Catechol-O-methyltransferase gene (COMT) is associated with neurocognitive functioning in patients with sickle cell disease

Authors: Heitzer, Andrew M., Rashkin, Sara R., Trpchevska, Ana, Longoria, Jennifer N., Rampersaud, Evadnie, Olufadi, Yunusa, Wang, Winfred C., Raches, Darcy, Potter, Brian, Steinberg, Martin H, King, Allison A., Kang, Guolian, Takemoto, Clifford M., Hankins, Jane S.

Source: In Current Research in Translational Medicine June 2024 72(2)

Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma

Authors: Flerlage, Jamie E., Myers, Jason R., Maciaszek, Jamie L., Oak, Ninad, Rashkin, Sara R., Hui, Yawei, Wang, Yong-Dong, Chen, Wenan, Wu, Gang, Chang, Ti-Cheng, Hamilton, Kayla, Tithi, Saima S., Goldin, Lynn R., Rotunno, Melissa, Caporaso, Neil, Vogt, Aurélie, Flamish, Deborah, Wyatt, Kathleen, Liu, Jia, Tucker, Margaret, Hahn, Christopher N., Brown, Anna L., Scott, Hamish S., Mullighan, Charles, Nichols, Kim E., Metzger, Monika L., McMaster, Mary L., Yang, Jun J., Rampersaud, Evadnie

Source: In Blood 16 March 2023 141(11):1293-1307

Genetic Analysis of Lung Cancer and the Germline Impact on Somatic Mutation Burden

Authors: Gabriel, Aurélie A G, Atkins, Joshua R, Penha, Ricardo C C, Smith-Byrne, Karl, Gaborieau, Valerie, Voegele, Catherine, Abedi-Ardekani, Behnoush, Milojevic, Maja, Olaso, Robert, Meyer, Vincent, Boland, Anne, Deleuze, Jean François, Zaridze, David, Mukeriya, Anush, Swiatkowska, Beata, Janout, Vladimir, Schejbalová, Miriam, Mates, Dana, Stojšić, Jelena, Ognjanovic, Miodrag, Witte, John S, Rashkin, Sara R, Kachuri, Linda, Hung, Rayjean J, Kar, Siddhartha, Brennan, Paul, Sertier, Anne-Sophie, Ferrari, Anthony, Viari, Alain, Johansson, Mattias, Amos, Christopher I, Foll, Matthieu, McKay, James D

Source: Journal of the National Cancer Institute. 114(8):1159-1166

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100159754845.0x000001&indx=1&recIds=ETOCvdc_100159754845.0x000001

A genome‐wide association study of obstructive heart defects among participants in the National Birth Defects Prevention Study

Authors: Rashkin, Sara R., Cleves, Mario, Shaw, Gary M., Nembhard, Wendy N., Nestoridi, Eirini, Jenkins, Mary M., Romitti, Paul A., Lou, Xiang‐Yang, Browne, Marilyn L., Mitchell, Laura E., Olshan, Andrew F., Lomangino, Kevin, Bhattacharyya, Sudeepa, Witte, John S., Hobbs, Charlotte A.

Source: American journal of medical genetics.Part A. 188(8):2303-2314

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100155931525.0x000001&indx=1&recIds=ETOCvdc_100155931525.0x000001

Fetal hemoglobin modulates neurocognitive performance in sickle cell anemia✰,✰✰

Authors: Heitzer, Andrew M., Longoria, Jennifer, Rampersaud, Evadnie, Rashkin, Sara R., Estepp, Jeremie H., Okhomina, Victoria I., Wang, Winfred C., Raches, Darcy, Potter, Brian, Steinberg, Martin H., King, Allison A., Kang, Guolian, Hankins, Jane S.

Source: In Current Research in Translational Medicine July 2022 70(3)

A Novel One‐Sample Mendelian Randomization Approach for Count‐Type Outcomes That Is Robust to Correlated and Uncorrelated Pleiotropic Effects.

