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1.

Polygenic Risk Scores Expand to Obesity.

Torkamani, Ali; Topol, Eric.

Cell ; 177(3): 518-520, 2019 04 18.

Artículo en Inglés | MEDLINE | ID: mdl-31002792

2.

Unveiling the Role of the Most Impactful Cardiovascular Risk Locus through Haplotype Editing.

Lo Sardo, Valentina; Chubukov, Pavel; Ferguson, William; Kumar, Aditya; Teng, Evan L; Duran, Michael; Zhang, Lei; Cost, Gregory; Engler, Adam J; Urnov, Fyodor; Topol, Eric J; Torkamani, Ali; Baldwin, Kristin K.

Cell ; 175(7): 1796-1810.e20, 2018 12 13.

Artículo en Inglés | MEDLINE | ID: mdl-30528432

3.

High-Definition Medicine.

Torkamani, Ali; Andersen, Kristian G; Steinhubl, Steven R; Topol, Eric J.

Cell ; 170(5): 828-843, 2017 Aug 24.

Artículo en Inglés | MEDLINE | ID: mdl-28841416

4.

Whole-Genome Sequencing of a Healthy Aging Cohort.

Erikson, Galina A; Bodian, Dale L; Rueda, Manuel; Molparia, Bhuvan; Scott, Erick R; Scott-Van Zeeland, Ashley A; Topol, Sarah E; Wineinger, Nathan E; Niederhuber, John E; Topol, Eric J; Torkamani, Ali.

Cell ; 165(4): 1002-11, 2016 May 05.

Artículo en Inglés | MEDLINE | ID: mdl-27114037

5.

Reshaping antibody diversity.

Wang, Feng; Ekiert, Damian C; Ahmad, Insha; Yu, Wenli; Zhang, Yong; Bazirgan, Omar; Torkamani, Ali; Raudsepp, Terje; Mwangi, Waithaka; Criscitiello, Michael F; Wilson, Ian A; Schultz, Peter G; Smider, Vaughn V.

Cell ; 153(6): 1379-93, 2013 Jun 06.

Artículo en Inglés | MEDLINE | ID: mdl-23746848

6.

Ebola Virus Transmission Initiated by Relapse of Systemic Ebola Virus Disease.

Mbala-Kingebeni, Placide; Pratt, Catherine; Mutafali-Ruffin, Mbusa; Pauthner, Matthias G; Bile, Faustin; Nkuba-Ndaye, Antoine; Black, Allison; Kinganda-Lusamaki, Eddy; Faye, Martin; Aziza, Amuri; Diagne, Moussa M; Mukadi, Daniel; White, Bailey; Hadfield, James; Gangavarapu, Karthik; Bisento, Nella; Kazadi, Donatien; Nsunda, Bibiche; Akonga, Marceline; Tshiani, Olivier; Misasi, John; Ploquin, Aurelie; Epaso, Victor; Sana-Paka, Emilia; N'kasar, Yannick Tutu Tshia; Mambu, Fabrice; Edidi, Francois; Matondo, Meris; Bula Bula, Junior; Diallo, Boubacar; Keita, Mory; Belizaire, Marie R D; Fall, Ibrahima S; Yam, Abdoulaye; Mulangu, Sabue; Rimoin, Anne W; Salfati, Elias; Torkamani, Ali; Suchard, Marc A; Crozier, Ian; Hensley, Lisa; Rambaut, Andrew; Faye, Ousmane; Sall, Amadou; Sullivan, Nancy J; Bedford, Trevor; Andersen, Kristian G; Wiley, Michael R; Ahuka-Mundeke, Steve; Muyembe Tamfum, Jean-Jacques.

N Engl J Med ; 384(13): 1240-1247, 2021 04 01.

Artículo en Inglés | MEDLINE | ID: mdl-33789012

7.

Genome-Wide Analysis of Structural Variants in Parkinson Disease.

