Author: "Wheeler, Marsha M." - Searchworks@Jio Institute Digital Library Search Results

Your search keyword '"Wheeler, Marsha M."' showing total 155 results

Start Over Author "Wheeler, Marsha M."

155 results on '"Wheeler, Marsha M."'

1. Author Correction: The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

Author: Venner, Eric, Patterson, Karynne, Kalra, Divya, Wheeler, Marsha M., Chen, Yi-Ju, Kalla, Sara E., Yuan, Bo, Karnes, Jason H., Walker, Kimberly, Smith, Joshua D., McGee, Sean, Radhakrishnan, Aparna, Haddad, Andrew, Empey, Philip E., Wang, Qiaoyan, Lichtenstein, Lee, Toledo, Diana, Jarvik, Gail, Musick, Anjene, and Gibbs, Richard A.
Published: 2024
Full Text: View/download PDF

2. The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

Author: Venner, Eric, Patterson, Karynne, Kalra, Divya, Wheeler, Marsha M., Chen, Yi-Ju, Kalla, Sara E., Yuan, Bo, Karnes, Jason H., Walker, Kimberly, Smith, Joshua D., McGee, Sean, Radhakrishnan, Aparna, Haddad, Andrew, Empey, Philip E., Wang, Qiaoyan, Lichtenstein, Lee, Toledo, Diana, Jarvik, Gail, Musick, Anjene, and Gibbs, Richard A.
Published: 2024
Full Text: View/download PDF

3. The genetic determinants of recurrent somatic mutations in 43,693 blood genomes

Author: Weinstock, Joshua S, Laurie, Cecelia A, Broome, Jai G, Taylor, Kent D, Guo, Xiuqing, Shuldiner, Alan R, O’Connell, Jeffrey R, Lewis, Joshua P, Boerwinkle, Eric, Barnes, Kathleen C, Chami, Nathalie, Kenny, Eimear E, Loos, Ruth JF, Fornage, Myriam, Redline, Susan, Cade, Brian E, Gilliland, Frank D, Chen, Zhanghua, Gauderman, W James, Kumar, Rajesh, Grammer, Leslie, Schleimer, Robert P, Psaty, Bruce M, Bis, Joshua C, Brody, Jennifer A, Silverman, Edwin K, Yun, Jeong H, Qiao, Dandi, Weiss, Scott T, Lasky-Su, Jessica, DeMeo, Dawn L, Palmer, Nicholette D, Freedman, Barry I, Bowden, Donald W, Cho, Michael H, Vasan, Ramachandran S, Johnson, Andrew D, Yanek, Lisa R, Becker, Lewis C, Kardia, Sharon, He, Jiang, Kaplan, Robert, Heckbert, Susan R, Smith, Nicholas L, Wiggins, Kerri L, Arnett, Donna K, Irvin, Marguerite R, Tiwari, Hemant, Correa, Adolfo, Raffield, Laura M, Gao, Yan, de Andrade, Mariza, Rotter, Jerome I, Rich, Stephen S, Manichaikul, Ani W, Konkle, Barbara A, Johnsen, Jill M, Wheeler, Marsha M, Custer, Brian S, Duggirala, Ravindranath, Curran, Joanne E, Blangero, John, Gui, Hongsheng, Xiao, Shujie, Williams, L Keoki, Meyers, Deborah A, Li, Xingnan, Ortega, Victor, McGarvey, Stephen, Gu, C Charles, Chen, Yii-Der Ida, Lee, Wen-Jane, Shoemaker, M Benjamin, Darbar, Dawood, Roden, Dan, Albert, Christine, Kooperberg, Charles, Desai, Pinkal, Blackwell, Thomas W, Abecasis, Goncalo R, Smith, Albert V, Kang, Hyun M, Mathias, Rasika, Natarajan, Pradeep, Jaiswal, Siddhartha, Reiner, Alexander P, Bick, Alexander G, and Consortium, NHLBI Trans-Omics for Precision Medicine
Subjects: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Lung, Genetic Testing, Clinical Research, Biotechnology, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Humans, Middle Aged, Hematopoiesis, Mutation, Germ-Line Mutation, Mutation, Missense, Phenotype, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium
Abstract: Nononcogenic somatic mutations are thought to be uncommon and inconsequential. To test this, we analyzed 43,693 National Heart, Lung and Blood Institute Trans-Omics for Precision Medicine blood whole genomes from 37 cohorts and identified 7131 non-missense somatic mutations that are recurrently mutated in at least 50 individuals. These recurrent non-missense somatic mutations (RNMSMs) are not clearly explained by other clonal phenomena such as clonal hematopoiesis. RNMSM prevalence increased with age, with an average 50-year-old having 27 RNMSMs. Inherited germline variation associated with RNMSM acquisition. These variants were found in genes involved in adaptive immune function, proinflammatory cytokine production, and lymphoid lineage commitment. In addition, the presence of eight specific RNMSMs associated with blood cell traits at effect sizes comparable to Mendelian genetic mutations. Overall, we found that somatic mutations in blood are an unexpectedly common phenomenon with ancestry-specific determinants and human health consequences.
Published: 2023

4. Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

Author: Werren, Elizabeth A., Peirent, Emily R., Jantti, Henna, Guxholli, Alba, Srivastava, Kinshuk Raj, Orenstein, Naama, Narayanan, Vinodh, Wiszniewski, Wojciech, Dawidziuk, Mateusz, Gawlinski, Pawel, Umair, Muhammad, Khan, Amjad, Khan, Shahid Niaz, Geneviève, David, Lehalle, Daphné, van Gassen, K. L. I., Giltay, Jacques C., Oegema, Renske, van Jaarsveld, Richard H., Rafiullah, Rafiullah, Rappold, Gudrun A., Rabin, Rachel, Pappas, John G., Wheeler, Marsha M., Bamshad, Michael J., Tsan, Yao-Chang, Johnson, Matthew B., Keegan, Catherine E., Srivastava, Anshika, and Bielas, Stephanie L.
Published: 2024
Full Text: View/download PDF

5. TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data

Author: Huang, Le, Rosen, Jonathan D, Sun, Quan, Chen, Jiawen, Wheeler, Marsha M, Zhou, Ying, Min, Yuan-I, Kooperberg, Charles, Conomos, Matthew P, Stilp, Adrienne M, Rich, Stephen S, Rotter, Jerome I, Manichaikul, Ani, Loos, Ruth JF, Kenny, Eimear E, Blackwell, Thomas W, Smith, Albert V, Jun, Goo, Sedlazeck, Fritz J, Metcalf, Ginger, Boerwinkle, Eric, Consortium, NHLBI Trans-Omics for Precision Medicine, Raffield, Laura M, Reiner, Alex P, Auer, Paul L, and Li, Yun
Subjects: Epidemiology, Biological Sciences, Health Sciences, Genetics, Biotechnology, Human Genome, Good Health and Well Being, Asian People, Genome-Wide Association Study, Humans, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Precision Medicine, Whole Genome Sequencing, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract: Current publicly available tools that allow rapid exploration of linkage disequilibrium (LD) between markers (e.g., HaploReg and LDlink) are based on whole-genome sequence (WGS) data from 2,504 individuals in the 1000 Genomes Project. Here, we present TOP-LD, an online tool to explore LD inferred with high-coverage (∼30×) WGS data from 15,578 individuals in the NHLBI Trans-Omics for Precision Medicine (TOPMed) program. TOP-LD provides a significant upgrade compared to current LD tools, as the TOPMed WGS data provide a more comprehensive representation of genetic variation than the 1000 Genomes data, particularly for rare variants and in the specific populations that we analyzed. For example, TOP-LD encompasses LD information for 150.3, 62.2, and 36.7 million variants for European, African, and East Asian ancestral samples, respectively, offering 2.6- to 9.1-fold increase in variant coverage compared to HaploReg 4.0 or LDlink. In addition, TOP-LD includes tens of thousands of structural variants (SVs). We demonstrate the value of TOP-LD in fine-mapping at the GGT1 locus associated with gamma glutamyltransferase in the African ancestry participants in UK Biobank. Beyond fine-mapping, TOP-LD can facilitate a wide range of applications that are based on summary statistics and estimates of LD. TOP-LD is freely available online.
Published: 2022

