518 entries « 2 of 11 »

2023

Benson, Mark D | Eisman, Aaron S | Tahir, Usman A | Katz, Daniel H | Deng, Shuliang | Ngo, Debby | Robbins, Jeremy M | Hofmann, Alissa | Shi, Xu | Zheng, Shuning | Keyes, Michelle | Yu, Zhi | Gao, Yan | Farrell, Laurie | Shen, Dongxiao | Chen, Zsu-Zsu | Cruz, Daniel E | Sims, Mario | Correa, Adolfo | Tracy, Russell P | Durda, Peter | Taylor, Kent D | Liu, Yongmei | Johnson, W Craig | Guo, Xiuqing | Yao, Jie | Chen, Yii-Der Ida | Manichaikul, Ani W | Jain, Deepti | Yang, Qiong | | Bouchard, Claude | Sarzynski, Mark A | Rich, Stephen S | Rotter, Jerome I | Wang, Thomas J | Wilson, James G | Clish, Clary B | Sarkar, Indra Neil | Natarajan, Pradeep | Gerszten, Robert E

Protein-metabolite association studies identify novel proteomic determinants of metabolite levels in human plasma Journal Article

In: Cell Metab, vol. 35, no. 9, pp. 1646–1660.e3, 2023, ISSN: 1932-7420.

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Szczerbinski, Lukasz | Mandla, Ravi | Schroeder, Philip | Porneala, Bianca C | Li, Josephine H | Florez, Jose C | Mercader, Josep M | Manning, Alisa K | Udler, Miriam S

Algorithms for the identification of prevalent diabetes in the All of Us Research Program validated using polygenic scores - a new resource for diabetes precision medicine Miscellaneous

2023.

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Shellock, Frank G | Rosen, Matthew S | Webb, Andrew | Kimberly, W Taylor | Rajan, Sunder | Nacev, Aleksandar N | Crues, John V

Managing Patients With Unlabeled Passive Implants on MR Systems Operating Below 1.5 T Journal Article

In: J Magn Reson Imaging, 2023, ISSN: 1522-2586.

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van Essen, Thomas A | van Erp, Inge A M | Lingsma, Hester F | Pisică, Dana | Yue, John K | Singh, Ranjit D | van Dijck, Jeroen T J M | Volovici, Victor | Younsi, Alexander | Kolias, Angelos | Peppel, Lianne D | Heijenbrok-Kal, Majanka | Ribbers, Gerard M | Menon, David K | Hutchinson, Peter J A | Manley, Geoffrey T | Depreitere, Bart | Steyerberg, Ewout W | Maas, Andrew I R | de Ruiter, Godard C W | and, Wilco C Peul

Comparative effectiveness of decompressive craniectomy versus craniotomy for traumatic acute subdural hematoma (CENTER-TBI): an observational cohort study Journal Article

In: EClinicalMedicine, vol. 63, pp. 102161, 2023, ISSN: 2589-5370.

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Nowbandegani, Pouria Salehi | Wohns, Anthony Wilder | Ballard, Jenna L | Lander, Eric S | Bloemendal, Alex | Neale, Benjamin M | O'Connor, Luke J

Extremely sparse models of linkage disequilibrium in ancestrally diverse association studies Journal Article

In: Nat Genet, vol. 55, no. 9, pp. 1494–1502, 2023, ISSN: 1546-1718.

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Kitano, Rie | Madan, Neel | Mikami, Takahisa | Madankumar, Rajeevi | Skotko, Brian G | Santoro, Stephanie | Ralston, Steven J | Bianchi, Diana W | Tarui, Tomo

Biometric magnetic resonance imaging analysis of fetal brain development in down syndrome Journal Article

In: Prenat Diagn, 2023, ISSN: 1097-0223.

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Kathiresan, Nina | Cho, So Mi Jemma | Bhattacharya, Romit | Truong, Buu | Hornsby, Whitney | Natarajan, Pradeep

Representation of Race and Ethnicity in the Contemporary US Health Cohort All of Us Research Program Journal Article

In: JAMA Cardiol, vol. 8, no. 9, pp. 859–864, 2023, ISSN: 2380-6591.

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Cho, So Mi Jemma | Koyama, Satoshi | Honigberg, Michael C | Surakka, Ida | Haidermota, Sara | Ganesh, Shriienidhie | Patel, Aniruddh P | Bhattacharya, Romit | Lee, Hokyou | Kim, Hyeon Chang | Natarajan, Pradeep

Genetic, sociodemographic, lifestyle, and clinical risk factors of recurrent coronary artery disease events: a population-based cohort study Journal Article

In: Eur Heart J, vol. 44, no. 36, pp. 3456–3465, 2023, ISSN: 1522-9645.

