Zobrazeno 1 - 10
of 246
pro vyhledávání: '"David B Goldstein"'
Autor:
Sarah A Dugger, Ryan S Dhindsa, Gabriela De Almeida Sampaio, Andrew K Ressler, Elizabeth E Rafikian, Sabrina Petri, Verity A Letts, JiaJie Teoh, Junqiang Ye, Sophie Colombo, Yueqing Peng, Mu Yang, Michael J Boland, Wayne N Frankel, David B Goldstein
Publikováno v:
PLoS Genetics, Vol 19, Iss 10, p e1010952 (2023)
Heterozygous de novo loss-of-function mutations in the gene expression regulator HNRNPU cause an early-onset developmental and epileptic encephalopathy. To gain insight into pathological mechanisms and lay the potential groundwork for developing targ
Externí odkaz:
https://doaj.org/article/93dac0bdf894409681fb60b44fc34f59
Autor:
Guillaume Butler-Laporte, Gundula Povysil, Jack A Kosmicki, Elizabeth T Cirulli, Theodore Drivas, Simone Furini, Chadi Saad, Axel Schmidt, Pawel Olszewski, Urszula Korotko, Mathieu Quinodoz, Elifnaz Çelik, Kousik Kundu, Klaudia Walter, Junghyun Jung, Amy D Stockwell, Laura G Sloofman, Daniel M Jordan, Ryan C Thompson, Diane Del Valle, Nicole Simons, Esther Cheng, Robert Sebra, Eric E Schadt, Seunghee Kim-Schulze, Sacha Gnjatic, Miriam Merad, Joseph D Buxbaum, Noam D Beckmann, Alexander W Charney, Bartlomiej Przychodzen, Timothy Chang, Tess D Pottinger, Ning Shang, Fabian Brand, Francesca Fava, Francesca Mari, Karolina Chwialkowska, Magdalena Niemira, Szymon Pula, J Kenneth Baillie, Alex Stuckey, Antonio Salas, Xabier Bello, Jacobo Pardo-Seco, Alberto Gómez-Carballa, Irene Rivero-Calle, Federico Martinón-Torres, Andrea Ganna, Konrad J Karczewski, Kumar Veerapen, Mathieu Bourgey, Guillaume Bourque, Robert Jm Eveleigh, Vincenzo Forgetta, David Morrison, David Langlais, Mark Lathrop, Vincent Mooser, Tomoko Nakanishi, Robert Frithiof, Michael Hultström, Miklos Lipcsey, Yanara Marincevic-Zuniga, Jessica Nordlund, Kelly M Schiabor Barrett, William Lee, Alexandre Bolze, Simon White, Stephen Riffle, Francisco Tanudjaja, Efren Sandoval, Iva Neveux, Shaun Dabe, Nicolas Casadei, Susanne Motameny, Manal Alaamery, Salam Massadeh, Nora Aljawini, Mansour S Almutairi, Yaseen M Arabi, Saleh A Alqahtani, Fawz S Al Harthi, Amal Almutairi, Fatima Alqubaishi, Sarah Alotaibi, Albandari Binowayn, Ebtehal A Alsolm, Hadeel El Bardisy, Mohammad Fawzy, Fang Cai, Nicole Soranzo, Adam Butterworth, COVID-19 Host Genetics Initiative, DeCOI Host Genetics Group, GEN-COVID Multicenter Study (Italy), Mount Sinai Clinical Intelligence Center, GEN-COVID consortium (Spain), GenOMICC Consortium, Japan COVID-19 Task Force, Regeneron Genetics Center, Daniel H Geschwind, Stephanie Arteaga, Alexis Stephens, Manish J Butte, Paul C Boutros, Takafumi N Yamaguchi, Shu Tao, Stefan Eng, Timothy Sanders, Paul J Tung, Michael E Broudy, Yu Pan, Alfredo Gonzalez, Nikhil Chavan, Ruth