katherine M., Navarro, Fabio C. P., Nelson, Bradley J., Nodzak, Conor, Noor, Amina, Kyriazopoulou-Panagiotopoulou, Sofia, Pang, Andy W. C., Qiu, Yunjiang, Rosanio, Gabriel, Ryan, Mallory, Stütz, Adrian, Spierings, Diana C. J., Ward, Alistair, Welch, AnneMarie E., Xiao, Ming, Xu, Wei, Zhang, Chengsheng, Zhu, Qihui, Zheng-Bradley, Xiangqun, Lowy, Ernesto, Yakneen, Sergei, McCarroll, Steven, Jun, Goo, Ding, Li, Koh, Chong Lek, Ren, Bing, Flicek, Paul, Chen, Ken, Gerstein, Mark B., Kwok, Pui-Yan, Lansdorp, Peter M., Marth, Gabor T., Sebat, Jonathan, Shi, Xinghua, Bashir, Ali, Ye, Kai, Devine, Scott E., Talkowski, Michael E., Mills, Ryan E., Marschall, Tobias, Korbel, Jan O., Eichler, Evan E., Lee, Charles

“…The incomplete identification of structural variants (SVs) from whole-genome sequencing data limits studies of human genetic diversity and disease association…”
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A novel assistive therapy chair to improve trunk control during neurorehabilitation: Perceptions of physical therapists and patients by Bauer, C.M., Nast, I., Scheermesser, M., Kuster, R.P., Textor, D., Wenger, M., Kool, J., Baumgartner, D.

“…A prototype assistive therapy chair (T-Chair) that induces exercise stimuli to improve trunk control and standing and walking early after stroke has been…”
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Human developmental enhancers conserved between deuterostomes and protostomes by Clarke, Shoa L, VanderMeer, Julia E, Wenger, Aaron M, Schaar, Bruce T, Ahituv, Nadav, Bejerano, Gill

“…The identification of homologies, whether morphological, molecular, or genetic, is fundamental to our understanding of common biological principles. Homologies…”
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A crowdsourced set of curated structural variants for the human genome by Chapman, Lesley M, Spies, Noah, Pai, Patrick, Lim, Chun Shen, Carroll, Andrew, Narzisi, Giuseppe, Watson, Christopher M, Proukakis, Christos, Clarke, Wayne E, Nariai, Naoki, Dawson, Eric, Jones, Garan, Blankenberg, Daniel, Brueffer, Christian, Xiao, Chunlin, Kolora, Sree Rohit Raj, Alexander, Noah, Wolujewicz, Paul, Ahmed, Azza E, Smith, Graeme, Shehreen, Saadlee, Wenger, Aaron M, Salit, Marc, Zook, Justin M

“…A high quality benchmark for small variants encompassing 88 to 90% of the reference genome has been developed for seven Genome in a Bottle (GIAB) reference…”
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Status of bloodborne pathogen education for injection drug users in Indiana hospital emergency departments by Wenger, M

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