Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning

por Vitsios, Dimitrios, Dhindsa, Ryan S., Middleton, Lawrence, Gussow, Ayal B., Petrovski, Slavé
Publicado 2021

Atoh1 drives the heterogeneity of the pontine nuclei neurons and promotes their differentiation

por Wu, Sih-Rong, Butts, Jessica C., Caudill, Matthew S., Revelli, Jean-Pierre, Dhindsa, Ryan S., Durham, Mark A., Zoghbi, Huda Y.
Publicado 2023

Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics

por Gussow, Ayal B., Copeland, Brett R., Dhindsa, Ryan S., Wang, Quanli, Petrovski, Slavé, Majoros, William H., Allen, Andrew S., Goldstein, David B.
Publicado 2017

Correction: Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics

por Gussow, Ayal B., Copeland, Brett R., Dhindsa, Ryan S., Wang, Quanli, Petrovski, Slavé, Majoros, William H., Allen, Andrew S., Goldstein, David B.
Publicado 2018

Author Correction: DrugnomeAI is an ensemble machine-learning framework for predicting druggability of candidate drug targets

por Raies, Arwa, Tulodziecka, Ewa, Stainer, James, Middleton, Lawrence, Dhindsa, Ryan S., Hill, Pamela, Engkvist, Ola, Harper, Andrew R., Petrovski, Slavé, Vitsios, Dimitrios
Publicado 2023

DrugnomeAI is an ensemble machine-learning framework for predicting druggability of candidate drug targets

por Raies, Arwa, Tulodziecka, Ewa, Stainer, James, Middleton, Lawrence, Dhindsa, Ryan S., Hill, Pamela, Engkvist, Ola, Harper, Andrew R., Petrovski, Slavé, Vitsios, Dimitrios
Publicado 2022

Cancer-driving mutations are enriched in genic regions intolerant to germline variation

por Vitsios, Dimitrios, Dhindsa, Ryan S., Matelska, Dorota, Mitchell, Jonathan, Zou, Xuequing, Armenia, Joshua, Hu, Fengyuan, Wang, Quanli, Sidders, Ben, Harper, Andrew R., Petrovski, Slavé
Publicado 2022

Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis

por Dhindsa, Ryan S., Bradrick, Shelton S., Yao, Xiaodi, Heinzen, Erin L., Petrovski, Slave, Krueger, Brian J., Johnson, Michael R., Frankel, Wayne N., Petrou, Steven, Boumil, Rebecca M., Goldstein, David B.
Publicado 2015

Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank

por Nag, Abhishek, Dhindsa, Ryan S., Middleton, Lawrence, Jiang, Xiao, Vitsios, Dimitrios, Wigmore, Eleanor, Allman, Erik L., Reznichenko, Anna, Carss, Keren, Smith, Katherine R., Wang, Quanli, Challis, Benjamin, Paul, Dirk S., Harper, Andrew R., Petrovski, Slavé
Publicado 2023

Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition

por Petrovski, Slavé, Shashi, Vandana, Petrou, Steven, Schoch, Kelly, McSweeney, Keisha Melodi, Dhindsa, Ryan S., Krueger, Brian, Crimian, Rebecca, Case, Laura E., Khalid, Roha, El-Dairi, Maysantoine A., Jiang, Yong-Hui, Mikati, Mohamad A., Goldstein, David B.
Publicado 2015

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

Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency

por Dugger, Sarah A., Dhindsa, Ryan S., Sampaio, Gabriela De Almeida, Ressler, Andrew K., Rafikian, Elizabeth E., Petri, Sabrina, Letts, Verity A., Teoh, JiaJie, Ye, Junqiang, Colombo, Sophie, Peng, Yueqing, Yang, Mu, Boland, Michael J., Frankel, Wayne N., Goldstein, David B.
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

Rare variant contribution to human disease in 281,104 UK Biobank exomes

por 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
Publicado 2021

Identification of the NRF2 transcriptional network as a therapeutic target for trigeminal neuropathic pain

por Vasavda, Chirag, Xu, Risheng, Liew, Jason, Kothari, Ruchita, Dhindsa, Ryan S., Semenza, Evan R., Paul, Bindu D., Green, Dustin P., Sabbagh, Mark F., Shin, Joseph Y., Yang, Wuyang, Snowman, Adele M., Albacarys, Lauren K., Moghekar, Abhay, Pardo-Villamizar, Carlos A., Luciano, Mark, Huang, Judy, Bettegowda, Chetan, Kwatra, Shawn G., Dong, Xinzhong, Lim, Michael, Snyder, Solomon H.
Publicado 2022

Rare variant associations with plasma protein levels in the UK Biobank

por 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
Publicado 2023

Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

por Dhindsa, Ryan S., Mattsson, Johan, Nag, Abhishek, Wang, Quanli, Wain, Louise V., Allen, Richard, Wigmore, Eleanor M., Ibanez, Kristina, Vitsios, Dimitrios, Deevi, Sri V. V., Wasilewski, Sebastian, Karlsson, Maria, Lassi, Glenda, Olsson, Henric, Muthas, Daniel, Monkley, Susan, Mackay, Alex, Murray, Lynne, Young, Simon, Haefliger, Carolina, Maher, Toby M., Belvisi, Maria G., Jenkins, Gisli, Molyneaux, Philip L., Platt, Adam, Petrovski, Slavé
Publicado 2021

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

por Zhu, Xiaolin, Petrovski, Slavé, Xie, Pingxing, Ruzzo, Elizabeth K., Lu, Yi-Fan, McSweeney, K. Melodi, Ben-Zeev, Bruria, Nissenkorn, Andreea, Anikster, Yair, Oz-Levi, Danit, Dhindsa, Ryan S., Hitomi, Yuki, Schoch, Kelly, Spillmann, Rebecca C., Heimer, Gali, Marek-Yagel, Dina, Tzadok, Michal, Han, Yujun, Worley, Gordon, Goldstein, Jennifer, Jiang, Yong-Hui, Lancet, Doron, Pras, Elon, Shashi, Vandana, McHale, Duncan, Need, Anna C., Goldstein, David B.
Publicado 2015

Human genetics uncovers MAP3K15 as an obesity-independent therapeutic target for diabetes

por Nag, Abhishek, Dhindsa, Ryan S., Mitchell, Jonathan, Vasavda, Chirag, Harper, Andrew R., Vitsios, Dimitrios, Ahnmark, Andrea, Bilican, Bilada, Madeyski-Bengtson, Katja, Zarrouki, Bader, Zoghbi, Anthony W., Wang, Quanli, Smith, Katherine R., Alegre-Díaz, Jesus, Kuri-Morales, Pablo, Berumen, Jaime, Tapia-Conyer, Roberto, Emberson, Jonathan, Torres, Jason M., Collins, Rory, Smith, David M., Challis, Benjamin, Paul, Dirk S., Bohlooly-Y, Mohammad, Snowden, Mike, Baker, David, Fritsche-Danielson, Regina, Pangalos, Menelas N., Petrovski, Slavé
Publicado 2022