6. A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels

Author: Abe, Namiko, Abecasis, Gonçalo, Aguet, Francois, Albert, Christine, Almasy, Laura, Alonso, Alvaro, Ament, Seth, Anderson, Peter, Anugu, Pramod, Applebaum-Bowden, Deborah, Ardlie, Kristin, Arking, Dan, Arnett, Donna K, Ashley-Koch, Allison, Aslibekyan, Stella, Assimes, Tim, Auer, Paul, Avramopoulos, Dimitrios, Ayas, Najib, Balasubramanian, Adithya, Barnard, John, Barnes, Kathleen, Barr, R. Graham, Barron-Casella, Emily, Barwick, Lucas, Beaty, Terri, Beck, Gerald, Becker, Diane, Becker, Lewis, Beer, Rebecca, Beitelshees, Amber, Benjamin, Emelia, Benos, Takis, Bezerra, Marcos, Bielak, Larry, Bis, Joshua, Blackwell, Thomas, Blangero, John, Blue, Nathan, Boerwinkle, Eric, Bowden, Donald W., Bowler, Russell, Brody, Jennifer, Broeckel, Ulrich, Broome, Jai, Brown, Deborah, Bunting, Karen, Burchard, Esteban, Bustamante, Carlos, Buth, Erin, Cade, Brian, Cardwell, Jonathan, Carey, Vincent, Carrier, Julie, Carson, April P., Carty, Cara, Casaburi, Richard, Casas Romero, Juan P, Casella, James, Castaldi, Peter, Chaffin, Mark, Chang, Christy, Chang, Yi-Cheng, Chasman, Daniel, Chavan, Sameer, Chen, Bo-Juen, Chen, Wei-Min, Ida Chen, Yii-Der, Cho, Michael, Choi, Seung Hoan, Chuang, Lee-Ming, Chung, Mina, Chung, Ren-Hua, Clish, Clary, Comhair, Suzy, Conomos, Matthew, Cornell, Elaine, Correa, Adolfo, Crandall, Carolyn, Crapo, James, Cupples, L. Adrienne, Curran, Joanne, Curtis, Jeffrey, Custer, Brian, Damcott, Coleen, Darbar, Dawood, David, Sean, Davis, Colleen, Daya, Michelle, de Andrade, Mariza, de las Fuentes, Lisa, de Vries, Paul, DeBaun, Michael, Deka, Ranjan, DeMeo, Dawn, Devine, Scott, Dinh, Huyen, Doddapaneni, Harsha, Duan, Qing, Dugan-Perez, Shannon, Duggirala, Ravi, Durda, Jon Peter, Dutcher, Susan K., Eaton, Charles, Ekunwe, Lynette, El Boueiz, Adel, Ellinor, Patrick, Emery, Leslie, Erzurum, Serpil, Farber, Charles, Farek, Jesse, Fingerlin, Tasha, Flickinger, Matthew, Fornage, Myriam, Franceschini, Nora, Frazar, Chris, Fu, Mao, Fullerton, Stephanie M., Fulton, Lucinda, Gabriel, Stacey, Gan, Weiniu, Gao, Shanshan, Gao, Yan, Gass, Margery, Geiger, Heather, Gelb, Bruce, Geraci, Mark, Germer, Soren, Gerszten, Robert, Ghosh, Auyon, Gibbs, Richard, Gignoux, Chris, Gladwin, Mark, Glahn, David, Gogarten, Stephanie, Gong, Da-Wei, Goring, Harald, Graw, Sharon, Gray, Kathryn J., Grine, Daniel, Gross, Colin, Gu, C. Charles, Guan, Yue, Guo, Xiuqing, Gupta, Namrata, Haessler, Jeff, Hall, Michael, Han, Yi, Hanly, Patrick, Harris, Daniel, Hawley, Nicola L., He, Jiang, Heavner, Ben, Heckbert, Susan, Hernandez, Ryan, Herrington, David, Hersh, Craig, Hidalgo, Bertha, Hixson, James, Hobbs, Brian, Hokanson, John, Hong, Elliott, Hoth, Karin, Hsiung, Chao (Agnes), Hu, Jianhong, Hung, Yi-Jen, Huston, Haley, Hwu, Chii Min, Irvin, Marguerite Ryan, Jackson, Rebecca, Jain, Deepti, Jaquish, Cashell, Johnsen, Jill, Johnson, Andrew, Johnson, Craig, Johnston, Rich, Jones, Kimberly, Kang, Hyun Min, Kaplan, Robert, Kardia, Sharon, Kelly, Shannon, Kenny, Eimear, Kessler, Michael, Khan, Alyna, Khan, Ziad, Kim, Wonji, Kimoff, John, Kinney, Greg, Konkle, Barbara, Kooperberg, Charles, Kramer, Holly, Lange, Christoph, Lange, Ethan, Lange, Leslie, Laurie, Cathy, Laurie, Cecelia, LeBoff, Meryl, Lee, Jiwon, Lee, Sandra, Lee, Wen-Jane, LeFaive, Jonathon, Levine, David, Levy, Dan, Lewis, Joshua, Li, Xiaohui, Li, Yun, Lin, Henry, Lin, Honghuang, Lin, Xihong, Liu, Simin, Liu, Yongmei, Liu, Yu, Loos, Ruth J. F., Lubitz, Steven, Lunetta, Kathryn, Luo, James, Magalang, Ulysses, Mahaney, Michael, Make, Barry, Manichaikul, Ani, Manning, Alisa, Manson, JoAnn, Martin, Lisa, Marton, Melissa, Mathai, Susan, Mathias, Rasika, May, Susanne, McArdle, Patrick, McDonald, Merry-Lynn, McFarland, Sean, McGarvey, Stephen, McGoldrick, Daniel, McHugh, Caitlin, McNeil, Becky, Mei, Hao, Meigs, James, Menon, Vipin, Mestroni, Luisa, Metcalf, Ginger, Meyers, Deborah A, Mignot, Emmanuel, Mikulla, Julie, Min, Nancy, Minear, Mollie, Minster, Ryan L, Mitchell, Braxton D., Moll, Matt, Momin, Zeineen, Montasser, May E., Montgomery, Courtney, Muzny, Donna, Mychaleckyj, Josyf C, Nadkarni, Girish, Naik, Rakhi, Naseri, Take, Natarajan, Pradeep, Nekhai, Sergei, Nelson, Sarah C., Neltner, Bonnie, Nessner, Caitlin, Nickerson, Deborah, Nkechinyere, Osuji, North, Kari, O'Connell, Jeff, O'Connor, Tim, Ochs-Balcom, Heather, Okwuonu, Geoffrey, Pack, Allan, Paik, David T., Palmer, Nicholette, Pankow, James, Papanicolaou, George, Parker, Cora, Peloso, Gina, Peralta, Juan Manuel, Perez, Marco, Perry, James, Peters, Ulrike, Peyser, Patricia, Phillips, Lawrence S, Pleiness, Jacob, Pollin, Toni, Post, Wendy, Becker, Julia Powers, Boorgula, Meher Preethi, Preuss, Michael, Psaty, Bruce, Qasba, Pankaj, Qiao, Dandi, Qin, Zhaohui, Rafaels, Nicholas, Raffield, Laura, Rajendran, Mahitha, Ramachandran, Vasan S., Rao, D. C., Rasmussen-Torvik, Laura, Ratan, Aakrosh, Redline, Susan, Reed, Robert, Reeves, Catherine, Regan, Elizabeth, Reiner, Alex, Reupena, Muagututi‘a Sefuiva, Rice, Ken, Rich, Stephen, Robillard, Rebecca, Robine, Nicolas, Roden, Dan, Roselli, Carolina, Rotter, Jerome, Ruczinski, Ingo, Runnels, Alexi, Russell, Pamela, Ruuska, Sarah, Ryan, Kathleen, Sabino, Ester Cerdeira, Saleheen, Danish, Salimi, Shabnam, Salvi, Sejal, Salzberg, Steven, Sandow, Kevin, Sankaran, Vijay G., Santibanez, Jireh, Schwander, Karen, Schwartz, David, Sciurba, Frank, Seidman, Christine, Seidman, Jonathan, Sériès, Frédéric, Sheehan, Vivien, Sherman, Stephanie L., Shetty, Amol, Shetty, Aniket, Hui-Heng Sheu, Wayne, Shoemaker, M. Benjamin, Silver, Brian, Silverman, Edwin, Skomro, Robert, Smith, Albert Vernon, Smith, Jennifer, Smith, Josh, Smith, Nicholas, Smith, Tanja, Smoller, Sylvia, Snively, Beverly, Snyder, Michael, Sofer, Tamar, Sotoodehnia, Nona, Stilp, Adrienne M., Storm, Garrett, Streeten, Elizabeth, Su, Jessica Lasky, Sung, Yun Ju, Sylvia, Jody, Szpiro, Adam, Taliun, Daniel, Tang, Hua, Taub, Margaret, Taylor, Kent D., Taylor, Matthew, Taylor, Simeon, Telen, Marilyn, Thornton, Timothy A., Threlkeld, Machiko, Tinker, Lesley, Tirschwell, David, Tishkoff, Sarah, Tiwari, Hemant, Tong, Catherine, Tracy, Russell, Tsai, Michael, Vaidya, Dhananjay, Van Den Berg, David, VandeHaar, Peter, Vrieze, Scott, Walker, Tarik, Wallace, Robert, Walts, Avram, Wang, Fei Fei, Wang, Heming, Wang, Jiongming, Watson, Karol, Watt, Jennifer, Weeks, Daniel E., Weinstock, Joshua, Weir, Bruce, Weiss, Scott T, Weng, Lu-Chen, Wessel, Jennifer, Willer, Cristen, Williams, Kayleen, Williams, L. Keoki, Wilson, Carla, Wilson, James, Winterkorn, Lara, Wong, Quenna, Wu, Joseph, Xu, Huichun, Yanek, Lisa, Yang, Ivana, Yu, Ketian, Zekavat, Seyedeh Maryam, Zhang, Yingze, Zhao, Snow Xueyan, Zhao, Wei, Zhu, Xiaofeng, Ziv, Elad, Zody, Michael, Zoellner, Sebastian, Lindstrom, Sara, Wang, Lu, Smith, Erin N., Gordon, William, van Hylckama Vlieg, Astrid, Brody, Jennifer A., Pattee, Jack W., Haessler, Jeffrey, Brumpton, Ben M., Chasman, Daniel I., Suchon, Pierre, Chen, Ming-Huei, Turman, Constance, Germain, Marine, Wiggins, Kerri L., MacDonald, James, Braekkan, Sigrid K., Armasu, Sebastian M., Pankratz, Nathan, Jackson, Rabecca D., Nielsen, Jonas B., Giulianini, Franco, Puurunen, Marja K., Ibrahim, Manal, Heckbert, Susan R., Bammler, Theo K., Frazer, Kelly A., McCauley, Bryan M., Taylor, Kent, Pankow, James S., Reiner, Alexander P., Gabrielsen, Maiken E., Deleuze, Jean-François, O'Donnell, Chris J., Kim, Jihye, McKnight, Barbara, Kraft, Peter, Hansen, John-Bjarne, Rosendaal, Frits R., Heit, John A., Psaty, Bruce M., Tang, Weihong, Hveem, Kristian, Ridker, Paul M., Morange, Pierre-Emmanuel, Johnson, Andrew D., Kabrhel, Christopher, AlexandreTrégouët, David, Smith, Nicholas L., de Vries, Paul S., Reventun, Paula, Brown, Michael R., Heath, Adam S., Huffman, Jennifer E., Le, Ngoc-Quynh, Bebo, Allison, Temprano-Sagrera, Gerard, Raffield, Laura M., Ozel, Ayse Bilge, Thibord, Florian, Lewis, Joshua P., Rodriguez, Benjamin A. T., Polasek, Ozren, Yanek, Lisa R., Carrasquilla, German D., Marioni, Riccardo E., Kleber, Marcus E., Trégouët, David-Alexandre, Yao, Jie, Li-Gao, Ruifang, Joshi, Peter K., Trompet, Stella, Martinez-Perez, Angel, Ghanbari, Mohsen, Howard, Tom E., Reiner, Alex P., Arvanitis, Marios, Ryan, Kathleen A., Bartz, Traci M., Rudan, Igor, Faraday, Nauder, Linneberg, Allan, Davies, Gail, Delgado, Graciela E., Klaric, Lucija, Noordam, Raymond, van Rooij, Frank, Curran, Joanne E., Wheeler, Marsha M., Osburn, William O., O'Connell, Jeffrey R., Beswick, Andrew, Kolcic, Ivana, Souto, Juan Carlos, Becker, Lewis C., Hansen, Torben, Doyle, Margaret F., Harris, Sarah E., Moissl, Angela P., Rich, Stephen S., Campbell, Harry, Stott, David J., Soria, Jose Manuel, de Maat, Moniek P. M., Brody, Lawrence C., Auer, Paul L., Ben-Shlomo, Yoav, Hayward, Caroline, Mathias, Rasika A., Kilpeläinen, Tuomas O., Lange, Leslie A., Cox, Simon R., März, Winfried, Rotter, Jerome I., Mook-Kanamori, Dennis O., Wilson, James F., van der Harst, Pim, Jukema, J. Wouter, Ikram, M. Arfan, Desch, Karl C., Sabater-Lleal, Maria, Lowenstein, Charles J., and Morrison, Alanna C.
Published: 2024
Full Text: View/download PDF

7. Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program

Author: Wheeler, Marsha M, Stilp, Adrienne M, Rao, Shuquan, Halldórsson, Bjarni V, Beyter, Doruk, Wen, Jia, Mihkaylova, Anna V, McHugh, Caitlin P, Lane, John, Jiang, Min-Zhi, Raffield, Laura M, Jun, Goo, Sedlazeck, Fritz J, Metcalf, Ginger, Yao, Yao, Bis, Joshua B, Chami, Nathalie, de Vries, Paul S, Desai, Pinkal, Floyd, James S, Gao, Yan, Kammers, Kai, Kim, Wonji, Moon, Jee-Young, Ratan, Aakrosh, Yanek, Lisa R, Almasy, Laura, Becker, Lewis C, Blangero, John, Cho, Michael H, Curran, Joanne E, Fornage, Myriam, Kaplan, Robert C, Lewis, Joshua P, Loos, Ruth JF, Mitchell, Braxton D, Morrison, Alanna C, Preuss, Michael, Psaty, Bruce M, Rich, Stephen S, Rotter, Jerome I, Tang, Hua, Tracy, Russell P, Boerwinkle, Eric, Abecasis, Goncalo R, Blackwell, Thomas W, Smith, Albert V, Johnson, Andrew D, Mathias, Rasika A, Nickerson, Deborah A, Conomos, Matthew P, Li, Yun, Þorsteinsdóttir, Unnur, Magnússon, Magnús K, Stefansson, Kari, Pankratz, Nathan D, Bauer, Daniel E, Auer, Paul L, and Reiner, Alex P
Subjects: Epidemiology, Biological Sciences, Health Sciences, Genetics, Hematology, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Cardiovascular, Good Health and Well Being, Humans, Genome-Wide Association Study, Whole Genome Sequencing, Blood Cells
Abstract: Genome-wide association studies have identified thousands of single nucleotide variants and small indels that contribute to variation in hematologic traits. While structural variants are known to cause rare blood or hematopoietic disorders, the genome-wide contribution of structural variants to quantitative blood cell trait variation is unknown. Here we utilized whole genome sequencing data in ancestrally diverse participants of the NHLBI Trans Omics for Precision Medicine program (N = 50,675) to detect structural variants associated with hematologic traits. Using single variant tests, we assessed the association of common and rare structural variants with red cell-, white cell-, and platelet-related quantitative traits and observed 21 independent signals (12 common and 9 rare) reaching genome-wide significance. The majority of these associations (N = 18) replicated in independent datasets. In genome-editing experiments, we provide evidence that a deletion associated with lower monocyte counts leads to disruption of an S1PR3 monocyte enhancer and decreased S1PR3 expression.
Published: 2022

8. Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed

Author: Taub, Margaret A, Conomos, Matthew P, Keener, Rebecca, Iyer, Kruthika R, Weinstock, Joshua S, Yanek, Lisa R, Lane, John, Miller-Fleming, Tyne W, Brody, Jennifer A, Raffield, Laura M, McHugh, Caitlin P, Jain, Deepti, Gogarten, Stephanie M, Laurie, Cecelia A, Keramati, Ali, Arvanitis, Marios, Smith, Albert V, Heavner, Benjamin, Barwick, Lucas, Becker, Lewis C, Bis, Joshua C, Blangero, John, Bleecker, Eugene R, Burchard, Esteban G, Celedón, Juan C, Chang, Yen Pei C, Custer, Brian, Darbar, Dawood, de las Fuentes, Lisa, DeMeo, Dawn L, Freedman, Barry I, Garrett, Melanie E, Gladwin, Mark T, Heckbert, Susan R, Hidalgo, Bertha A, Irvin, Marguerite R, Islam, Talat, Johnson, W Craig, Kaab, Stefan, Launer, Lenore, Lee, Jiwon, Liu, Simin, Moscati, Arden, North, Kari E, Peyser, Patricia A, Rafaels, Nicholas, Seidman, Christine, Weeks, Daniel E, Wen, Fayun, Wheeler, Marsha M, Williams, L Keoki, Yang, Ivana V, Zhao, Wei, Aslibekyan, Stella, Auer, Paul L, Bowden, Donald W, Cade, Brian E, Chen, Zhanghua, Cho, Michael H, Cupples, L Adrienne, Curran, Joanne E, Daya, Michelle, Deka, Ranjan, Eng, Celeste, Fingerlin, Tasha E, Guo, Xiuqing, Hou, Lifang, Hwang, Shih-Jen, Johnsen, Jill M, Kenny, Eimear E, Levin, Albert M, Liu, Chunyu, Minster, Ryan L, Naseri, Take, Nouraie, Mehdi, Reupena, Muagututi A Sefuiva, Sabino, Ester C, Smith, Jennifer A, Smith, Nicholas L, Lasky-Su, Jessica, Taylor, James G, Telen, Marilyn J, Tiwari, Hemant K, Tracy, Russell P, White, Marquitta J, Zhang, Yingze, Wiggins, Kerri L, Weiss, Scott T, Vasan, Ramachandran S, Taylor, Kent D, Sinner, Moritz F, Silverman, Edwin K, Shoemaker, M Benjamin, Sheu, Wayne H-H, Sciurba, Frank, Schwartz, David A, Rotter, Jerome I, Roden, Daniel, Redline, Susan, and Raby, Benjamin A
Subjects: Epidemiology, Biological Sciences, Health Sciences, Genetics, Human Genome, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Generic health relevance, Good Health and Well Being, NHLBI CARE Network, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Hematology and Hemostasis Working Group, TOPMed Structural Variation Working Group
Abstract: Genetic studies on telomere length are important for understanding age-related diseases. Prior GWAS for leukocyte TL have been limited to European and Asian populations. Here, we report the first sequencing-based association study for TL across ancestrally-diverse individuals (European, African, Asian and Hispanic/Latino) from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program. We used whole genome sequencing (WGS) of whole blood for variant genotype calling and the bioinformatic estimation of telomere length in n=109,122 individuals. We identified 59 sentinel variants (p-value
Published: 2022

9. Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis

Author: Weinstock, Joshua S., Gopakumar, Jayakrishnan, Burugula, Bala Bharathi, Uddin, Md Mesbah, Jahn, Nikolaus, Belk, Julia A., Bouzid, Hind, Daniel, Bence, Miao, Zhuang, Ly, Nghi, Mack, Taralynn M., Luna, Sofia E., Prothro, Katherine P., Mitchell, Shaneice R., Laurie, Cecelia A., Broome, Jai G., Taylor, Kent D., Guo, Xiuqing, Sinner, Moritz F., von Falkenhausen, Aenne S., Kääb, Stefan, Shuldiner, Alan R., O’Connell, Jeffrey R., Lewis, Joshua P., Boerwinkle, Eric, Barnes, Kathleen C., Chami, Nathalie, Kenny, Eimear E., Loos, Ruth J. F., Fornage, Myriam, Hou, Lifang, Lloyd-Jones, Donald M., Redline, Susan, Cade, Brian E., Psaty, Bruce M., Bis, Joshua C., Brody, Jennifer A., Silverman, Edwin K., Yun, Jeong H., Qiao, Dandi, Palmer, Nicholette D., Freedman, Barry I., Bowden, Donald W., Cho, Michael H., DeMeo, Dawn L., Vasan, Ramachandran S., Yanek, Lisa R., Becker, Lewis C., Kardia, Sharon L. R., Peyser, Patricia A., He, Jiang, Rienstra, Michiel, Van der Harst, Pim, Kaplan, Robert, Heckbert, Susan R., Smith, Nicholas L., Wiggins, Kerri L., Arnett, Donna K., Irvin, Marguerite R., Tiwari, Hemant, Cutler, Michael J., Knight, Stacey, Muhlestein, J. Brent, Correa, Adolfo, Raffield, Laura M., Gao, Yan, de Andrade, Mariza, Rotter, Jerome I., Rich, Stephen S., Tracy, Russell P., Konkle, Barbara A., Johnsen, Jill M., Wheeler, Marsha M., Smith, J. Gustav, Melander, Olle, Nilsson, Peter M., Custer, Brian S., Duggirala, Ravindranath, Curran, Joanne E., Blangero, John, McGarvey, Stephen, Williams, L. Keoki, Xiao, Shujie, Yang, Mao, Gu, C. Charles, Chen, Yii-Der Ida, Lee, Wen-Jane, Marcus, Gregory M., Kane, John P., Pullinger, Clive R., Shoemaker, M. Benjamin, Darbar, Dawood, Roden, Dan M., Albert, Christine, Kooperberg, Charles, Zhou, Ying, Manson, JoAnn E., Desai, Pinkal, Johnson, Andrew D., Mathias, Rasika A., Blackwell, Thomas W., Abecasis, Goncalo R., Smith, Albert V., Kang, Hyun M., Satpathy, Ansuman T., Natarajan, Pradeep, Kitzman, Jacob O., Whitsel, Eric A., Reiner, Alexander P., Bick, Alexander G., and Jaiswal, Siddhartha
Published: 2023
Full Text: View/download PDF

10. Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Author: Bick, Alexander G, Weinstock, Joshua S, Nandakumar, Satish K, Fulco, Charles P, Bao, Erik L, Zekavat, Seyedeh M, Szeto, Mindy D, Liao, Xiaotian, Leventhal, Matthew J, Nasser, Joseph, Chang, Kyle, Laurie, Cecelia, Burugula, Bala Bharathi, Gibson, Christopher J, Lin, Amy E, Taub, Margaret A, Aguet, Francois, Ardlie, Kristin, Mitchell, Braxton D, Barnes, Kathleen C, Moscati, Arden, Fornage, Myriam, Redline, Susan, Psaty, Bruce M, Silverman, Edwin K, Weiss, Scott T, Palmer, Nicholette D, Vasan, Ramachandran S, Burchard, Esteban G, Kardia, Sharon LR, He, Jiang, Kaplan, Robert C, Smith, Nicholas L, Arnett, Donna K, Schwartz, David A, Correa, Adolfo, de Andrade, Mariza, Guo, Xiuqing, Konkle, Barbara A, Custer, Brian, Peralta, Juan M, Gui, Hongsheng, Meyers, Deborah A, McGarvey, Stephen T, Chen, Ida Yii-Der, Shoemaker, M Benjamin, Peyser, Patricia A, Broome, Jai G, Gogarten, Stephanie M, Wang, Fei Fei, Wong, Quenna, Montasser, May E, Daya, Michelle, Kenny, Eimear E, North, Kari E, Launer, Lenore J, Cade, Brian E, Bis, Joshua C, Cho, Michael H, Lasky-Su, Jessica, Bowden, Donald W, Cupples, L Adrienne, Mak, Angel CY, Becker, Lewis C, Smith, Jennifer A, Kelly, Tanika N, Aslibekyan, Stella, Heckbert, Susan R, Tiwari, Hemant K, Yang, Ivana V, Heit, John A, Lubitz, Steven A, Johnsen, Jill M, Curran, Joanne E, Wenzel, Sally E, Weeks, Daniel E, Rao, Dabeeru C, Darbar, Dawood, Moon, Jee-Young, Tracy, Russell P, Buth, Erin J, Rafaels, Nicholas, Loos, Ruth JF, Durda, Peter, Liu, Yongmei, Hou, Lifang, Lee, Jiwon, Kachroo, Priyadarshini, Freedman, Barry I, Levy, Daniel, Bielak, Lawrence F, Hixson, James E, Floyd, James S, Whitsel, Eric A, Ellinor, Patrick T, Irvin, Marguerite R, Fingerlin, Tasha E, Raffield, Laura M, Armasu, Sebastian M, and Wheeler, Marsha M
Subjects: NHLBI Trans-Omics for Precision Medicine Consortium, Hematopoietic Stem Cells, Humans, Genetic Predisposition to Disease, Intracellular Signaling Peptides and Proteins, alpha Karyopherins, DNA-Binding Proteins, Proto-Oncogene Proteins, Phenotype, Germ-Line Mutation, Genome, Human, Adult, Aged, Aged, 80 and over, Middle Aged, African Continental Ancestry Group, Africa, United States, Female, Male, National Heart, Lung, and Blood Institute (U.S.), Precision Medicine, Cell Self Renewal, Tripartite Motif Proteins, Whole Genome Sequencing, Clonal Hematopoiesis, and over, Genome, Human, National Heart, Lung, and Blood Institute, General Science & Technology
Abstract: Age is the dominant risk factor for most chronic human diseases, but the mechanisms through which ageing confers this risk are largely unknown1. The age-related acquisition of somatic mutations that lead to clonal expansion in regenerating haematopoietic stem cell populations has recently been associated with both haematological cancer2-4 and coronary heart disease5-this phenomenon is termed clonal haematopoiesis of indeterminate potential (CHIP)6. Simultaneous analyses of germline and somatic whole-genome sequences provide the opportunity to identify root causes of CHIP. Here we analyse high-coverage whole-genome sequences from 97,691 participants of diverse ancestries in the National Heart, Lung, and Blood Institute Trans-omics for Precision Medicine (TOPMed) programme, and identify 4,229 individuals with CHIP. We identify associations with blood cell, lipid and inflammatory traits that are specific to different CHIP driver genes. Association of a genome-wide set of germline genetic variants enabled the identification of three genetic loci associated with CHIP status, including one locus at TET2 that was specific to individuals of African ancestry. In silico-informed in vitro evaluation of the TET2 germline locus enabled the identification of a causal variant that disrupts a TET2 distal enhancer, resulting in increased self-renewal of haematopoietic stem cells. Overall, we observe that germline genetic variation shapes haematopoietic stem cell function, leading to CHIP through mechanisms that are specific to clonal haematopoiesis as well as shared mechanisms that lead to somatic mutations across tissues.
Published: 2020

11. Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting

Author: Bamshad, Michael J., Leal, Suzanne M., Nickerson, Deborah A., Anderson, Peter, Bacus, Tamara J., Blue, Elizabeth E., Brower, Katherine, Buckingham, Kati J., Chong, Jessica X., Cornejo Sánchez, Diana, Davis, Colleen P., Davis, Chayna J., Frazar, Christian D., Gomeztagle-Burgess, Katherine, Gordon, William W., Horike-Pyne, Martha, Hurless, Jameson R., Jarvik, Gail P., Johanson, Eric, Thomas Kolar, J., Marvin, Colby T., McGee, Sean, McGoldrick, Daniel J., Mekonnen, Betselote, Nielsen, Patrick M., Patterson, Karynne, Radhakrishnan, Aparna, Richardson, Matthew A., Roote, Gwendolin T., Ryke, Erica L., Schrauwen, Isabelle, Shively, Kathryn M., Smith, Joshua D., Tackett, Monica, Wang, Gao, Weiss, Jeffrey M., Wheeler, Marsha M., Yi, Qian, Zhang, Xiaohong, Esterhuizen, Alina I., Tiffin, Nicki, Riordan, Gillian, Wessels, Marie, Burman, Richard J., Aziz, Miriam C., Calhoun, Jeffrey D., Gunti, Jonathan, Amiri, Ezra E., Ramamurthy, Aishwarya, Mefford, Heather C., Ramesar, Raj, Wilmshurst, Jo M., and Carvill, Gemma L.
Published: 2023
Full Text: View/download PDF

