High-impact rare genetic variants in severe schizophrenia
Zoghbi, Anthony W., Dhindsa, Ryan S., Goldberg, Terry E., Mehralizade, Aydan, Motelow, Joshua E., Wang, Xinchen, Alkelai, Anna, Harms, Matthew B., Lieberman, Jeffrey A., Markx, Sander, Goldstein, David B.
Published in Proceedings of the National Academy of Sciences - PNAS (21.12.2021)
Published in Proceedings of the National Academy of Sciences - PNAS (21.12.2021)
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Journal Article
A Transcriptome‐Based Drug Discovery Paradigm for Neurodevelopmental Disorders
Dhindsa, Ryan S., Zoghbi, Anthony W., Krizay, Daniel K., Vasavda, Chirag, Goldstein, David B.
Published in Annals of neurology (01.02.2021)
Published in Annals of neurology (01.02.2021)
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Journal Article
Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency
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
Published in PLoS genetics (02.10.2023)
Published in PLoS genetics (02.10.2023)
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Journal Article
Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics
Gussow, Ayal B, Copeland, Brett R, Dhindsa, Ryan S, Wang, Quanli, Petrovski, Slavé, Majoros, William H, Allen, Andrew S, Goldstein, David B
Published in PloS one (10.08.2017)
Published in PloS one (10.08.2017)
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Journal Article
Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor
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
Published in Frontiers in cellular neuroscience (18.05.2023)
Published in Frontiers in cellular neuroscience (18.05.2023)
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Journal Article
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis
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
Published in Communications biology (23.03.2021)
Published in Communications biology (23.03.2021)
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Journal Article
DrugnomeAI is an ensemble machine-learning framework for predicting druggability of candidate drug targets
Raies, Arwa, Tulodziecka, Ewa, Stainer, James, Middleton, Lawrence, Dhindsa, Ryan S., Hill, Pamela, Engkvist, Ola, Harper, Andrew R., Petrovski, Slavé, Vitsios, Dimitrios
Published in Communications biology (24.11.2022)
Published in Communications biology (24.11.2022)
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Journal Article
Author Correction: DrugnomeAI is an ensemble machine-learning framework for predicting druggability of candidate drug targets
Raies, Arwa, Tulodziecka, Ewa, Stainer, James, Middleton, Lawrence, Dhindsa, Ryan S., Hill, Pamela, Engkvist, Ola, Harper, Andrew R., Petrovski, Slavé, Vitsios, Dimitrios
Published in Communications biology (11.07.2023)
Published in Communications biology (11.07.2023)
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Journal Article
Correction: Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics
Gussow, Ayal B, Copeland, Brett R, Dhindsa, Ryan S, Wang, Quanli, Petrovski, Slavé, Majoros, William H, Allen, Andrew S, Goldstein, David B
Published in PloS one (11.01.2018)
Published in PloS one (11.01.2018)
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Journal Article
Natural Selection Shapes Codon Usage in the Human Genome
Dhindsa, Ryan S., Copeland, Brett R., Mustoe, Anthony M., Goldstein, David B.
Published in American journal of human genetics (02.07.2020)
Published in American journal of human genetics (02.07.2020)
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Journal Article
Rare variant contribution to human disease in 281,104 UK Biobank exomes
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
Published in Nature (London) (23.09.2021)
Published in Nature (London) (23.09.2021)
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Journal Article
Studying ultra-rare variants in STX1A uncovers a novel neurodevelopmental disorder
Villavicencio Gonzalez, Esmeralda, Dhindsa, Ryan S
Published in European journal of human genetics : EJHG (01.09.2023)
Published in European journal of human genetics : EJHG (01.09.2023)
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Journal Article
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
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.
Published in Genetics in medicine (01.10.2015)
Published in Genetics in medicine (01.10.2015)
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Journal Article
Natural Selection Shapes Codon Usage in the Human Genome
Dhindsa, Ryan S., Copeland, Brett R., Mustoe, Anthony M., Goldstein, David B.
Published in American journal of human genetics (04.08.2022)
Published in American journal of human genetics (04.08.2022)
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Journal Article
Literature-based predictions of Mendelian disease therapies
Deisseroth, Cole A., Lee, Won-Seok, Kim, Jiyoen, Jeong, Hyun-Hwan, Dhindsa, Ryan S., Wang, Julia, Zoghbi, Huda Y., Liu, Zhandong
Published in American journal of human genetics (05.10.2023)
Published in American journal of human genetics (05.10.2023)
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Journal Article
A minimal role for synonymous variation in human disease
Dhindsa, Ryan S., Wang, Quanli, Vitsios, Dimitrios, Burren, Oliver S., Hu, Fengyuan, DiCarlo, James E., Kruglyak, Leonid, MacArthur, Daniel G., Hurles, Matthew E., Petrovski, Slavé
Published in American journal of human genetics (01.12.2022)
Published in American journal of human genetics (01.12.2022)
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Journal Article
Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank
Garg, Manik, Karpinski, Marcin, Matelska, Dorota, Middleton, Lawrence, Burren, Oliver S., Hu, Fengyuan, Wheeler, Eleanor, Smith, Katherine R., Fabre, Margarete A., Mitchell, Jonathan, O’Neill, Amanda, Ashley, Euan A., Harper, Andrew R., Wang, Quanli, Dhindsa, Ryan S., Petrovski, Slavé, Vitsios, Dimitrios
Published in Nature genetics (01.09.2024)
Published in Nature genetics (01.09.2024)
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Journal Article