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Babadi, Mehrtash | Fu, Jack M | Lee, Samuel K | Smirnov, Andrey N | Gauthier, Laura D | Walker, Mark | Benjamin, David I | Zhao, Xuefang | Karczewski, Konrad J | Wong, Isaac | Collins, Ryan L | Sanchis-Juan, Alba | Brand, Harrison | Banks, Eric | Talkowski, Michael E

GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data Journal Article

In: Nat Genet, vol. 55, no. 9, pp. 1589–1597, 2023, ISSN: 1546-1718.

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Williams, Camille M | Peyre, Hugo | Wolfram, Tobias | Lee, Younga H | Ge, Tian | Smoller, Jordan W | Mallard, Travis T | Ramus, Franck

Characterizing the phenotypic and genetic structure of psychopathology in UK Biobank Miscellaneous

2023.

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Gao, Han | Liu, Ruize | Huang, Hailiang | Liu, Zhanju

Susceptibility gene profiling elucidates the pathogenesis of inflammatory bowel disease and provides precision medicine Journal Article

In: Clin Transl Med, vol. 13, no. 9, pp. e1404, 2023, ISSN: 2001-1326.

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Bruffaerts, Ronny | Axinn, William G | Ghimire, Dirgha J | Benjet, Corina | Chardoul, Stephanie | Scott, Kate M | Kessler, Ronald C | Schulz, Paul | Smoller, Jordan W

Community exposure to armed conflict and subsequent onset of alcohol use disorder Journal Article

In: Addiction, 2023, ISSN: 1360-0443.

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Uddin, Md Mesbah | Saadatagah, Seyedmohammad | Niroula, Abhishek | Yu, Bing | Hornsby, Whitney | Ganesh, Shriienidhie | Lannery, Kim | Shuermans, Art | Honigberg, Michael C | Bick, Alexander G | Libby, Peter | Ebert, Benjamin L | Ballantyne, Christie M | Natarajan, Pradeep

Long-term longitudinal analysis of 4,187 participants reveals new insights into determinants of incident clonal hematopoiesis Miscellaneous

2023.

Abstract | Links | BibTeX | Tags:

Lagou, Vasiliki | Jiang, Longda | Ulrich, Anna | Zudina, Liudmila | González, Karla Sofia Gutiérrez | Balkhiyarova, Zhanna | Faggian, Alessia | Maina, Jared G | Chen, Shiqian | Todorov, Petar V | Sharapov, Sodbo | David, Alessia | Marullo, Letizia | Mägi, Reedik | Rujan, Roxana-Maria | Ahlqvist, Emma | Thorleifsson, Gudmar | Gao, Ηe | Εvangelou, Εvangelos | Benyamin, Beben | Scott, Robert A | Isaacs, Aaron | Zhao, Jing Hua | Willems, Sara M | Johnson, Toby | Gieger, Christian | Grallert, Harald | Meisinger, Christa | Müller-Nurasyid, Martina | Strawbridge, Rona J | Goel, Anuj | Rybin, Denis | Albrecht, Eva | Jackson, Anne U | Stringham, Heather M | Corrêa, Ivan R | Farber-Eger, Eric | Steinthorsdottir, Valgerdur | Uitterlinden, André G | Munroe, Patricia B | Brown, Morris J | Schmidberger, Julian | Holmen, Oddgeir | Thorand, Barbara | Hveem, Kristian | Wilsgaard, Tom | Mohlke, Karen L | Wang, Zhe | | Shmeliov, Aleksey | den Hoed, Marcel | Loos, Ruth J F | Kratzer, Wolfgang | Haenle, Mark | Koenig, Wolfgang | Boehm, Bernhard O | Tan, Tricia M | Tomas, Alejandra | Salem, Victoria | Barroso, Inês | Tuomilehto, Jaakko | Boehnke, Michael | Florez, Jose C | Hamsten, Anders | Watkins, Hugh | Njølstad, Inger | Wichmann, H-Erich | Caulfield, Mark J | Khaw, Kay-Tee | van Duijn, Cornelia M | Hofman, Albert | Wareham, Nicholas J | Langenberg, Claudia | Whitfield, John B | Martin, Nicholas G | Montgomery, Grant | Scapoli, Chiara | Tzoulaki, Ioanna | Elliott, Paul | Thorsteinsdottir, Unnur | Stefansson, Kari | Brittain, Evan L | McCarthy, Mark I | Froguel, Philippe | Sexton, Patrick M | Wootten, Denise | Groop, Leif | Dupuis, Josée | Meigs, James B | Deganutti, Giuseppe | Demirkan, Ayse | Pers, Tune H | Reynolds, Christopher A | Aulchenko, Yurii S | Kaakinen, Marika A | Jones, Ben | and, Inga Prokopenko

GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification Journal Article

In: Nat Genet, vol. 55, no. 9, pp. 1448–1461, 2023, ISSN: 1546-1718.