Johnson, Bogdan Pasaniuc, Brian Yaspan, Sandra Smieszek, Carlo Rivolta, Stephanie Bibert, Pierre-Yves Bochud, Maciej Dabrowski, Pawel Zawadzki, Mateusz Sypniewski, Elżbieta Kaja, Pajaree Chariyavilaskul, Voraphoj Nilaratanakul, Nattiya Hirankarn, Vorasuk Shotelersuk, Monnat Pongpanich, Chureerat Phokaew, Wanna Chetruengchai, Katsushi Tokunaga, Masaya Sugiyama, Yosuke Kawai, Takanori Hasegawa, Tatsuhiko Naito, Ho Namkoong, Ryuya Edahiro, Akinori Kimura, Seishi Ogawa, Takanori Kanai, Koichi Fukunaga, Yukinori Okada, Seiya Imoto, Satoru Miyano, Serghei Mangul, Malak S Abedalthagafi, Hugo Zeberg, Joseph J Grzymski, Nicole L Washington, Stephan Ossowski, Kerstin U Ludwig, Eva C Schulte, Olaf Riess, Marcin Moniuszko, Miroslaw Kwasniewski, Hamdi Mbarek, Said I Ismail, Anurag Verma, David B Goldstein, Krzysztof Kiryluk, Alessandra Renieri, Manuel A R Ferreira, J Brent Richards
Publikováno v:
PLoS Genetics, Vol 18, Iss 11, p e1010367 (2022)
Host genetics is a key determinant of COVID-19 outcomes. Previously, the COVID-19 Host Genetics Initiative genome-wide association study used common variants to identify multiple loci associated with COVID-19 outcomes. However, variants with the larg
Externí odkaz:
https://doaj.org/article/5f79e367675d482a9faf89902afbc030
Autor:
Ian R White, Sarah E Kleinstein, Christophe Praet, Chris Chamberlain, Duncan McHale, Jessica M Maia, Pingxing Xie, David B Goldstein, Thomas J Urban, Patrick R Shea
Publikováno v:
PLoS ONE, Vol 17, Iss 4, p e0261165 (2022)
Certolizumab pegol (CZP) is a PEGylated Fc-free tumor necrosis factor (TNF) inhibitor antibody approved for use in the treatment of rheumatoid arthritis (RA), Crohn's disease, psoriatic arthritis, axial spondyloarthritis and psoriasis. In a clinical
Externí odkaz:
https://doaj.org/article/59bffc3d65fc488684c0f271a7caf0b1
Autor:
Sahar Gelfman, Quanli Wang, Yi-Fan Lu, Diana Hall, Christopher D Bostick, Ryan Dhindsa, Matt Halvorsen, K Melodi McSweeney, Ellese Cotterill, Tom Edinburgh, Michael A Beaumont, Wayne N Frankel, Slavé Petrovski, Andrew S Allen, Michael J Boland, David B Goldstein, Stephen J Eglen
Publikováno v:
PLoS Computational Biology, Vol 14, Iss 10, p e1006506 (2018)
Here we present an open-source R package 'meaRtools' that provides a platform for analyzing neuronal networks recorded on Microelectrode Arrays (MEAs). Cultured neuronal networks monitored with MEAs are now being widely used to characterize in vitro
Externí odkaz:
https://doaj.org/article/5b8630b3daec46ff9fb096ee125ae13c
Autor:
Ayal B Gussow, Brett R Copeland, Ryan S Dhindsa, Quanli Wang, Slavé Petrovski, William H Majoros, Andrew S Allen, David B Goldstein
Publikováno v:
PLoS ONE, Vol 13, Iss 1, p e0191298 (2018)
[This corrects the article DOI: 10.1371/journal.pone.0181604.].