12. Centers for Mendelian Genomics: A decade of facilitating gene discovery

Author: Adams, Marcia, Aguet, François, Akay, Gulsen, Anderson, Peter, Antonescu, Corina, Arachchi, Harindra M., Atik, Mehmed M., Austin-Tse, Christina A., Babb, Larry, Bacus, Tamara J., Bahrambeigi, Vahid, Balasubramanian, Suganthi, Bayram, Yavuz, Beaudet, Arthur L., Beck, Christine R., Belmont, John W., Below, Jennifer E., Bilguvar, Kaya, Boehm, Corinne D., Boerwinkle, Eric, Boone, Philip M., Bowne, Sara J., Brand, Harrison, Buckingham, Kati J., Byrne, Alicia B., Calame, Daniel, Campbell, Ian M., Cao, Xiaolong, Carvalho, Claudia, Chander, Varuna, Chang, Jaime, Chao, Katherine R., Chinn, Ivan K., Clarke, Declan, Collins, Ryan L., Cummings, Beryl, Dardas, Zain, Dawood, Moez, Delano, Kayla, DiTroia, Stephanie P., Doddapaneni, Harshavardhan, Du, Haowei, Du, Renqian, Duan, Ruizhi, Eldomery, Mohammad, Eng, Christine M., England, Eleina, Evangelista, Emily, Everett, Selin, Fatih, Jawid, Felsenfeld, Adam, Francioli, Laurent C., Frazar, Christian D., Fu, Jack, Gamarra, Emmanuel, Gambin, Tomasz, Gan, Weiniu, Gandhi, Mira, Ganesh, Vijay S., Garimella, Kiran V., Gauthier, Laura D., Giroux, Danielle, Gonzaga-Jauregui, Claudia, Goodrich, Julia K., Gordon, William W., Griffith, Sean, Grochowski, Christopher M., Gu, Shen, Gudmundsson, Sanna, Hall, Stacey J., Hansen, Adam, Harel, Tamar, Harmanci, Arif O., Herman, Isabella, Hetrick, Kurt, Hijazi, Hadia, Horike-Pyne, Martha, Hsu, Elvin, Hu, Jianhong, Huang, Yongqing, Hurless, Jameson R., Jahl, Steve, Jarvik, Gail P., Jiang, Yunyun, Johanson, Eric, Jolly, Angad, Karaca, Ender, Khayat, Michael, Knight, James, Kolar, J. Thomas, Kumar, Sushant, Lalani, Seema, Laricchia, Kristen M., Larkin, Kathryn E., Leal, Suzanne M., Lemire, Gabrielle, Lewis, Richard A., Li, He, Ling, Hua, Lipson, Rachel B., Liu, Pengfei, Lovgren, Alysia Kern, López-Giráldez, Francesc, MacMillan, Melissa P., Mangilog, Brian E., Mano, Stacy, Marafi, Dana, Marosy, Beth, Marshall, Jamie L., Martin, Renan, Marvin, Colby T., Mawhinney, Michelle, McGee, Sean, McGoldrick, Daniel J., Mehaffey, Michelle, Mekonnen, Betselote, Meng, Xiaolu, Mitani, Tadahiro, Miyake, Christina Y., Mohr, David, Morris, Shaine, Mullen, Thomas E., Murdock, David R., Murugan, Mullai, Muzny, Donna M., Myers, Ben, Neira, Juanita, Nguyen, Kevin K., Nielsen, Patrick M., Nudelman, Natalie, O’Heir, Emily, O’Leary, Melanie C., Ongaco, Chrissie, Orange, Jordan, Osei-Owusu, Ikeoluwa A., Paine, Ingrid S., Pais, Lynn S., Paschall, Justin, Patterson, Karynne, Pehlivan, Davut, Pelle, Benjamin, Penney, Samantha, Perez de Acha Chavez, Jorge, Pierce-Hoffman, Emma, Poli, Cecilia M., Punetha, Jaya, Radhakrishnan, Aparna, Richardson, Matthew A., Rodrigues, Eliete, Roote, Gwendolin T., Rosenfeld, Jill A., Ryke, Erica L., Sabo, Aniko, Sanchez, Alice, Schrauwen, Isabelle, Scott, Daryl A., Sedlazeck, Fritz, Serrano, Jillian, Shaw, Chad A., Shelford, Tameka, Shively, Kathryn M., Singer-Berk, Moriel, Smith, Joshua D., Snow, Hana, Snyder, Grace, Solomonson, Matthew, Son, Rachel G., Song, Xiaofei, Stankiewicz, Pawel, Stephan, Taylorlyn, Sutton, V. Reid, Sveden, Abigail, Sánchez, Diana Cornejo, Tackett, Monica, Talkowski, Michael, Threlkeld, Machiko S., Tiao, Grace, Udler, Miriam S., Vail, Laura, Valivullah, Zaheer, Valkanas, Elise, VanNoy, Grace E., Wang, Qingbo S., Wang, Gao, Wang, Lu, Wangler, Michael F., Watts, Nicholas A., Weisburd, Ben, Weiss, Jeffrey M., Wheeler, Marsha M., White, Janson J., Williamson, Clara E., Wilson, Michael W., Wiszniewski, Wojciech, Withers, Marjorie A., Witmer, Dane, Witzgall, Lauren, Wohler, Elizabeth, Wojcik, Monica H., Wong, Isaac, Wood, Jordan C., Wu, Nan, Xing, Jinchuan, Yang, Yaping, Yi, Qian, Yuan, Bo, Zeiger, Jordan E., Zhang, Chaofan, Zhang, Peng, Zhang, Yan, Zhang, Xiaohong, Zhang, Yeting, Zhang, Shifa, Zoghbi, Huda, van den Veyver, Igna, Baxter, Samantha M., Posey, Jennifer E., Lake, Nicole J., Sobreira, Nara, Chong, Jessica X., Buyske, Steven, Blue, Elizabeth E., Chadwick, Lisa H., Coban-Akdemir, Zeynep H., Doheny, Kimberly F., Davis, Colleen P., Lek, Monkol, Wellington, Christopher, Jhangiani, Shalini N., Gerstein, Mark, Gibbs, Richard A., Lifton, Richard P., MacArthur, Daniel G., Matise, Tara C., Lupski, James R., Valle, David, Bamshad, Michael J., Hamosh, Ada, Mane, Shrikant, Nickerson, Deborah A., Rehm, Heidi L., and O’Donnell-Luria, Anne
Published: 2022
Full Text: View/download PDF

13. A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels

Author: Gezonde Vaten, Circulatory Health, de Vries, Paul S., Reventun, Paula, Brown, Michael R., Heath, Adam S., Huffman, Jennifer E., Le, Ngoc Quynh, Bebo, Allison, Brody, Jennifer A., Temprano-Sagrera, Gerard, Raffield, Laura M., Ozel, Ayse Bilge, Thibord, Florian, Jain, Deepti, Lewis, Joshua P., Rodriguez, Benjamin A.T., Pankratz, Nathan, Taylor, Kent D., Polasek, Ozren, Chen, Ming Huei, Yanek, Lisa R., Carrasquilla, German D., Marioni, Riccardo E., Kleber, Marcus E., Trégouët, David Alexandre, Yao, Jie, Li-Gao, Ruifang, Joshi, Peter K., Trompet, Stella, Martinez-Perez, Angel, Ghanbari, Mohsen, Howard, Tom E., Reiner, Alex P., Arvanitis, Marios, Ryan, Kathleen A., Bartz, Traci M., Rudan, Igor, Faraday, Nauder, Linneberg, Allan, Ekunwe, Lynette, Davies, Gail, Delgado, Graciela E., Suchon, Pierre, Guo, Xiuqing, Rosendaal, Frits R., Klaric, Lucija, Noordam, Raymond, van Rooij, Frank, Curran, Joanne E., Wheeler, Marsha M., van der Harst, Pim, Trans-Omics for Precision Medicine (TOPMed) program, the INVENT consortium, Gezonde Vaten, Circulatory Health, de Vries, Paul S., Reventun, Paula, Brown, Michael R., Heath, Adam S., Huffman, Jennifer E., Le, Ngoc Quynh, Bebo, Allison, Brody, Jennifer A., Temprano-Sagrera, Gerard, Raffield, Laura M., Ozel, Ayse Bilge, Thibord, Florian, Jain, Deepti, Lewis, Joshua P., Rodriguez, Benjamin A.T., Pankratz, Nathan, Taylor, Kent D., Polasek, Ozren, Chen, Ming Huei, Yanek, Lisa R., Carrasquilla, German D., Marioni, Riccardo E., Kleber, Marcus E., Trégouët, David Alexandre, Yao, Jie, Li-Gao, Ruifang, Joshi, Peter K., Trompet, Stella, Martinez-Perez, Angel, Ghanbari, Mohsen, Howard, Tom E., Reiner, Alex P., Arvanitis, Marios, Ryan, Kathleen A., Bartz, Traci M., Rudan, Igor, Faraday, Nauder, Linneberg, Allan, Ekunwe, Lynette, Davies, Gail, Delgado, Graciela E., Suchon, Pierre, Guo, Xiuqing, Rosendaal, Frits R., Klaric, Lucija, Noordam, Raymond, van Rooij, Frank, Curran, Joanne E., Wheeler, Marsha M., van der Harst, Pim, Trans-Omics for Precision Medicine (TOPMed) program, and the INVENT consortium
Published: 2024

14. Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

Author: Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Brain, Werren, Elizabeth A, Peirent, Emily R, Jantti, Henna, Guxholli, Alba, Srivastava, Kinshuk Raj, Orenstein, Naama, Narayanan, Vinodh, Wiszniewski, Wojciech, Dawidziuk, Mateusz, Gawlinski, Pawel, Umair, Muhammad, Khan, Amjad, Khan, Shahid Niaz, Geneviève, David, Lehalle, Daphné, van Gassen, K L I, Giltay, Jacques C, Oegema, Renske, van Jaarsveld, Richard H, Rafiullah, Rafiullah, Rappold, Gudrun A, Rabin, Rachel, Pappas, John G, Wheeler, Marsha M, Bamshad, Michael J, Tsan, Yao-Chang, Johnson, Matthew B, Keegan, Catherine E, Srivastava, Anshika, Bielas, Stephanie L, Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Brain, Werren, Elizabeth A, Peirent, Emily R, Jantti, Henna, Guxholli, Alba, Srivastava, Kinshuk Raj, Orenstein, Naama, Narayanan, Vinodh, Wiszniewski, Wojciech, Dawidziuk, Mateusz, Gawlinski, Pawel, Umair, Muhammad, Khan, Amjad, Khan, Shahid Niaz, Geneviève, David, Lehalle, Daphné, van Gassen, K L I, Giltay, Jacques C, Oegema, Renske, van Jaarsveld, Richard H, Rafiullah, Rafiullah, Rappold, Gudrun A, Rabin, Rachel, Pappas, John G, Wheeler, Marsha M, Bamshad, Michael J, Tsan, Yao-Chang, Johnson, Matthew B, Keegan, Catherine E, Srivastava, Anshika, and Bielas, Stephanie L
Published: 2024

15. Coagulation factor VIII: Relationship to cardiovascular disease risk and whole genome sequence and epigenome‐wide analysis in African Americans

Author: Raffield, Laura M., Lu, Ake T., Szeto, Mindy D., Little, Amarise, Grinde, Kelsey E., Shaw, Jessica, Auer, Paul L., Cushman, Mary, Horvath, Steve, Irvin, Marguerite R., Lange, Ethan M., Lange, Leslie A., Nickerson, Deborah A., Thornton, Timothy A., Wilson, James G., Wheeler, Marsha M., Zakai, Neil A., and Reiner, Alex P.
Published: 2020
Full Text: View/download PDF

16. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

Author: Chong, Jessica X, Burrage, Lindsay C, Beck, Anita E, Marvin, Colby T, McMillin, Margaret J, Shively, Kathryn M, Harrell, Tanya M, Buckingham, Kati J, Bacino, Carlos A, Jain, Mahim, Alanay, Yasemin, Berry, Susan A, Carey, John C, Gibbs, Richard A, Lee, Brendan H, Krakow, Deborah, Shendure, Jay, Nickerson, Deborah A, Genomics, University of Washington Center for Mendelian, Bamshad, Michael J, Abecasis, Gonçalo R, Anderson, Peter, Blue, Elizabeth Marchani, Annable, Marcus, Browning, Brian L, Chen, Christina, Chin, Jennifer, Cooper, Gregory M, Davis, Colleen P, Frazar, Christopher, He, Zongxiao, Jain, Preti, Jarvik, Gail P, Jimenez, Guillaume, Johanson, Eric, Jun, Goo, Kircher, Martin, Kolar, Tom, Krauter, Stephanie A, Krumm, Niklas, Leal, Suzanne M, Luksic, Daniel, McGee, Sean, O’Reilly, Patrick, Paeper, Bryan, Patterson, Karynne, Perez, Marcos, Phillips, Sam W, Pijoan, Jessica, Poel, Christa, Reinier, Frederic, Robertson, Peggy D, Santos-Cortez, Regie, Shaffer, Tristan, Shephard, Cindy, Siegel, Deborah L, Smith, Joshua D, Staples, Jeffrey C, Tabor, Holly K, Tackett, Monica, Underwood, Jason G, Wegener, Marc, Wang, Gao, Wheeler, Marsha M, and Yi, Qian
Subjects: Biological Sciences, Genetics, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Clinical Research, Congenital Structural Anomalies, Rare Diseases, Pediatric, Arthrogryposis, Cytoskeletal Proteins, Exome, Genetic Predisposition to Disease, High-Throughput Nucleotide Sequencing, Humans, Mutation, Myosins, Osteogenesis, University of Washington Center for Mendelian Genomics, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract: Multiple pterygium syndrome (MPS) is a phenotypically and genetically heterogeneous group of rare Mendelian conditions characterized by multiple pterygia, scoliosis, and congenital contractures of the limbs. MPS typically segregates as an autosomal-recessive disorder, but rare instances of autosomal-dominant transmission have been reported. Whereas several mutations causing recessive MPS have been identified, the genetic basis of dominant MPS remains unknown. We identified four families affected by dominantly transmitted MPS characterized by pterygia, camptodactyly of the hands, vertebral fusions, and scoliosis. Exome sequencing identified predicted protein-altering mutations in embryonic myosin heavy chain (MYH3) in three families. MYH3 mutations underlie distal arthrogryposis types 1, 2A, and 2B, but all mutations reported to date occur in the head and neck domains. In contrast, two of the mutations found to cause MPS in this study occurred in the tail domain. The phenotypic overlap among persons with MPS, coupled with physical findings distinct from other conditions caused by mutations in MYH3, suggests that the developmental mechanism underlying MPS differs from that of other conditions and/or that certain functions of embryonic myosin might be perturbed by disruption of specific residues and/or domains. Moreover, the vertebral fusions in persons with MPS, coupled with evidence of MYH3 expression in bone, suggest that embryonic myosin plays a role in skeletal development.
Published: 2015

17. De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Author: Chong, Jessica X, McMillin, Margaret J, Shively, Kathryn M, Beck, Anita E, Marvin, Colby T, Armenteros, Jose R, Buckingham, Kati J, Nkinsi, Naomi T, Boyle, Evan A, Berry, Margaret N, Bocian, Maureen, Foulds, Nicola, Uzielli, Maria Luisa Giovannucci, Haldeman-Englert, Chad, Hennekam, Raoul CM, Kaplan, Paige, Kline, Antonie D, Mercer, Catherine L, Nowaczyk, Malgorzata JM, Wassink-Ruiter, Jolien S Klein, McPherson, Elizabeth W, Moreno, Regina A, Scheuerle, Angela E, Shashi, Vandana, Stevens, Cathy A, Carey, John C, Monteil, Arnaud, Lory, Philippe, Tabor, Holly K, Smith, Joshua D, Shendure, Jay, Nickerson, Deborah A, Genomics, University of Washington Center for Mendelian, Bamshad, Michael J, Abecasis, Gonçalo R, Anderson, Peter, Blue, Elizabeth Marchani, Annable, Marcus, Browning, Brian L, Chen, Christina, Chin, Jennifer, Cooper, Gregory M, Davis, Colleen P, Frazar, Christopher, Harrell, Tanya M, He, Zongxiao, Jain, Preti, Jarvik, Gail P, Jimenez, Guillaume, Johanson, Eric, Jun, Goo, Kircher, Martin, Kolar, Tom, Krauter, Stephanie A, Krumm, Niklas, Leal, Suzanne M, Luksic, Daniel, McGee, Sean, O’Reilly, Patrick, Paeper, Bryan, Patterson, Karynne, Perez, Marcos, Phillips, Sam W, Pijoan, Jessica, Poel, Christa, Reinier, Frederic, Robertson, Peggy D, Santos-Cortez, Regie, Shaffer, Tristan, Shephard, Cindy, Siegel, Deborah L, Staples, Jeffrey C, Tackett, Monica, Underwood, Jason G, Wegener, Marc, Wang, Gao, Wheeler, Marsha M, and Yi, Qian
Subjects: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Congenital Structural Anomalies, Pediatric, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Congenital, Arthrogryposis, Contracture, Craniofacial Dysostosis, Cytoskeletal Proteins, Exome, Extremities, Face, Female, Gene Frequency, High-Throughput Nucleotide Sequencing, Homozygote, Humans, Infant, Ion Channels, Male, Membrane Proteins, Muscle Hypotonia, Mutation, Missense, Sodium Channels, University of Washington Center for Mendelian Genomics, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract: Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant condition caused by mutations in MYH3 and characterized by multiple congenital contractures of the face and limbs and normal cognitive development. We identified a subset of five individuals who had been putatively diagnosed with "DA2A with severe neurological abnormalities" and for whom congenital contractures of the limbs and face, hypotonia, and global developmental delay had resulted in early death in three cases; this is a unique condition that we now refer to as CLIFAHDD syndrome. Exome sequencing identified missense mutations in the sodium leak channel, non-selective (NALCN) in four families affected by CLIFAHDD syndrome. We used molecular-inversion probes to screen for NALCN in a cohort of 202 distal arthrogryposis (DA)-affected individuals as well as concurrent exome sequencing of six other DA-affected individuals, thus revealing NALCN mutations in ten additional families with "atypical" forms of DA. All 14 mutations were missense variants predicted to alter amino acid residues in or near the S5 and S6 pore-forming segments of NALCN, highlighting the functional importance of these segments. In vitro functional studies demonstrated that NALCN alterations nearly abolished the expression of wild-type NALCN, suggesting that alterations that cause CLIFAHDD syndrome have a dominant-negative effect. In contrast, homozygosity for mutations in other regions of NALCN has been reported in three families affected by an autosomal-recessive condition characterized mainly by hypotonia and severe intellectual disability. Accordingly, mutations in NALCN can cause either a recessive or dominant condition characterized by varied though overlapping phenotypic features, perhaps based on the type of mutation and affected protein domain(s).
Published: 2015

18. Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts

Author: Wheeler, Marsha M., Lannert, Kerry W., Huston, Haley, Fletcher, Shelley N., Harris, Samantha, Teramura, Gayle, Maki, Helena J., Frazar, Chris, Underwood, Jason G., Shaffer, Tristan, Correa, Adolfo, Delaney, Meghan, Reiner, Alex P., Wilson, James G., Nickerson, Deborah A., and Johnsen, Jill M.
Published: 2019
Full Text: View/download PDF

19. Stargazer: a software tool for calling star alleles from next-generation sequencing data using CYP2D6 as a model

Author: Lee, Seung-been, Wheeler, Marsha M., Patterson, Karynne, McGee, Sean, Dalton, Rachel, Woodahl, Erica L., Gaedigk, Andrea, Thummel, Kenneth E., and Nickerson, Deborah A.
Published: 2019
Full Text: View/download PDF

20. MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Author: Bamshad, Michael J., Leal, Suzanne M., Nickerson, Deborah A., Anderson, Peter, Annable, Marcus, Blue, Elizabeth Marchani, Buckingham, Kati J., Chin, Jennifer, Chong, Jessica X., Cornejo, Rodolfo, Jr., Davis, Colleen P., Frazar, Christopher, He, Zongxiao, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Kolar, Tom, Krauter, Stephanie A., Luksic, Daniel, Marvin, Colby T., McGee, Sean, McGoldrick, Daniel J., Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Robertson, Peggy D., Santos-Cortez, Regie, Shankar, Aditi, Slattery, Krystal, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Tackett, Monica, Wang, Gao, Wegener, Marc, Weiss, Jeffrey M., Wernick, Riana I., Wheeler, Marsha M., Yi, Qian, Heimer, Gali, Kerätär, Juha M., Riley, Lisa G., Balasubramaniam, Shanti, Eyal, Eran, Pietikäinen, Laura P., Hiltunen, J. Kalervo, Marek-Yagel, Dina, Hamada, Jeffrey, Gregory, Allison, Rogers, Caleb, Hogarth, Penelope, Nance, Martha A., Shalva, Nechama, Veber, Alvit, Tzadok, Michal, Nissenkorn, Andreea, Tonduti, Davide, Renaldo, Florence, Kraoua, Ichraf, Panteghini, Celeste, Valletta, Lorella, Garavaglia, Barbara, Cowley, Mark J., Gayevskiy, Velimir, Roscioli, Tony, Silberstein, Jonathon M., Hoffmann, Chen, Raas-Rothschild, Annick, Tiranti, Valeria, Anikster, Yair, Christodoulou, John, Kastaniotis, Alexander J., Ben-Zeev, Bruria, and Hayflick, Susan J.
Published: 2016
Full Text: View/download PDF

21. An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family

Author: Guo, Dong‐chuan, primary, Duan, Xueyan, additional, Mimnagh, Kathleen, additional, Cecchi, Alana C., additional, Marin, Isabella C., additional, Yu, Yang, additional, Torres, Walter V., additional, Lee, Kwanghyuk, additional, Zhu, Xue, additional, Murdock, David R., additional, Leal, Suzanne M., additional, Wheeler, Marsha M., additional, Smith, Josh, additional, Bamshad, Michael J., additional, and Milewicz, Dianna M., additional
Published: 2023
Full Text: View/download PDF

22. Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting

Author: Esterhuizen, Alina I., primary, Tiffin, Nicki, additional, Riordan, Gillian, additional, Wessels, Marie, additional, Burman, Richard J., additional, Aziz, Miriam C., additional, Calhoun, Jeffrey D., additional, Gunti, Jonathan, additional, Amiri, Ezra E., additional, Ramamurthy, Aishwarya, additional, Bamshad, Michael J., additional, Mefford, Heather C., additional, Ramesar, Raj, additional, Wilmshurst, Jo M., additional, Carvill, Gemma L., additional, Leal, Suzanne M., additional, Nickerson, Deborah A., additional, Anderson, Peter, additional, Bacus, Tamara J., additional, Blue, Elizabeth E., additional, Brower, Katherine, additional, Buckingham, Kati J., additional, Chong, Jessica X., additional, Cornejo Sánchez, Diana, additional, Davis, Colleen P., additional, Davis, Chayna J., additional, Frazar, Christian D., additional, Gomeztagle-Burgess, Katherine, additional, Gordon, William W., additional, Horike-Pyne, Martha, additional, Hurless, Jameson R., additional, Jarvik, Gail P., additional, Johanson, Eric, additional, Thomas Kolar, J., additional, Marvin, Colby T., additional, McGee, Sean, additional, McGoldrick, Daniel J., additional, Mekonnen, Betselote, additional, Nielsen, Patrick M., additional, Patterson, Karynne, additional, Radhakrishnan, Aparna, additional, Richardson, Matthew A., additional, Roote, Gwendolin T., additional, Ryke, Erica L., additional, Schrauwen, Isabelle, additional, Shively, Kathryn M., additional, Smith, Joshua D., additional, Tackett, Monica, additional, Wang, Gao, additional, Weiss, Jeffrey M., additional, Wheeler, Marsha M., additional, Yi, Qian, additional, and Zhang, Xiaohong, additional
Published: 2023
Full Text: View/download PDF