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Kipkemoi, Patricia | Kim, Heesu Ally | Christ, Bjorn | O'Heir, Emily | Allen, Jake | Austin-Tse, Christina | Baxter, Samantha | Brand, Harrison | Bryant, Sam | Buser, Nick | de Menil, Victoria | Eastman, Emma | Murugasen, Serini | Galvin, Alice | Kombe, Martha | Ngombo, Alfred | Mkubwa, Beatrice | Mwangi, Paul | Kipkoech, Collins | Lovgren, Alysia | MacArthur, Daniel G | Melly, Brigitte | Mwangasha, Katini | Martin, Alicia | Nkambule, Lethukuthula L | Sanchis-Juan, Alba | Singer-Berk, Moriel | Talkowski, Michael E | VanNoy, Grace | van der Merwe, Celia | | Newton, Charles | O'Donnell-Luria, Anne | Abubakar, Amina | Donald, Kirsten A | Robinson, Elise B

Phenotype and genetic analysis of data collected within the first year of NeuroDev Journal Article

In: Neuron, vol. 111, no. 18, pp. 2800–2810.e5, 2023, ISSN: 1097-4199.

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Scammell, B H | Tchio, C | Song, Y | Nishiyama, T | Louie, T L | Dashti, H S | Nakatochi, M | Zee, P C | Daghlas, I | Momozawa, Y | Cai, J | Ollila, H M | Redline, S | Wakai, K | Sofer, T | Suzuki, S | Lane, J M | Saxena, R

Multi-ancestry genome-wide analysis identifies shared genetic effects and common genetic variants for self-reported sleep duration Journal Article

In: Hum Mol Genet, vol. 32, no. 18, pp. 2797–2807, 2023, ISSN: 1460-2083.

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Kerimov, Nurlan | Tambets, Ralf | Hayhurst, James D | Rahu, Ida | Kolberg, Peep | Raudvere, Uku | Kuzmin, Ivan | Chowdhary, Anshika | Vija, Andreas | Teras, Hans J | Kanai, Masahiro | Ulirsch, Jacob | Ryten, Mina | Hardy, John | Guelfi, Sebastian | Trabzuni, Daniah | Kim-Hellmuth, Sarah | Rayner, William | Finucane, Hilary | Peterson, Hedi | Mosaku, Abayomi | Parkinson, Helen | Alasoo, Kaur

eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLs Journal Article

In: PLoS Genet, vol. 19, no. 9, pp. e1010932, 2023, ISSN: 1553-7404.

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Harisinghani, Ayesha | Dhand, Amar | Steffensen, Ellen Hollands | Skotko, Brian G

Sustainability of personal social networks of people with Down syndrome Journal Article

In: Am J Med Genet C Semin Med Genet, pp. e32064, 2023, ISSN: 1552-4876.

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Recto, Kathryn | Kachroo, Priyadarshini | Huan, Tianxiao | Berg, David Van Den | Lee, Gha Young | Bui, Helena | Lee, Dong Heon | Gereige, Jessica | Yao, Chen | Hwang, Shih-Jen | Joehanes, Roby | Weiss, Scott T | | O'Connor, George T | Levy, Daniel | DeMeo, Dawn L

Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma Journal Article

In: EBioMedicine, vol. 95, pp. 104758, 2023, ISSN: 2352-3964.

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Kim, Min Seo | Song, Minku | Kim, Beomsu | Shim, Injeong | Kim, Dan Say | Natarajan, Pradeep | Do, Ron | Won, Hong-Hee

Prioritization of therapeutic targets for dyslipidemia using integrative multi-omics and multi-trait analysis Journal Article

In: Cell Rep Med, vol. 4, no. 9, pp. 101112, 2023, ISSN: 2666-3791.

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Lawson, Jonathan | Ghanaim, Elena M | Baek, Jinyoung | Lee, Harin | Rehm, Heidi L

Aligning NIH's existing data use restrictions to the GA4GH DUO standard Journal Article

In: Cell Genom, vol. 3, no. 9, pp. 100381, 2023, ISSN: 2666-979X.

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Joshi, Pallavi R | Sadre, Shayan | Guo, Xiaoyan A | McCoy, Jason G | Mootha, Vamsi K

Lipoylation is dependent on the ferredoxin FDX1 and dispensable under hypoxia in human cells Journal Article

In: J Biol Chem, vol. 299, no. 9, pp. 105075, 2023, ISSN: 1083-351X.