Externí odkaz:
https://doaj.org/article/9d1275c9e7644ab1a1e3a760f7634868
Autor:
Xiaolin Zhu, Raghavendra Padmanabhan, Brett Copeland, Joshua Bridgers, Zhong Ren, Sitharthan Kamalakaran, Ailbhe O'Driscoll-Collins, Samuel F Berkovic, Ingrid E Scheffer, Annapurna Poduri, Davide Mei, Renzo Guerrini, Daniel H Lowenstein, Andrew S Allen, Erin L Heinzen, David B Goldstein
Publikováno v:
PLoS Genetics, Vol 13, Iss 11, p e1007104 (2017)
Trio exome sequencing has been successful in identifying genes with de novo mutations (DNMs) causing epileptic encephalopathy (EE) and other neurodevelopmental disorders. Here, we evaluate how well a case-control collapsing analysis recovers genes ca
Externí odkaz:
https://doaj.org/article/8e9360c193ab42e2a28283275adfbd6b
Autor:
Ayal B Gussow, Brett R Copeland, Ryan S Dhindsa, Quanli Wang, Slavé Petrovski, William H Majoros, Andrew S Allen, David B Goldstein
Publikováno v:
PLoS ONE, Vol 12, Iss 8, p e0181604 (2017)
There is broad agreement that genetic mutations occurring outside of the protein-coding regions play a key role in human disease. Despite this consensus, we are not yet capable of discerning which portions of non-coding sequence are important in the
Externí odkaz:
https://doaj.org/article/77957e0e6431494b96c88130183042b4
Autor:
Slavé Petrovski, Ayal B Gussow, Quanli Wang, Matt Halvorsen, Yujun Han, William H Weir, Andrew S Allen, David B Goldstein
Publikováno v:
PLoS Genetics, Vol 11, Iss 9, p e1005492 (2015)
Noncoding sequence contains pathogenic mutations. Yet, compared with mutations in protein-coding sequence, pathogenic regulatory mutations are notoriously difficult to recognize. Most fundamentally, we are not yet adept at recognizing the sequence st
Externí odkaz:
https://doaj.org/article/c933ee81e3c7494c9d53beec1855e639
Autor:
Paul J McLaren, Cédric Coulonges, Stephan Ripke, Leonard van den Berg, Susan Buchbinder, Mary Carrington, Andrea Cossarizza, Judith Dalmau, Steven G Deeks, Olivier Delaneau, Andrea De Luca, James J Goedert, David Haas, Joshua T Herbeck, Sekar Kathiresan, Gregory D Kirk, Olivier Lambotte, Ma Luo, Simon Mallal, Daniëlle van Manen, Javier Martinez-Picado, Laurence Meyer, José M Miro, James I Mullins, Niels Obel, Stephen J O'Brien, Florencia Pereyra, Francis A Plummer, Guido Poli, Ying Qi, Pierre Rucart, Manj S Sandhu, Patrick R Shea, Hanneke Schuitemaker, Ioannis Theodorou, Fredrik Vannberg, Jan Veldink, Bruce D Walker, Amy Weintrob, Cheryl A Winkler, Steven Wolinsky, Amalio Telenti, David B Goldstein, Paul I W de Bakker, Jean-François Zagury, Jacques Fellay
Publikováno v:
PLoS Pathogens, Vol 9, Iss 7, p e1003515 (2013)
Multiple genome-wide association studies (GWAS) have been performed in HIV-1 infected individuals, identifying common genetic influences on viral control and disease course. Similarly, common genetic correlates of acquisition of HIV-1 after exposure
Externí odkaz:
https://doaj.org/article/8b487ebc53ca4a4eae671f4a5970e634
Publikováno v:
PLoS Genetics, Vol 9, Iss 8, p e1003709 (2013)
A central challenge in interpreting personal genomes is determining which mutations most likely influence disease. Although progress has been made in scoring the functional impact of individual mutations, the characteristics of the genes in which tho
Externí odkaz:
https://doaj.org/article/1b5a13c87f1a41c5bc141de2d24b4102