DNA-methylation effect on cotranscriptional splicing is dependent on GC architecture of the exon–intron structure

por Gelfman, Sahar, Cohen, Noa, Yearim, Ahuvi, Ast, Gil
Publicado 2013

Enhancer methylation dynamics contribute to cancer plasticity and patient mortality

por Bell, Rachel E., Golan, Tamar, Sheinboim, Danna, Malcov, Hagar, Amar, David, Salamon, Avi, Liron, Tamar, Gelfman, Sahar, Gabet, Yankel, Shamir, Ron, Levy, Carmit
Publicado 2016

Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82

por Erjavec, Stephanie O., Gelfman, Sahar, Abdelaziz, Alexa R., Lee, Eunice Y., Monga, Isha, Alkelai, Anna, Ionita-Laza, Iuliana, Petukhova, Lynn, Christiano, Angela M.
Publicado 2022

Inhibition of microRNA 128 promotes excitability of cultured cortical neuronal networks

por McSweeney, K. Melodi, Gussow, Ayal B., Bradrick, Shelton S., Dugger, Sarah A., Gelfman, Sahar, Wang, Quanli, Petrovski, Slavé, Frankel, Wayne N., Boland, Michael J., Goldstein, David B.
Publicado 2016

Annotating pathogenic non-coding variants in genic regions

por Gelfman, Sahar, Wang, Quanli, McSweeney, K. Melodi, Ren, Zhong, La Carpia, Francesca, Halvorsen, Matt, Schoch, Kelly, Ratzon, Fanni, Heinzen, Erin L., Boland, Michael J., Petrovski, Slavé, Goldstein, David B.
Publicado 2017

Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor

por Colombo, Sophie, Reddy, Haritha P., Petri, Sabrina, Williams, Damian J., Shalomov, Boris, Dhindsa, Ryan S., Gelfman, Sahar, Krizay, Daniel, Bera, Amal K., Yang, Mu, Peng, Yueqing, Makinson, Christopher D., Boland, Michael J., Frankel, Wayne N., Goldstein, David B., Dascal, Nathan
Publicado 2023

meaRtools: An R package for the analysis of neuronal networks recorded on microelectrode arrays

por Gelfman, Sahar, Wang, Quanli, Lu, Yi-Fan, Hall, Diana, Bostick, Christopher D., Dhindsa, Ryan, Halvorsen, Matt, McSweeney, K. Melodi, Cotterill, Ellese, Edinburgh, Tom, Beaumont, Michael A., Frankel, Wayne N., Petrovski, Slavé, Allen, Andrew S., Boland, Michael J., Goldstein, David B., Eglen, Stephen J.
Publicado 2018

ERAP1, ERAP2, and Two Copies of HLA-Aw19 Alleles Increase the Risk for Birdshot Chorioretinopathy in HLA-A29 Carriers

por Gelfman, Sahar, Monnet, Dominique, Ligocki, Ann J., Tabary, Thierry, Moscati, Arden, Bai, Xiaodong, Freudenberg, Jan, Cooper, Blerta, Kosmicki, Jack A., Wolf, Sarah, Ferreira, Manuel A. R., Overton, John, Weyne, Jonathan, Stahl, Eli A., Baras, Aris, Romano, Carmelo, Cohen, Jacques H. M., Coppola, Giovanni, Brézin, Antoine
Publicado 2021

A large meta-analysis identifies genes associated with anterior uveitis

por Gelfman, Sahar, Moscati, Arden, Huergo, Santiago Mendez, Wang, Rujin, Rajagopal, Veera, Parikshak, Neelroop, Pounraja, Vijay Kumar, Chen, Esteban, Leblanc, Michelle, Hazlewood, Ralph, Freudenberg, Jan, Cooper, Blerta, Ligocki, Ann J., Miller, Charles G., Van Zyl, Tavé, Weyne, Jonathan, Romano, Carmelo, Sagdullaev, Botir, Melander, Olle, Baras, Aris, Stahl, Eli A., Coppola, Giovanni
Publicado 2023

A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS

por Gelfman, Sahar, Dugger, Sarah, de Araujo Martins Moreno, Cristiane, Ren, Zhong, Wolock, Charles J., Shneider, Neil A., Phatnani, Hemali, Cirulli, Elizabeth T., Lasseigne, Brittany N., Harris, Tim, Maniatis, Tom, Rouleau, Guy A., Brown, Robert H., Gitler, Aaron D., Myers, Richard M., Petrovski, Slavé, Allen, Andrew, Goldstein, David B., Harms, Matthew B.
Publicado 2019

Rare coding variants in CHRNB2 reduce the likelihood of smoking

por Rajagopal, Veera M., Watanabe, Kyoko, Mbatchou, Joelle, Ayer, Ariane, Quon, Peter, Sharma, Deepika, Kessler, Michael D., Praveen, Kavita, Gelfman, Sahar, Parikshak, Neelroop, Otto, Jacqueline M., Bao, Suying, Chim, Shek Man, Pavlopoulos, Elias, Avbersek, Andreja, Kapoor, Manav, Chen, Esteban, Jones, Marcus B., Leblanc, Michelle, Emberson, Jonathan, Collins, Rory, Torres, Jason, Morales, Pablo Kuri, Tapia-Conyer, Roberto, Alegre, Jesus, Berumen, Jaime, Shuldiner, Alan R., Balasubramanian, Suganthi, Abecasis, Gonçalo R., Kang, Hyun M., Marchini, Jonathan, Stahl, Eli A., Jorgenson, Eric, Sanchez, Robert, Liedtke, Wolfgang, Anderson, Matthew, Cantor, Michael, Lederer, David, Baras, Aris, Coppola, Giovanni
Publicado 2023

A deep catalog of protein-coding variation in 985,830 individuals

por Sun, Kathie Y., Bai, Xiaodong, Chen, Siying, Bao, Suying, Kapoor, Manav, Zhang, Chuanyi, Backman, Joshua, Joseph, Tyler, Maxwell, Evan, Mitra, George, Gorovits, Alexander, Mansfield, Adam, Boutkov, Boris, Gokhale, Sujit, Habegger, Lukas, Marcketta, Anthony, Locke, Adam, Kessler, Michael D., Sharma, Deepika, Staples, Jeffrey, Bovijn, Jonas, Gelfman, Sahar, Gioia, Alessandro Di, Rajagopal, Veera, Lopez, Alexander, Varela, Jennifer Rico, Alegre, Jesus, Berumen, Jaime, Tapia-Conyer, Roberto, Kuri-Morales, Pablo, Torres, Jason, Emberson, Jonathan, Collins, Rory, Cantor, Michael, Thornton, Timothy, Kang, Hyun Min, Overton, John, Shuldiner, Alan R., Cremona, M. Laura, Nafde, Mona, Baras, Aris, Abecasis, Goncalo, Marchini, Jonathan, Reid, Jeffrey G., Salerno, William, Balasubramanian, Suganthi
Publicado 2023