23. The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

Author: Venner, Eric, primary, Patterson, Karynne, additional, Kalra, Divya, additional, Wheeler, Marsha M., additional, Chen, Yi-Ju, additional, Kalla, Sara E., additional, Yuan, Bo, additional, Karnes, Jason H., additional, Lee, Breanna, additional, Walker, Kimberly, additional, Smith, Josh, additional, Mcgee, Sean, additional, Radhakrishnan, Aparna, additional, Haddad, Andrew, additional, Wang, Qiaoyan, additional, Jarvik, Gail, additional, Toledo, Diana, additional, Musick, Anjene, additional, and Gibbs, Richard A., additional
Published: 2022
Full Text: View/download PDF

24. Long-Read Sequencing Resolves Complex Structural Variants and Identifies Missing Disease-Causing Variants in Unsolved Cases of Hemophilia

Author: Miller, Danny E., primary, Galey, Miranda, additional, Fletcher, Shelley N, additional, Lannert, Kerry, additional, Wheeler, Marsha M, additional, Kandhaya-Pillai, Renuka, additional, Oshima, Junko, additional, Konkle, Barbara A., additional, Eichler, Evan E, additional, and Johnsen, Jill M., additional
Published: 2022
Full Text: View/download PDF

25. The role of genomics in transfusion medicine

Author: Wheeler, Marsha M. and Johnsen, Jill M.
Published: 2018
Full Text: View/download PDF

26. Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program

Author: Wheeler, Marsha M., Stilp, Adrienne M., Rao, Shuquan, Halldórsson, Bjarni V., Beyter, Doruk, Wen, Jia, Mihkaylova, Anna V., McHugh, Caitlin P., Lane, John, Jiang, Min Zhi, Raffield, Laura M., Jun, Goo, Sedlazeck, Fritz J., Metcalf, Ginger, Yao, Yao, Bis, Joshua B., Chami, Nathalie, de Vries, Paul S., Desai, Pinkal, Floyd, James S., Gao, Yan, Kammers, Kai, Kim, Wonji, Moon, Jee Young, Ratan, Aakrosh, Yanek, Lisa R., Almasy, Laura, Becker, Lewis C., Blangero, John, Cho, Michael H., Curran, Joanne E., Fornage, Myriam, Kaplan, Robert C., Lewis, Joshua P., Loos, Ruth J.F., Mitchell, Braxton D., Morrison, Alanna C., Preuss, Michael, Psaty, Bruce M., Rich, Stephen S., Rotter, Jerome I., Tang, Hua, Tracy, Russell P., Boerwinkle, Eric, Abecasis, Goncalo R., Blackwell, Thomas W., Smith, Albert V., Johnson, Andrew D., Mathias, Rasika A., Nickerson, Deborah A., Conomos, Matthew P., Li, Yun, Þorsteinsdóttir, Unnur, Magnússon, Magnús K., Stefansson, Kari, Pankratz, Nathan D., Bauer, Daniel E., Auer, Paul L., Reiner, Alex P., Wheeler, Marsha M., Stilp, Adrienne M., Rao, Shuquan, Halldórsson, Bjarni V., Beyter, Doruk, Wen, Jia, Mihkaylova, Anna V., McHugh, Caitlin P., Lane, John, Jiang, Min Zhi, Raffield, Laura M., Jun, Goo, Sedlazeck, Fritz J., Metcalf, Ginger, Yao, Yao, Bis, Joshua B., Chami, Nathalie, de Vries, Paul S., Desai, Pinkal, Floyd, James S., Gao, Yan, Kammers, Kai, Kim, Wonji, Moon, Jee Young, Ratan, Aakrosh, Yanek, Lisa R., Almasy, Laura, Becker, Lewis C., Blangero, John, Cho, Michael H., Curran, Joanne E., Fornage, Myriam, Kaplan, Robert C., Lewis, Joshua P., Loos, Ruth J.F., Mitchell, Braxton D., Morrison, Alanna C., Preuss, Michael, Psaty, Bruce M., Rich, Stephen S., Rotter, Jerome I., Tang, Hua, Tracy, Russell P., Boerwinkle, Eric, Abecasis, Goncalo R., Blackwell, Thomas W., Smith, Albert V., Johnson, Andrew D., Mathias, Rasika A., Nickerson, Deborah A., Conomos, Matthew P., Li, Yun, Þorsteinsdóttir, Unnur, Magnússon, Magnús K., Stefansson, Kari, Pankratz, Nathan D., Bauer, Daniel E., Auer, Paul L., and Reiner, Alex P.
Abstract: Genome-wide association studies have identified thousands of single nucleotide variants and small indels that contribute to variation in hematologic traits. While structural variants are known to cause rare blood or hematopoietic disorders, the genome-wide contribution of structural variants to quantitative blood cell trait variation is unknown. Here we utilized whole genome sequencing data in ancestrally diverse participants of the NHLBI Trans Omics for Precision Medicine program (N = 50,675) to detect structural variants associated with hematologic traits. Using single variant tests, we assessed the association of common and rare structural variants with red cell-, white cell-, and platelet-related quantitative traits and observed 21 independent signals (12 common and 9 rare) reaching genome-wide significance. The majority of these associations (N = 18) replicated in independent datasets. In genome-editing experiments, we provide evidence that a deletion associated with lower monocyte counts leads to disruption of an S1PR3 monocyte enhancer and decreased S1PR3 expression.
Published: 2022

27. TOP-LD:A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data

Author: Huang, Le, Rosen, Jonathan D., Sun, Quan, Chen, Jiawen, Wheeler, Marsha M., Zhou, Ying, Min, Yuan I., Kooperberg, Charles, Conomos, Matthew P., Stilp, Adrienne M., Rich, Stephen S., Rotter, Jerome I., Manichaikul, Ani, Loos, Ruth J.F., Kenny, Eimear E., Blackwell, Thomas W., Smith, Albert V., Jun, Goo, Sedlazeck, Fritz J., Metcalf, Ginger, Boerwinkle, Eric, Raffield, Laura M., Reiner, Alex P., Auer, Paul L., Li, Yun, Huang, Le, Rosen, Jonathan D., Sun, Quan, Chen, Jiawen, Wheeler, Marsha M., Zhou, Ying, Min, Yuan I., Kooperberg, Charles, Conomos, Matthew P., Stilp, Adrienne M., Rich, Stephen S., Rotter, Jerome I., Manichaikul, Ani, Loos, Ruth J.F., Kenny, Eimear E., Blackwell, Thomas W., Smith, Albert V., Jun, Goo, Sedlazeck, Fritz J., Metcalf, Ginger, Boerwinkle, Eric, Raffield, Laura M., Reiner, Alex P., Auer, Paul L., and Li, Yun
Abstract: Current publicly available tools that allow rapid exploration of linkage disequilibrium (LD) between markers (e.g., HaploReg and LDlink) are based on whole-genome sequence (WGS) data from 2,504 individuals in the 1000 Genomes Project. Here, we present TOP-LD, an online tool to explore LD inferred with high-coverage (∼30×) WGS data from 15,578 individuals in the NHLBI Trans-Omics for Precision Medicine (TOPMed) program. TOP-LD provides a significant upgrade compared to current LD tools, as the TOPMed WGS data provide a more comprehensive representation of genetic variation than the 1000 Genomes data, particularly for rare variants and in the specific populations that we analyzed. For example, TOP-LD encompasses LD information for 150.3, 62.2, and 36.7 million variants for European, African, and East Asian ancestral samples, respectively, offering 2.6- to 9.1-fold increase in variant coverage compared to HaploReg 4.0 or LDlink. In addition, TOP-LD includes tens of thousands of structural variants (SVs). We demonstrate the value of TOP-LD in fine-mapping at the GGT1 locus associated with gamma glutamyltransferase in the African ancestry participants in UK Biobank. Beyond fine-mapping, TOP-LD can facilitate a wide range of applications that are based on summary statistics and estimates of LD. TOP-LD is freely available online.
Published: 2022

28. New meta-analysis tools reveal common transcriptional regulatory basis for multiple determinants of behavior

Author: Ament, Seth A., Blatti, Charles A., Alaux, Cedric, Wheeler, Marsha M., Toth, Amy L., Le Conte, Yves, Hunt, Greg J., Guzmán-Novoa, Ernesto, DeGrandi-Hoffman, Gloria, Uribe-Rubio, Jose Luis, Amdam, Gro V., Page,, Robert E., Rodriguez-Zas, Sandra L., Robinson, Gene E., and Sinha, Saurabh
Published: 2012