Billingsley, Kimberley J; Ding, Jinhui; Jerez, Pilar Alvarez; Illarionova, Anastasia; Levine, Kristin; Grenn, Francis P; Makarious, Mary B; Moore, Anni; Vitale, Daniel; Reed, Xylena; Hernandez, Dena; Torkamani, Ali; Ryten, Mina; Hardy, John; Chia, Ruth; Scholz, Sonja W; Traynor, Bryan J; Dalgard, Clifton L; Ehrlich, Debra J; Tanaka, Toshiko; Ferrucci, Luigi; Beach, Thomas G; Serrano, Geidy E; Quinn, John P; Bubb, Vivien J; Collins, Ryan L; Zhao, Xuefang; Walker, Mark; Pierce-Hoffman, Emma; Brand, Harrison; Talkowski, Michael E; Casey, Bradford; Cookson, Mark R; Markham, Androo; Nalls, Mike A; Mahmoud, Medhat; Sedlazeck, Fritz J; Blauwendraat, Cornelis; Gibbs, J Raphael; Singleton, Andrew B.

Ann Neurol ; 93(5): 1012-1022, 2023 05.

Artículo en Inglés | MEDLINE | ID: mdl-36695634

8.

The personal and clinical utility of polygenic risk scores.

Torkamani, Ali; Wineinger, Nathan E; Topol, Eric J.

Nat Rev Genet ; 19(9): 581-590, 2018 09.

Artículo en Inglés | MEDLINE | ID: mdl-29789686

9.

Large-scale rare variant burden testing in Parkinson's disease.

Makarious, Mary B; Lake, Julie; Pitz, Vanessa; Ye Fu, Allen; Guidubaldi, Joseph L; Solsberg, Caroline Warly; Bandres-Ciga, Sara; Leonard, Hampton L; Kim, Jonggeol Jeffrey; Billingsley, Kimberley J; Grenn, Francis P; Jerez, Pilar Alvarez; Alvarado, Chelsea X; Iwaki, Hirotaka; Ta, Michael; Vitale, Dan; Hernandez, Dena; Torkamani, Ali; Ryten, Mina; Hardy, John; Scholz, Sonja W; Traynor, Bryan J; Dalgard, Clifton L; Ehrlich, Debra J; Tanaka, Toshiko; Ferrucci, Luigi; Beach, Thomas G; Serrano, Geidy E; Real, Raquel; Morris, Huw R; Ding, Jinhui; Gibbs, J Raphael; Singleton, Andrew B; Nalls, Mike A; Bhangale, Tushar; Blauwendraat, Cornelis.

Brain ; 146(11): 4622-4632, 2023 11 02.

Artículo en Inglés | MEDLINE | ID: mdl-37348876

10.

Diverse reprogramming codes for neuronal identity.

Tsunemoto, Rachel; Lee, Sohyon; Szucs, Attila; Chubukov, Pavel; Sokolova, Irina; Blanchard, Joel W; Eade, Kevin T; Bruggemann, Jacob; Wu, Chunlei; Torkamani, Ali; Sanna, Pietro Paolo; Baldwin, Kristin K.

Nature ; 557(7705): 375-380, 2018 05.

Artículo en Inglés | MEDLINE | ID: mdl-29743677

11.

Nidogen-1 could play a role in diabetic kidney disease development in type 2 diabetes: a genome-wide association meta-analysis.

Khattab, Ahmed; Torkamani, Ali.

Hum Genomics ; 16(1): 47, 2022 10 21.

Artículo en Inglés | MEDLINE | ID: mdl-36271454

12.

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.

Bainbridge, Matthew N; Mazumder, Aloran; Ogasawara, Daisuke; Abou Jamra, Rami; Bernard, Geneviève; Bertini, Enrico; Burglen, Lydie; Cope, Heidi; Crawford, Ali; Derksen, Alexa; Dure, Leon; Gantz, Emily; Koch-Hogrebe, Margarete; Hurst, Anna C E; Mahida, Sonal; Marshall, Paige; Micalizzi, Alessia; Novelli, Antonio; Peng, Hongfan; Rodriguez, Diana; Robbins, Shira L; Rutledge, S Lane; Scalise, Roberta; Schließke, Sophia; Shashi, Vandana; Srivastava, Siddharth; Thiffault, Isabella; Topol, Sarah; Qebibo, Leila; Wieczorek, Dagmar; Cravatt, Benjamin; Haricharan, Svasti; Torkamani, Ali; Friedman, Jennifer.

