Zobrazeno 1 - 10
of 396
pro vyhledávání: '"Alan R. Shuldiner"'
Autor:
Julie E. Horowitz, Neil Warner, Jeffrey Staples, Eileen Crowley, Nehal Gosalia, Ryan Murchie, Cristopher Van Hout, Karoline Fiedler, Gabriel Welch, Alejandra Klauer King, Jeffrey G. Reid, John D. Overton, Aris Baras, Alan R. Shuldiner, Anne Griffiths, Omri Gottesman, Aleixo M. Muise, Claudia Gonzaga-Jauregui
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Abstract Inflammatory bowel disease (IBD), clinically defined as Crohn’s disease (CD), ulcerative colitis (UC), or IBD-unclassified, results in chronic inflammation of the gastrointestinal tract in genetically susceptible hosts. Pediatric onset IBD
Externí odkaz:
https://doaj.org/article/1f5de0d61ecd4e8a964ff8857b3099dd
Autor:
Xing Wang, Shabnam Salimi, Zhongliang Deng, James Perry, Kathleen A. Ryan, Zhizhen Li, Dongfang Liu, Elizabeth Streeten, Alan R. Shuldiner, Mao Fu
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
Abstract Wnt1-inducible signaling pathway protein-1 (WISP1) is a novel target of the Wnt pathway for modulating osteogenesis and improving bone strength. However, it is not clear if genetic variants in the WISP1 region are associated with bone minera
Externí odkaz:
https://doaj.org/article/8a2e60e25ca74bc7afe8ed71568a7358
Autor:
Liping Hou, Rachel L. Kember, Jared C. Roach, Jeffrey R. O’Connell, David W. Craig, Maja Bucan, William K. Scott, Margaret Pericak-Vance, Jonathan L. Haines, Michael H. Crawford, Alan R. Shuldiner, Francis J. McMahon
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Abstract Genotype imputation is a powerful strategy for achieving the large sample sizes required for identification of variants underlying complex phenotypes, but imputation of rare variants remains problematic. Genetically isolated populations offe
Externí odkaz:
https://doaj.org/article/6a8623fc26ce404885a3507e220acdd0
Autor:
Casey Lynnette Overby, Kristin A. Maloney, Tameka DeShawn Alestock, Justin Chavez, David Berman, Reem Maged Sharaf, Tom Fitzgerald, Eun-Young Kim, Kathleen Palmer, Alan R. Shuldiner, Braxton D. Mitchell
Publikováno v:
Journal of Personalized Medicine, Vol 5, Iss 3, Pp 264-279 (2015)
Background: Achieving high participation of communities representative of all sub-populations is needed in order to ensure broad applicability of biobank study findings. This study aimed to understand potentially mutable attitudes and opinions common
Externí odkaz:
https://doaj.org/article/ee8be427b50f48fbb5fc82123ec544c6
Autor:
Alan R. Shuldiner, Chalothorn Dan, Sarah Sharman Moser, Morton Lori C, Ming-Dauh Wang, Gabriel Chodick, Yan G. Ni, Ophira Salomon, Jessica J. Jalbert
Publikováno v:
Thrombosis and Haemostasis. 122:808-817
The objective of this study was to assess the relationship between factor XI (FXI) deficiency and the risks of bleeding and cardiovascular (CV) events. We conducted a retrospective cohort study using data from Maccabi Healthcare Services (MHS). We id
Autor:
Elizabeth A. Streeten, Braxton D. Mitchell, Toni I. Pollin, Megan Lynch, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Kristin A. Maloney, Huichun Xu, Cristopher V. Van Hout
Publikováno v:
American Journal of Medical Genetics Part A. 185:3476-3484
Founder populations may be enriched with certain genetic variants of high clinical impact compared to nonfounder populations due to bottleneck events and genetic drift. Using exome sequencing (ES), we quantified the load of pathogenic variants that m
Autor:
Chuan Gao, Anthony Marcketta, Joshua D. Backman, Colm O'Dushlaine, Jeffrey Staples, Manuel Allen Revez Ferreira, Luca A. Lotta, John D. Overton, Jeffrey G. Reid, Tooraj Mirshahi, null Regeneron Genetics Center, null Geisinger Regeneron Discovehr Collaboration, Aris Baras, Gonçalo Abecasis, Alan R. Shuldiner, Cristopher V. Van Hout, Shane McCarthy
Publikováno v:
Genetic Epidemiology
Serum alanine aminotransferase (ALT) and aspartate aminotransferase (AST) are biomarkers for liver health. Here we report the largest genome‐wide association analysis to date of serum ALT and AST levels in over 388k people of European ancestry from
Autor:
Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Noa Ruhrman-Shahar, Lina Basel-Salmon, Avi Fellner, Ofir Hagari-Bechar, Gabriel Arie Lidzbarsky, Hadar Brown-Shalev, Naama Orenstein, Lily Bazak
Publikováno v:
Genetics in Medicine. 23:1095-1100
Purpose To investigate the effectiveness of phenotype-based search approaches using publicly available online databases. Methods We included consecutively solved cases from our exome database. For each case, the combination of Human Phenotype Ontolog
Autor:
Rivka Sukenik-Halevy, Noa Ruhrman-Shahar, Lina Basel-Salmon, Noy Azulay, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Ofir Hagari, Lily Bazak, Nurit Magal, Gabriel Arie Lidzbarsky, Naama Orenstein
Publikováno v:
Prenatal Diagnosis. 41:701-707
Objective Laboratories performing prenatal exome sequencing (ES) frequently limit analysis to predetermined gene lists. We used a diagnostic postnatal ES cohort to assess how many of the genes diagnosed are not included in a number of select fixed li
Autor:
Jack A. Kosmicki, Charles Paulding, Nan Lin, Andrew J. Murphy, Jerome I. Rotter, Brian Zambrowicz, Niek Verweij, Luca A. Lotta, Michal L. Schwartzman, Giusy Della Gatta, Yii-Der Ida Chen, Alexander H. Li, Suganthi Balasubramanian, Jason M. Torres, Hyun Min Kang, Rory Collins, Parsa Akbari, Michael E. Dunn, Gonçalo R. Abecasis, Christian Benner, David J. Carey, Svati H. Shah, Jonathan Marchini, Giovanni Coppola, Marcus B. Jones, Olle Melander, Christopher D. Still, Yi-Ya Fang, Olukayode A. Sosina, Manuel A. R. Ferreira, Roberto Tapia-Conyer, Michael Cantor, Aris N. Economides, Dylan Sun, Adam E. Locke, Jonathan V. Pascale, Daniel J. Rader, Ankit Gilani, Joelle Mbatchou, Jesus Alegre-Díaz, Mark W. Sleeman, Trikaldarshi Persaud, Jeffrey G. Reid, Pablo Kuri-Morales, Jaime Berumen-Campos, John D. Overton, Aris Baras, Ercument Dirice, Sakib Hossain, Alicia Hawes, George D. Yancopoulos, Jonathan Emberson, Victor Garcia, Judith Altarejos, Lori Khrimian, Katia Karalis, William E. Kraus, Tooraj Mirshahi, Kevin Agostinucci, Alan R. Shuldiner
Publikováno v:
Science
Introduction Obesity accounts for a substantial and growing burden of disease globally. Body adiposity is highly heritable, and human genetic studies can lead to biological and therapeutic insights. Rationale Whole-exome sequencing of hundreds of tho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df724bff85dd4d7320fb650eae3fa2a5
https://doi.org/10.1126/science.abf8683
https://doi.org/10.1126/science.abf8683