Authors: Liyanage, Janaka S. S., Hankins, Jane S., Estepp, Jeremie H., Srivastava, Deokumar, Rashkin, Sara R., Takemoto, Clifford, Li, Yun, Cui, Yuehua, Mori, Motomi, Weiss, Mitchell J., Kang, Guolian

Source: Genetic Epidemiology; Feb2025, Vol. 49 Issue 1, p1-15, 15p

A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease

Authors: Rampersaud, Evadnie ^*, Kang, Guolian ^*, Palmer, Lance E., Rashkin, Sara R., Wang, Shuoguo, Bi, Wenjian, Alberts, Nicole M., Anghelescu, Doralina, Barton, Martha, Birch, Kirby, Boulos, Nidal, Brandow, Amanda M., Brooke, Russell John, Chang, Ti-Cheng, Chen, Wenan, Cheng, Yong, Ding, Juan, Easton, John, Hodges, Jason R., Kanne, Celeste K., Levy, Shawn, Mulder, Heather, Patel, Ashwin P., Puri, Latika, Rosencrance, Celeste, Rusch, Michael, Sapkota, Yadav, Sioson, Edgar, Sharma, Akshay, Tang, Xing, Thrasher, Andrew, Wang, Winfred, Yao, Yu, Yasui, Yutaka, Yergeau, Donald, Hankins, Jane S., Sheehan, Vivien A., Downing, James R., Estepp, Jeremie H., Zhang, Jinghui, DeBaun, Michael, Wu, Gang ^**, Weiss, Mitchell J. ^*

Source: In Blood Advances 27 July 2021 5(14):2839-2851

Generalization of a genetic risk score for time to first albuminuria in children with sickle cell anaemia: SCCRIP cohort study results

Authors: Rashkin, Sara R., Rampersaud, Evadnie, Kang, Guolian, Ataga, Kenneth I., Hankins, Jane S., Wang, Winfred, Estepp, Jeremie H., Weiss, Mitchell J., Lebensburger, Jeffrey, Zahr, Rima S.

Source: British journal of haematology. 194(2):469-473

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100142027714.0x000001&indx=1&recIds=ETOCvdc_100142027714.0x000001

Genomewide Meta‐Analysis Validates a Role for S1PR1 in Microtubule Targeting Agent‐Induced Sensory Peripheral Neuropathy

Authors: Chua, Katherina C., Xiong, Chenling, Ho, Carol, Mushiroda, Taisei, Jiang, Chen, Mulkey, Flora, Lai, Dongbing, Schneider, Bryan P., Rashkin, Sara R., Witte, John S., Friedman, Paula N., Ratain, Mark J., McLeod, Howard L., Rugo, Hope S., Shulman, Lawrence N., Kubo, Michiaki, Owzar, Kouros, Kroetz, Deanna L.

Source: Clinical pharmacology & therapeutics. 108(3):625-634

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100108113527.0x000001&indx=1&recIds=ETOCvdc_100108113527.0x000001

A Pharmacogenetic Prediction Model of Progression‐Free Survival in Breast Cancer using Genome‐Wide Genotyping Data from CALGB 40502 (Alliance)

Authors: Rashkin, Sara R., Chua, Katherina C., Ho, Carol, Mulkey, Flora, Jiang, Chen, Mushiroda, Tasei, Kubo, Michiaki, Friedman, Paula N., Rugo, Hope S., McLeod, Howard L., Ratain, Mark J., Castillos, Francisco, Naughton, Michael, Overmoyer, Beth, Toppmeyer, Deborah, Witte, John S., Owzar, Kouros, Kroetz, Deanna L.

Source: Clinical pharmacology & therapeutics. 105(3):738-745

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100117506226.0x000001&indx=1&recIds=ETOCvdc_100117506226.0x000001

Immune-mediated genetic pathways resulting in pulmonary function impairment increase lung cancer susceptibility

Authors: Kachuri, Linda, Johansson, Mattias, Rashkin, Sara R., Graff, Rebecca E., Bossé, Yohan, Manem, Venkata, Caporaso, Neil E., Landi, Maria Teresa, Christiani, David C., Vineis, Paolo, Liu, Geoffrey, Scelo, Ghislaine, Zaridze, David, Shete, Sanjay S., Albanes, Demetrius, Aldrich, Melinda C., Tardón, Adonina, Rennert, Gad, Chen, Chu, Goodman, Gary E., Doherty, Jennifer A., Bickeböller, Heike, Field, John K., Davies, Michael P., Dawn Teare, M., Kiemeney, Lambertus A., Bojesen, Stig E., Haugen, Aage, Zienolddiny, Shanbeh, Lam, Stephen, Le Marchand, Loïc, Cheng, Iona, Schabath, Matthew B., Duell, Eric J., Andrew, Angeline S., Manjer, Jonas, Lazarus, Philip, Arnold, Susanne, McKay, James D., Emami, Nima C., Warkentin, Matthew T., Brhane, Yonathan, Obeidat, Ma'en, Martin, Richard M., Relton, Caroline, Davey Smith, George, Haycock, Philip C., Amos, Christopher I., Brennan, Paul, Witte, John S., Hung, Rayjean J.