Brain ; 145(10): 3383-3390, 2022 10 21.

Artículo en Inglés | MEDLINE | ID: mdl-35737950

13.

Gain of function of a metalloproteinase associated with multiple myeloma, bicuspid aortic valve, and Von Hippel-Lindau syndrome.

Snipas, Scott J; Jappelli, Roberto; Torkamani, Ali; Paternostro, Giovanni; Salvesen, Guy S.

Biochem J ; 479(14): 1533-1542, 2022 07 29.

Artículo en Inglés | MEDLINE | ID: mdl-35789254

14.

AudioChip: A Deep Phenotyping Approach for Deconstructing and Quantifying Audiological Phenotypes of Self-Reported Speech Perception Difficulties.

Bhatt, Ishan Sunilkumar; Dias, Raquel; Wineinger, Nathan; Pratt, Sheila; Wang, Jin; Washnik, Nilesh; Guthrie, O'neil; Wilder, Jason; Torkamani, Ali.

Ear Hear ; 43(3): 1023-1036, 2022.

Artículo en Inglés | MEDLINE | ID: mdl-34860719

15.

Reliability of genomic variants across different next-generation sequencing platforms and bioinformatic processing pipelines.

Weißbach, Stephan; Sys, Stanislav; Hewel, Charlotte; Todorov, Hristo; Schweiger, Susann; Winter, Jennifer; Pfenninger, Markus; Torkamani, Ali; Evans, Doug; Burger, Joachim; Everschor-Sitte, Karin; May-Simera, Helen Louise; Gerber, Susanne.

BMC Genomics ; 22(1): 62, 2021 Jan 19.

Artículo en Inglés | MEDLINE | ID: mdl-33468057

16.

Drilling for Insight: Forecasting Phenotype from Genotype.

Torkamani, Ali.

Trends Genet ; 34(11): 821-822, 2018 11.

Artículo en Inglés | MEDLINE | ID: mdl-30220472

17.

Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection.

Chung, Wendy K; Brothers, Kyle; Bradbury, Angela; Chanprasert, Sirisak; Orlando, Lori; Torkamani, Ali; Zierhut, Heather; Ritchie, Marylyn D; Phillips, Michael; Schoden, Jennifer; Maiese, Deborah; Hendershot, Tabitha; Hamilton, Carol M; Ramos, Erin M.

Genet Med ; 23(9): 1783-1788, 2021 09.

Artículo en Inglés | MEDLINE | ID: mdl-33972721

18.

Monogenic and Polygenic Models of Coronary Artery Disease.

Muse, Evan D; Chen, Shang-Fu; Torkamani, Ali.

Curr Cardiol Rep ; 23(8): 107, 2021 07 01.

Artículo en Inglés | MEDLINE | ID: mdl-34196841

19.

Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy.

Pacheu-Grau, David; Callegari, Sylvie; Emperador, Sonia; Thompson, Kyle; Aich, Abhishek; Topol, Sarah E; Spencer, Emily G; McFarland, Robert; Ruiz-Pesini, Eduardo; Torkamani, Ali; Taylor, Robert W; Montoya, Julio; Rehling, Peter.

Hum Mol Genet ; 27(23): 4135-4144, 2018 12 01.

Artículo en Inglés | MEDLINE | ID: mdl-30452684

20.

Novel exomic rare variants associated with venous thrombosis.

Deguchi, Hiroshi; Shukla, Meenal; Hayat, Mohammed; Torkamani, Ali; Elias, Darlene J; Griffin, John H.

Br J Haematol ; 190(5): 783-786, 2020 09.

Artículo en Inglés | MEDLINE | ID: mdl-32232851

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