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1.

Rare variant associations with plasma protein levels in the UK Biobank.

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.

Nature; 622(7982): 339-347, 2023 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-37794183

2.

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.

Nature; 597(7877): 527-532, 2021 09.

Artículo en Inglés | MEDLINE | ID: mdl-34375979

3.

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.

Am J Hum Genet; 110(10): 1661-1672, 2023 10 05.

Artículo en Inglés | MEDLINE | ID: mdl-37741276

4.

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

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.

Am J Hum Genet; 110(3): 487-498, 2023 03 02.

Artículo en Inglés | MEDLINE | ID: mdl-36809768

5.

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.

PLoS Genet; 19(10): e1010952, 2023 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-37782669

6.

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.

Am J Hum Genet; 109(12): 2105-2109, 2022 12 01.

Artículo en Inglés | MEDLINE | ID: mdl-36459978

7.

An expanded genomic database for identifying disease-related variants.

Dhindsa, Ryan S; Petrovski, Slavé.

Nature; 625(7993): 32-34, 2024 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-38057462

8.

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.

Proc Natl Acad Sci U S A; 118(51)2021 12 21.

Artículo en Inglés | MEDLINE | ID: mdl-34903660

9.

Natural Selection Shapes Codon Usage in the Human Genome.

Dhindsa, Ryan S; Copeland, Brett R; Mustoe, Anthony M; Goldstein, David B.

Am J Hum Genet; 107(1): 83-95, 2020 07 02.

Artículo en Inglés | MEDLINE | ID: mdl-32516569

10.

A Transcriptome-Based Drug Discovery Paradigm for Neurodevelopmental Disorders.

Dhindsa, Ryan S; Zoghbi, Anthony W; Krizay, Daniel K; Vasavda, Chirag; Goldstein, David B.

Ann Neurol; 89(2): 199-211, 2021 02.

Artículo en Inglés | MEDLINE | ID: mdl-33159466

11.

Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.

Koko, Mahmoud; Motelow, Joshua E; Stanley, Kate E; Bobbili, Dheeraj R; Dhindsa, Ryan S; May, Patrick.

Epilepsia; 63(3): 723-735, 2022 03.

Artículo en Inglés | MEDLINE | ID: mdl-35032048

12.

Natural Selection Shapes Codon Usage in the Human Genome.

Dhindsa, Ryan S; Copeland, Brett R; Mustoe, Anthony M; Goldstein, David B.

Am J Hum Genet; 109(8): 1559, 2022 Aug 04.

Artículo en Inglés | MEDLINE | ID: mdl-35931054

13.

Schizophrenia: From genetics to physiology at last.

Dhindsa, Ryan S; Goldstein, David B.

Nature; 530(7589): 162-3, 2016 Feb 11.

Artículo en Inglés | MEDLINE | ID: mdl-26814972

14.

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.

Genet Med; 17(10): 774-81, 2015 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-25590979

15.

Genetic Discoveries Drive Molecular Analyses and Targeted Therapeutic Options in the Epilepsies.

Dhindsa, Ryan S; Goldstein, David B.

Curr Neurol Neurosci Rep; 15(10): 70, 2015 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-26319171

16.

Phenome-wide identification of therapeutic genetic targets, leveraging knowledge graphs, graph neural networks, and UK Biobank data.

Middleton, Lawrence; Melas, Ioannis; Vasavda, Chirag; Raies, Arwa; Rozemberczki, Benedek; Dhindsa, Ryan S; Dhindsa, Justin S; Weido, Blake; Wang, Quanli; Harper, Andrew R; Edwards, Gavin; Petrovski, Slavé; Vitsios, Dimitrios.

Sci Adv; 10(19): eadj1424, 2024 May 10.

Artículo en Inglés | MEDLINE | ID: mdl-38718126

17.

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

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

Sci Adv; 9(26): eadg1671, 2023 06 30.

Artículo en Inglés | MEDLINE | ID: mdl-37390208

18.

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.

Front Cell Neurosci; 17: 1175895, 2023.

Artículo en Inglés | MEDLINE | ID: mdl-37275776

19.

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.

Commun Biol; 5(1): 1291, 2022 11 24.

Artículo en Inglés | MEDLINE | ID: mdl-36434048

20.

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

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

Sci Adv; 8(34): eabo6371, 2022 08 26.

Artículo en Inglés | MEDLINE | ID: mdl-36026442

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Rare variant associations with plasma protein levels in the UK Biobank.

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

Literature-based predictions of Mendelian disease therapies.

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

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

A minimal role for synonymous variation in human disease.

An expanded genomic database for identifying disease-related variants.

High-impact rare genetic variants in severe schizophrenia.

Natural Selection Shapes Codon Usage in the Human Genome.

A Transcriptome-Based Drug Discovery Paradigm for Neurodevelopmental Disorders.

Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.

Natural Selection Shapes Codon Usage in the Human Genome.

Schizophrenia: From genetics to physiology at last.

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

Genetic Discoveries Drive Molecular Analyses and Targeted Therapeutic Options in the Epilepsies.

Phenome-wide identification of therapeutic genetic targets, leveraging knowledge graphs, graph neural networks, and UK Biobank data.

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

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

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

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