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Alghamdi, Malak Ali | O'Donnell-Luria, Anne | Almontashiri, Naif A | AlAali, Wajeih Y | Ali, Hebatallah H | Levy, Harvey L

Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman Miscellaneous

2023, ISSN: 2192-8304.

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Vuori, Matti A | Kiiskinen, Tuomo | Pitkänen, Niina | Kurki, Samu | Laivuori, Hannele | Laitinen, Tarja | Mäntylahti, Sampo | Palotie, Aarno | FinnGen, | Niiranen, Teemu J

Use of electronic health record data mining for heart failure subtyping Journal Article

In: BMC Res Notes, vol. 16, no. 1, pp. 208, 2023, ISSN: 1756-0500.

Abstract | Links | BibTeX | Tags:

Yu, Zhi | Fidler, Trevor P | Ruan, Yunfeng | Vlasschaert, Caitlyn | Nakao, Tetsushi | Uddin, Md Mesbah | Mack, Taralynn | Niroula, Abhishek | Heimlich, J Brett | Zekavat, Seyedeh M | Gibson, Christopher J | Griffin, Gabriel K | Wang, Yuxuan | Peloso, Gina M | Heard-Costa, Nancy | Levy, Daniel | Vasan, Ramachandran S | Aguet, François | Ardlie, Kristin G | Taylor, Kent D | Rich, Stephen S | Rotter, Jerome I | Libby, Peter | Jaiswal, Siddhartha | Ebert, Benjamin L | Bick, Alexander G | Tall, Alan R | Natarajan, Pradeep

Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk Journal Article

In: J Clin Invest, vol. 133, no. 18, 2023, ISSN: 1558-8238.

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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture Journal Article

In: Nat Genet, vol. 55, no. 9, pp. 1471–1482, 2023, ISSN: 1546-1718.

Abstract | Links | BibTeX | Tags:

Shashi, Vandana | Schoch, Kelly | Ganetzky, Rebecca | Kranz, Peter G | Sondheimer, Neal | Markert, M Louise | Cope, Heidi | Sadeghpour, Azita | Roehrs, Philip | Arbogast, Thomas | Muraresku, Colleen | | Tyndall, Amanda V | Esser, Michael J | Woodward, Kristine E | Au, Billie Ping-Yee | Parboosingh, Jillian S | Lamont, Ryan E | Bernier, Francois P | Wright, Nicola A M | Benseler, Susa M | Parsons, Simon J | El-Dairi, Mays | Smith, Edward C | Valdez, Purnima | Tennison, Michael | Innes, A Micheil | Davis, Erica E

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy Journal Article

In: Genet Med, vol. 25, no. 9, pp. 100897, 2023, ISSN: 1530-0366.

Abstract | Links | BibTeX | Tags:

Toikumo, Sylvanus | Jennings, Mariela V | Pham, Benjamin K | Lee, Hyunjoon | Mallard, Travis T | Bianchi, Sevim B | Meredith, John J | Vilar-Ribó, Laura | Xu, Heng | Hatoum, Alexander S | Johnson, Emma C | Pazdernik, Vanessa | Jinwala, Zeal | Pakala, Shreya R | Leger, Brittany S | Niarchou, Maria | Ehinmowo, Michael | | | Jenkins, Greg D | Batzler, Anthony | Pendegraft, Richard | Palmer, Abraham A | Zhou, Hang | Biernacka, Joanna M | Coombes, Brandon J | Gelernter, Joel | Xu, Ke | Hancock, Dana B | Nancy, Cox J | Smoller, Jordan W | Davis, Lea K | Justice, Amy C | Kranzler, Henry R | Kember, Rachel L | Sanchez-Roige, Sandra

Multi-ancestry meta-analysis of tobacco use disorder prioritizes novel candidate risk genes and reveals associations with numerous health outcomes Miscellaneous

2023.

Abstract | Links | BibTeX | Tags:

Weinhofer, Isabelle | Rommer, Paulus | Gleiss, Andreas | Ponleitner, Markus | Zierfuss, Bettina | Waidhofer-Söllner, Petra | Fourcade, Stéphane | Grabmeier-Pfistershammer, Katharina | Reinert, Marie-Christine | Göpfert, Jens | Heine, Anne | Yska, Hemmo A F | Casasnovas, Carlos | Cantarín, Verónica | Bergner, Caroline G | Mallack, Eric | Forss-Petter, Sonja | Aubourg, Patrick | Bley, Annette | Engelen, Marc | Eichler, Florian | Lund, Troy C | Pujol, Aurora | Köhler, Wolfgang | Kühl, Jörn-Sven | Berger, Johannes

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy Journal Article

In: EBioMedicine, vol. 96, pp. 104781, 2023, ISSN: 2352-3964.

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