Source: Nature communications. 11(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194089997.0x000001&indx=1&recIds=ETOCvdc_100194089997.0x000001

Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction

Authors: Kachuri, Linda, Graff, Rebecca E., Smith-Byrne, Karl, Meyers, Travis J., Rashkin, Sara R., Ziv, Elad, Witte, John S., Johansson, Mattias

Source: Nature communications. 11(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100188981216.0x000001&indx=1&recIds=ETOCvdc_100188981216.0x000001

The landscape of host genetic factors involved in immune response to common viral infections

Authors: Kachuri, Linda, Francis, Stephen S., Morrison, Maike L., Wendt, George A., Bossé, Yohan, Cavazos, Taylor B., Rashkin, Sara R., Ziv, Elad, Witte, John S.

Source: Genome medicine. 12(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100180406936.0x000001&indx=1&recIds=ETOCvdc_100180406936.0x000001

Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts

Authors: Rashkin, Sara R., Graff, Rebecca E., Kachuri, Linda, Thai, Khanh K., Alexeeff, Stacey E., Blatchins, Maruta A., Cavazos, Taylor B., Corley, Douglas A., Emami, Nima C., Hoffman, Joshua D., Jorgenson, Eric, Kushi, Lawrence H., Meyers, Travis J., Van Den Eeden, Stephen K., Ziv, Elad, Habel, Laurel A., Hoffmann, Thomas J., Sakoda, Lori C., Witte, John S.

Source: Nature communications. 11(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100174516128.0x000001&indx=1&recIds=ETOCvdc_100174516128.0x000001

A Versatile and Efficient Novel Approach for Mendelian Randomization Analysis with Application to Assess the Causal Effect of Fetal Hemoglobin on Anemia in Sickle Cell Anemia.

Authors: Liyanage, Janaka S. S., Estepp, Jeremie H., Srivastava, Kumar, Rashkin, Sara R., Sheehan, Vivien A., Hankins, Jane S., Takemoto, Clifford M., Li, Yun, Cui, Yuehua, Mori, Motomi, Burgess, Stephen, DeBaun, Michael R., Kang, Guolian

Source: Mathematics (2227-7390); Oct2022, Vol. 10 Issue 20, p3743-N.PAG, 22p

Subject Terms: SICKLE cell anemia, FETAL hemoglobin, FALSE positive error, GENOME-wide association studies, ETIOLOGY of diseases, GENETIC variation, MICROBIAL exopolysaccharides

Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts.

Authors: Graff, Rebecca E., Cavazos, Taylor B., Thai, Khanh K., Kachuri, Linda, Rashkin, Sara R., Hoffman, Joshua D., Alexeeff, Stacey E., Blatchins, Maruta, Meyers, Travis J., Leong, Lancelote, Tai, Caroline G., Emami, Nima C., Corley, Douglas A., Kushi, Lawrence H., Ziv, Elad, Van Den Eeden, Stephen K., Jorgenson, Eric, Hoffmann, Thomas J., Habel, Laurel A., Witte, John S.

Source: Nature Communications; 2/12/2021, Vol. 12 Issue 1, p1-9, 9p

Subject Terms: PHARYNGEAL cancer, RISK assessment, MOUTH, LUNG cancer, GENETIC epidemiology, MULTIVARIABLE testing

Geographic Terms: UNITED Kingdom

Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.

Authors: Kirkham, Justin K., Estepp, Jeremie H., Weiss, Mitch J., Rashkin, Sara R.

Source: JAMA Network Open; 10/18/2023, Vol. 6 Issue 10, pe2337484-e2337484, 1p

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.