29. Centers for Mendelian Genomics: A decade of facilitating gene discovery

Author: Baxter, Samantha M., primary, Posey, Jennifer E., additional, Lake, Nicole J., additional, Sobreira, Nara, additional, Chong, Jessica X., additional, Buyske, Steven, additional, Blue, Elizabeth E., additional, Chadwick, Lisa H., additional, Coban-Akdemir, Zeynep H., additional, Doheny, Kimberly F., additional, Davis, Colleen P., additional, Lek, Monkol, additional, Wellington, Christopher, additional, Jhangiani, Shalini N., additional, Gerstein, Mark, additional, Gibbs, Richard A., additional, Lifton, Richard P., additional, MacArthur, Daniel G., additional, Matise, Tara C., additional, Lupski, James R., additional, Valle, David, additional, Bamshad, Michael J., additional, Hamosh, Ada, additional, Mane, Shrikant, additional, Nickerson, Deborah A., additional, Rehm, Heidi L., additional, O’Donnell-Luria, Anne, additional, Adams, Marcia, additional, Aguet, François, additional, Akay, Gulsen, additional, Anderson, Peter, additional, Antonescu, Corina, additional, Arachchi, Harindra M., additional, Atik, Mehmed M., additional, Austin-Tse, Christina A., additional, Babb, Larry, additional, Bacus, Tamara J., additional, Bahrambeigi, Vahid, additional, Balasubramanian, Suganthi, additional, Bayram, Yavuz, additional, Beaudet, Arthur L., additional, Beck, Christine R., additional, Belmont, John W., additional, Below, Jennifer E., additional, Bilguvar, Kaya, additional, Boehm, Corinne D., additional, Boerwinkle, Eric, additional, Boone, Philip M., additional, Bowne, Sara J., additional, Brand, Harrison, additional, Buckingham, Kati J., additional, Byrne, Alicia B., additional, Calame, Daniel, additional, Campbell, Ian M., additional, Cao, Xiaolong, additional, Carvalho, Claudia, additional, Chander, Varuna, additional, Chang, Jaime, additional, Chao, Katherine R., additional, Chinn, Ivan K., additional, Clarke, Declan, additional, Collins, Ryan L., additional, Cummings, Beryl, additional, Dardas, Zain, additional, Dawood, Moez, additional, Delano, Kayla, additional, DiTroia, Stephanie P., additional, Doddapaneni, Harshavardhan, additional, Du, Haowei, additional, Du, Renqian, additional, Duan, Ruizhi, additional, Eldomery, Mohammad, additional, Eng, Christine M., additional, England, Eleina, additional, Evangelista, Emily, additional, Everett, Selin, additional, Fatih, Jawid, additional, Felsenfeld, Adam, additional, Francioli, Laurent C., additional, Frazar, Christian D., additional, Fu, Jack, additional, Gamarra, Emmanuel, additional, Gambin, Tomasz, additional, Gan, Weiniu, additional, Gandhi, Mira, additional, Ganesh, Vijay S., additional, Garimella, Kiran V., additional, Gauthier, Laura D., additional, Giroux, Danielle, additional, Gonzaga-Jauregui, Claudia, additional, Goodrich, Julia K., additional, Gordon, William W., additional, Griffith, Sean, additional, Grochowski, Christopher M., additional, Gu, Shen, additional, Gudmundsson, Sanna, additional, Hall, Stacey J., additional, Hansen, Adam, additional, Harel, Tamar, additional, Harmanci, Arif O., additional, Herman, Isabella, additional, Hetrick, Kurt, additional, Hijazi, Hadia, additional, Horike-Pyne, Martha, additional, Hsu, Elvin, additional, Hu, Jianhong, additional, Huang, Yongqing, additional, Hurless, Jameson R., additional, Jahl, Steve, additional, Jarvik, Gail P., additional, Jiang, Yunyun, additional, Johanson, Eric, additional, Jolly, Angad, additional, Karaca, Ender, additional, Khayat, Michael, additional, Knight, James, additional, Kolar, J. Thomas, additional, Kumar, Sushant, additional, Lalani, Seema, additional, Laricchia, Kristen M., additional, Larkin, Kathryn E., additional, Leal, Suzanne M., additional, Lemire, Gabrielle, additional, Lewis, Richard A., additional, Li, He, additional, Ling, Hua, additional, Lipson, Rachel B., additional, Liu, Pengfei, additional, Lovgren, Alysia Kern, additional, López-Giráldez, Francesc, additional, MacMillan, Melissa P., additional, Mangilog, Brian E., additional, Mano, Stacy, additional, Marafi, Dana, additional, Marosy, Beth, additional, Marshall, Jamie L., additional, Martin, Renan, additional, Marvin, Colby T., additional, Mawhinney, Michelle, additional, McGee, Sean, additional, McGoldrick, Daniel J., additional, Mehaffey, Michelle, additional, Mekonnen, Betselote, additional, Meng, Xiaolu, additional, Mitani, Tadahiro, additional, Miyake, Christina Y., additional, Mohr, David, additional, Morris, Shaine, additional, Mullen, Thomas E., additional, Murdock, David R., additional, Murugan, Mullai, additional, Muzny, Donna M., additional, Myers, Ben, additional, Neira, Juanita, additional, Nguyen, Kevin K., additional, Nielsen, Patrick M., additional, Nudelman, Natalie, additional, O’Heir, Emily, additional, O’Leary, Melanie C., additional, Ongaco, Chrissie, additional, Orange, Jordan, additional, Osei-Owusu, Ikeoluwa A., additional, Paine, Ingrid S., additional, Pais, Lynn S., additional, Paschall, Justin, additional, Patterson, Karynne, additional, Pehlivan, Davut, additional, Pelle, Benjamin, additional, Penney, Samantha, additional, Perez de Acha Chavez, Jorge, additional, Pierce-Hoffman, Emma, additional, Poli, Cecilia M., additional, Punetha, Jaya, additional, Radhakrishnan, Aparna, additional, Richardson, Matthew A., additional, Rodrigues, Eliete, additional, Roote, Gwendolin T., additional, Rosenfeld, Jill A., additional, Ryke, Erica L., additional, Sabo, Aniko, additional, Sanchez, Alice, additional, Schrauwen, Isabelle, additional, Scott, Daryl A., additional, Sedlazeck, Fritz, additional, Serrano, Jillian, additional, Shaw, Chad A., additional, Shelford, Tameka, additional, Shively, Kathryn M., additional, Singer-Berk, Moriel, additional, Smith, Joshua D., additional, Snow, Hana, additional, Snyder, Grace, additional, Solomonson, Matthew, additional, Son, Rachel G., additional, Song, Xiaofei, additional, Stankiewicz, Pawel, additional, Stephan, Taylorlyn, additional, Sutton, V. Reid, additional, Sveden, Abigail, additional, Sánchez, Diana Cornejo, additional, Tackett, Monica, additional, Talkowski, Michael, additional, Threlkeld, Machiko S., additional, Tiao, Grace, additional, Udler, Miriam S., additional, Vail, Laura, additional, Valivullah, Zaheer, additional, Valkanas, Elise, additional, VanNoy, Grace E., additional, Wang, Qingbo S., additional, Wang, Gao, additional, Wang, Lu, additional, Wangler, Michael F., additional, Watts, Nicholas A., additional, Weisburd, Ben, additional, Weiss, Jeffrey M., additional, Wheeler, Marsha M., additional, White, Janson J., additional, Williamson, Clara E., additional, Wilson, Michael W., additional, Wiszniewski, Wojciech, additional, Withers, Marjorie A., additional, Witmer, Dane, additional, Witzgall, Lauren, additional, Wohler, Elizabeth, additional, Wojcik, Monica H., additional, Wong, Isaac, additional, Wood, Jordan C., additional, Wu, Nan, additional, Xing, Jinchuan, additional, Yang, Yaping, additional, Yi, Qian, additional, Yuan, Bo, additional, Zeiger, Jordan E., additional, Zhang, Chaofan, additional, Zhang, Peng, additional, Zhang, Yan, additional, Zhang, Xiaohong, additional, Zhang, Yeting, additional, Zhang, Shifa, additional, Zoghbi, Huda, additional, and van den Veyver, Igna, additional
Published: 2022
Full Text: View/download PDF

30. Clonal hematopoiesis is driven by aberrant activation of TCL1A

Author: Weinstock, Joshua S., primary, Gopakumar, Jayakrishnan, additional, Burugula, Bala Bharathi, additional, Uddin, Md Mesbah, additional, Jahn, Nikolaus, additional, Belk, Julia A., additional, Daniel, Bence, additional, Ly, Nghi, additional, Mack, Taralyn M., additional, Laurie, Cecelia A., additional, Broome, Jai G., additional, Taylor, Kent D., additional, Guo, Xiuqing, additional, Sinner, Moritz F., additional, von Falkenhausen, Aenne S., additional, Kääb, Stefan, additional, Shuldiner, Alan R., additional, O’Connell, Jeffrey R., additional, Lewis, Joshua P., additional, Boerwinkle, Eric, additional, Barnes, Kathleen C., additional, Chami, Nathalie, additional, Kenny, Eimear E., additional, Loos, Ruth J., additional, Fornage, Myriam, additional, Hou, Lifang, additional, Lloyd-Jones, Donald M., additional, Redline, Susan, additional, Cade, Brian E., additional, Psaty, Bruce M., additional, Bis, Joshua C., additional, Brody, Jennifer A., additional, Silverman, Edwin K., additional, Yun, Jeong H., additional, Qiao, Dandi, additional, Palmer, Nicholette D., additional, Freedman, Barry I., additional, Bowden, Donald W., additional, Cho, Michael H., additional, DeMeo, Dawn L., additional, Vasan, Ramachandran S., additional, Yanek, Lisa R., additional, Becker, Lewis C., additional, Kardia, Sharon, additional, Peyser, Patricia A., additional, He, Jiang, additional, Rienstra, Michiel, additional, Harst, Pim Van der, additional, Kaplan, Robert, additional, Heckbert, Susan R., additional, Smith, Nicholas L., additional, Wiggins, Kerri L., additional, Arnett, Donna K., additional, Irvin, Marguerite R., additional, Tiwari, Hemant, additional, Cutler, Michael J., additional, Knight, Stacey, additional, Muhlestein, J Brent., additional, Correa, Adolfo, additional, Raffield, Laura M., additional, Gao, Yan, additional, Andrade, Mariza de, additional, Rotter, Jerome I., additional, Rich, Stephen S., additional, Tracy, Russell P., additional, Konkle, Barbara A., additional, Johnsen, Jill M., additional, Wheeler, Marsha M., additional, Smith, J. Gustav, additional, Melander, Olle, additional, Nilsson, Peter M., additional, Custer, Brian S., additional, Duggirala, Ravindranath, additional, Curran, Joanne E., additional, Blangero, John, additional, McGarvey, Stephen, additional, Williams, L. Keoki, additional, Xiao, Shujie, additional, Yang, Mao, additional, Gu, C. Charles., additional, Chen, Yii-Der Ida., additional, Lee, Wen-Jane, additional, Marcus, Gregory M., additional, Kane, John P., additional, Pullinger, Clive R., additional, Shoemaker, M. Benjamin, additional, Darbar, Dawood, additional, Roden, Dan, additional, Albert, Christine, additional, Kooperberg, Charles, additional, Zhou, Ying, additional, Manson, JoAnn E., additional, Desai, Pinkal, additional, Johnson, Andrew, additional, Mathias, Rasika, additional, Blackwell, Thomas W., additional, Abecasis, Goncalo R., additional, Smith, Albert V., additional, Kang, Hyun M., additional, Satpathy, Ansuman T., additional, Natarajan, Pradeep, additional, Kitzman, Jacob, additional, Whitsel, Eric, additional, Reiner, Alexander P., additional, Bick, Alexander G., additional, and Jaiswal, Sidd, additional
Published: 2021
Full Text: View/download PDF

31. RNA interference in the termite Reticulitermes flavipes through ingestion of double-stranded RNA

Author: Zhou, Xuguo, Wheeler, Marsha M., Oi, Faith M., and Scharf, Michael E.
Published: 2008
Full Text: View/download PDF

32. Inhibition of termite cellulases by carbohydrate-based cellulase inhibitors: Evidence from in vitro biochemistry and in vivo feeding studies

Author: Zhou, Xuguo, Wheeler, Marsha M., Oi, Faith M., and Scharf, Michael E.
Published: 2008
Full Text: View/download PDF

33. Germline SAMD9L truncation variants trigger global translational repression

Author: Allenspach, Eric J., primary, Soveg, Frank, additional, Finn, Laura S., additional, So, Lomon, additional, Gorman, Jacquelyn A., additional, Rosen, Aaron B.I., additional, Skoda-Smith, Suzanne, additional, Wheeler, Marsha M., additional, Barrow, Kaitlyn A., additional, Rich, Lucille M., additional, Debley, Jason S., additional, Bamshad, Michael J., additional, Nickerson, Deborah A., additional, Savan, Ram, additional, Torgerson, Troy R., additional, and Rawlings, David J., additional
Published: 2021
Full Text: View/download PDF

34. A Multi-Omics Approach to X-Chromosome Inactivation (XCI) Identifies Severe Xci Skewing in Female Genetic Carriers of Hemophilia

Author: Wheeler, Marsha M, primary, Sheldon, Kathryn, additional, Fletcher, Shelley N, additional, Dove, Angela, additional, Lannert, Kerry W, additional, Frazar, Chris, additional, Konkle, Barbara A., additional, Nickerson, Deborah A, additional, and Johnsen, Jill M, additional
Published: 2020
Full Text: View/download PDF

35. Novel genetic determinants of telomere length from a multi-ethnic analysis of 75,000 whole genome sequences in TOPMed

Author: Taub, Margaret A, Weinstock, Joshua S, Iyer, Kruthika R, Yanek, Lisa R, Conomos, Matthew P, Brody, Jennifer A, Keramati, Ali, Laurie, Cecelia A, Arvanitis, Marios, Smith, Albert V, Lane, John, Becker, Lewis C, Bis, Joshua C, Blangero, John, Bleecker, Eugene R, Burchard, Esteban G, Celedon, Juan C, Chang, Yen Pei C, Custer, Brian, Darbar, Dawood, de las Fuentes, Lisa, DeMeo, Dawn L, Freedman, Barry I, Garrett, Melanie E, Gladwin, Mark T, Heckbert, Susan R, Hidalgo, Bertha A, Ingram, Christie, Irvin, Marguerite R, Craig Johnson, W, Kaab, Stefan, Launer, Lenore, Lee, Jiwon, Liu, Simin, Moscati, Arden, North, Kari E, Peyser, Patricia A, Rafaels, Nicholas, Raffield, Laura M, Weeks, Daniel E, Wheeler, Marsha M, Keoki Williams, L., Zhao, Wei, Armanios, Mary, Aslibekyan, Stella, Auer, Paul L, Bowden, Donald W, Cade, Brian E, Yii-Der Chen, Ida, Cho, Michael H, Cupples, L Adrienne, Curran, Joanne E, Daya, Michelle, Deka, Ranjan, Guo, Xiuqing, Hou, Lifang, Hwang, Shih-Jen, Johnsen, Jill M, Kenny, Eimear E, Levin, Albert M, Liu, Chunyu, Minster, Ryan L, Nouraie, Mehdi, Sabino, Ester C, Smith, Jennifer A, Smith, Nicholas L, Lasky Su, Jessica, Telen, Marilyn J, Tiwari, Hemant K, Tracy, Russell P, White, Marquitta J, Zhang, Yingze, Wiggins, Kerri L, Weiss, Scott T, Vasan, Ramachandran S, Taylor, Kent D, Sinner, Moritz F, Silverman, Edwin K, Benjamin Shoemaker, M., Sheu, Wayne H-H, Rotter, Jerome I, Redline, Susan, Psaty, Bruce M, Peralta, Juan M, Palmer, Nicholette D, Loos, Ruth JF, Montgomery, Courtney G, Mitchell, Braxton D, Meyers, Deborah A, McGarvey, Stephen T, Mak, Angel CY, Kumar, Rajesh, Kooperberg, Charles, Konkle, Barbara A, Kelly, Shannon, Kardia, Sharon LR, Kaplan, Robert, He, Jiang, Gui, Hongsheng, Fornage, Myriam, Ellinor, Patrick T, de Andrade, Mariza, Correa, Adolfo, Boerwinkle, Eric, Barnes, Kathleen C, Ashley-Koch, Allison E, Arnett, Donna K, Albert, Christine, Laurie, Cathy C, Abecasis, Goncalo, Aviv, Abraham, Nickerson, Deborah A, Wilson, James G, Rich, Stephen S, Levy, Daniel, Battle, Alexis, Blackwell, Thomas W, Ruczinski, Ingo, Thornton, Timothy, O’Connell, Jeff, Perry, James A, Pankratz, Nathan, Reiner, Alexander P, and Mathias, Rasika A
Abstract: Telomeres shorten in replicating somatic cells and with age; in human leukocytes, telomere length (TL) is associated with a host of aging-related diseases 1,2 . To date, 16 genome-wide association studies (GWAS) have identified twenty-three loci associated with leukocyte TL 3–18 , but prior studies were primarily in individuals of European and Asian ancestry and relied on laboratory assays including Southern Blot and qPCR to quantify TL. Here, we estimated TL bioinformatically, leveraging whole genome sequencing (WGS) of whole blood from n=75,176 subjects in the Trans-Omics for Precision Medicine (TOPMed) Program. We performed the largest multi-ethnic and only WGS-based genome-wide association analysis of TL to date. We identified 22 associated loci (p-value
Published: 2019
Full Text: View/download PDF

36. MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

Author: Dobyns, William B., Aldinger, Kimberly A., Ishak, Gisele E., Mirzaa, Ghayda M., Timms, Andrew E., Grout, Megan E., Dremmen, Marjolein H.G., Schot, Rachel, Vandervore, Laura, van Slegtenhorst, Marjon A., Wilke, Martina, Kasteleijn, Esmee, Lee, Arthur S., Barry, Brenda J., Chao, Katherine R., Szczałuba, Krzysztof, Kobori, Joyce, Hanson-Kahn, Andrea, Bernstein, Jonathan A., Carr, Lucinda, D’Arco, Felice, Miyana, Kaori, Okazaki, Tetsuya, Saito, Yoshiaki, Sasaki, Masayuki, Das, Soma, Wheeler, Marsha M., Bamshad, Michael J., Nickerson, Deborah A., Engle, Elizabeth C., Verheijen, Frans W., Doherty, Dan, and Mancini, Grazia M.S.
Published: 2018
Full Text: View/download PDF

37. Calling Star Alleles With Stargazer in 28 Pharmacogenes With Whole Genome Sequences

Author: Lee, Seung‐been, primary, Wheeler, Marsha M., additional, Thummel, Kenneth E., additional, and Nickerson, Deborah A., additional
Published: 2019
Full Text: View/download PDF

38. Parallel metatranscriptome analyses of host and symbiont gene expression in the gut of the termite Reticulitermes flavipes

Author: Zhou Xuguo, Wheeler Marsha M, Tartar Aurélien, Coy Monique R, Boucias Drion G, and Scharf Michael E
Subjects: Fuel, TP315-360, Biotechnology, TP248.13-248.65
Abstract: Abstract Background Termite lignocellulose digestion is achieved through a collaboration of host plus prokaryotic and eukaryotic symbionts. In the present work, we took a combined host and symbiont metatranscriptomic approach for investigating the digestive contributions of host and symbiont in the lower termite Reticulitermes flavipes. Our approach consisted of parallel high-throughput sequencing from (i) a host gut cDNA library and (ii) a hindgut symbiont cDNA library. Subsequently, we undertook functional analyses of newly identified phenoloxidases with potential importance as pretreatment enzymes in industrial lignocellulose processing. Results Over 10,000 expressed sequence tags (ESTs) were sequenced from the 2 libraries that aligned into 6,555 putative transcripts, including 171 putative lignocellulase genes. Sequence analyses provided insights in two areas. First, a non-overlapping complement of host and symbiont (prokaryotic plus protist) glycohydrolase gene families known to participate in cellulose, hemicellulose, alpha carbohydrate, and chitin degradation were identified. Of these, cellulases are contributed by host plus symbiont genomes, whereas hemicellulases are contributed exclusively by symbiont genomes. Second, a diverse complement of previously unknown genes that encode proteins with homology to lignase, antioxidant, and detoxification enzymes were identified exclusively from the host library (laccase, catalase, peroxidase, superoxide dismutase, carboxylesterase, cytochrome P450). Subsequently, functional analyses of phenoloxidase activity provided results that were strongly consistent with patterns of laccase gene expression. In particular, phenoloxidase activity and laccase gene expression are mostly restricted to symbiont-free foregut plus salivary gland tissues, and phenoloxidase activity is inducible by lignin feeding. Conclusion To our knowledge, this is the first time that a dual host-symbiont transcriptome sequencing effort has been conducted in a single termite species. This sequence database represents an important new genomic resource for use in further studies of collaborative host-symbiont termite digestion, as well as development of coevolved host and symbiont-derived biocatalysts for use in industrial biomass-to-bioethanol applications. Additionally, this study demonstrates that: (i) phenoloxidase activities are prominent in the R. flavipes gut and are not symbiont derived, (ii) expands the known number of host and symbiont glycosyl hydrolase families in Reticulitermes, and (iii) supports previous models of lignin degradation and host-symbiont collaboration in cellulose/hemicellulose digestion in the termite gut. All sequences in this paper are available publicly with the accession numbers FL634956-FL640828 (Termite Gut library) and FL641015-FL645753 (Symbiont library).
Published: 2009
Full Text: View/download PDF

39. Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program.

Author: Dinardo, Carla L., Oliveira, Theo G. M., Kelly, Shannon, Ashley‐Koch, Allison, Telen, Marilyn, Schmidt, Luciana C., Castilho, Shirley, Melo, Karla, Dezan, Marcia R., Wheeler, Marsha M., Johnsen, Jill M., Nickerson, Deborah A., Jain, Deepti, Custer, Brian, Pereira, Alexandre C., and Sabino, Ester C.
Subjects: SICKLE cell anemia, NUCLEOTIDE sequencing, ALLELES, PHENOTYPES, BLOOD transfusion
Abstract: Background: Genetic variants in the SLC14A1, ACKR1, and KEL genes, which encode Kidd, Duffy, and Kell red blood cell antigens, respectively, may result in weakened expression of antigens or a null phenotype. These variants are of particular interest to individuals with sickle cell disease (SCD), who frequently undergo chronic transfusion therapy with antigen‐matched units. The goal was to describe the diversity and the frequency of variants in SLC14A1, ACKR1, and KEL genes among individuals with SCD using whole genome sequencing (WGS) data. Study Design and Methods: Two large SCD cohorts were studied: the Recipient Epidemiology and Donor Evaluation Study III (REDS‐III) (n = 2634) and the Outcome Modifying Gene in SCD (OMG) (n = 640). Most of the studied individuals were of mixed origin. WGS was performed as part of the National Heart, Lung, and Blood Institute's Trans‐Omics for Precision Medicine (TOPMed) program. Results: In SLC14A1, variants included four encoding a weak Jka phenotype and five null alleles (JKnull). JKA*01N.09 was the most common JKnull. One possible JKnull mutation was novel: c.812G>T. In ACKR1, identified variants included two that predicted Fyx (FY*X) and one corresponding to the c.‐67T>C GATA mutation. The c.‐67T>C mutation was associated with FY*A (FY*01N.01) in four participants. FY*X was identified in 49 individuals. In KEL, identified variants included three null alleles (KEL*02N.17, KEL*02N.26, and KEL*02N.04) and one allele predicting Kmod phenotype, all in heterozygosity. Conclusions: We described the diversity and distribution of SLC14A1, ACKR1, and KEL variants in two large SCD cohorts, comprising mostly individuals of mixed ancestry. This information may be useful for planning the transfusion support of patients with SCD. [ABSTRACT FROM AUTHOR]
Published: 2021
Full Text: View/download PDF

40. Novel Structural Variants Originating in F8 Non-Coding Regions in Previously Unresolved Cases of Severe Hemophilia A

Author: Wheeler, Marsha M, primary, Konkle, Barbara A, additional, Watson, Crystal, additional, Pierce, Glenn F., additional, Nickerson, Deborah A, additional, and Johnsen, Jill M, additional
Published: 2018
Full Text: View/download PDF

41. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

Author: Bamshad, Michael J., Shendure, Jay, Nickerson, Deborah A., Abecasis, Gonçalo R., Anderson, Peter, Blue, Elizabeth Marchani, Annable, Marcus, Browning, Brian L., Buckingham, Kati J., Chen, Christina, Chin, Jennifer, Chong, Jessica X., Cooper, Gregory M., Davis, Colleen P., Frazar, Christopher, Harrell, Tanya M., He, Zongxiao, Jain, Preti, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Jun, Goo, Kircher, Martin, Kolar, Tom, Krauter, Stephanie A., Krumm, Niklas, Leal, Suzanne M., Luksic, Daniel, Marvin, Colby T., McMillin, Margaret J., McGee, Sean, O’Reilly, Patrick, Paeper, Bryan, Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Poel, Christa, Reinier, Frederic, Robertson, Peggy D., Santos-Cortez, Regie, Shaffer, Tristan, Shephard, Cindy, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Staples, Jeffrey C., Tabor, Holly K., Tackett, Monica, Underwood, Jason G., Wegener, Marc, Wang, Gao, Wheeler, Marsha M., Yi, Qian, Burrage, Lindsay C., Beck, Anita E., Bacino, Carlos A., Jain, Mahim, Alanay, Yasemin, Berry, Susan A., Carey, John C., Gibbs, Richard A., Lee, Brendan H., and Krakow, Deborah
Published: 2015
Full Text: View/download PDF

42. De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Author: Bamshad, Michael J., Shendure, Jay, Nickerson, Deborah A., Abecasis, Gonçalo R., Anderson, Peter, Blue, Elizabeth Marchani, Annable, Marcus, Browning, Brian L., Buckingham, Kati J., Chen, Christina, Chin, Jennifer, Chong, Jessica X., Cooper, Gregory M., Davis, Colleen P., Frazar, Christopher, Harrell, Tanya M., He, Zongxiao, Jain, Preti, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Jun, Goo, Kircher, Martin, Kolar, Tom, Krauter, Stephanie A., Krumm, Niklas, Leal, Suzanne M., Luksic, Daniel, Marvin, Colby T., McMillin, Margaret J., McGee, Sean, O’Reilly, Patrick, Paeper, Bryan, Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Poel, Christa, Reinier, Frederic, Robertson, Peggy D., Santos-Cortez, Regie, Shaffer, Tristan, Shephard, Cindy, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Staples, Jeffrey C., Tabor, Holly K., Tackett, Monica, Underwood, Jason G., Wegener, Marc, Wang, Gao, Wheeler, Marsha M., Yi, Qian, Beck, Anita E., Armenteros, Jose R., Nkinsi, Naomi T., Boyle, Evan A., Berry, Margaret N., Bocian, Maureen, Foulds, Nicola, Uzielli, Maria Luisa Giovannucci, Haldeman-Englert, Chad, Hennekam, Raoul C.M., Kaplan, Paige, Kline, Antonie D., Mercer, Catherine L., Nowaczyk, Malgorzata J.M., Klein Wassink-Ruiter, Jolien S., McPherson, Elizabeth W., Moreno, Regina A., Scheuerle, Angela E., Shashi, Vandana, Stevens, Cathy A., Carey, John C., Monteil, Arnaud, and Lory, Philippe
Published: 2015
Full Text: View/download PDF

43. Whole genome sequence association with E-selectin levels reveals loss-of-function variant in African Americans.

Author: Polfus, Linda M, Raffield, Laura M, Wheeler, Marsha M, Tracy, Russell P, Lange, Leslie A, Lettre, Guillaume, Miller, Amanda, Correa, Adolfo, Bowler, Russell P, Bis, Joshua C, Salimi, Shabnam, Jenny, Nancy Swords, Pankratz, Nathan, Wang, Biqi, Preuss, Michael H, Zhou, Lisheng, Moscati, Arden, Nadkarni, Girish N, Loos, Ruth J F, and Zhong, Xue
Published: 2019
Full Text: View/download PDF

44. A genetic-association study of circulating coagulation factor VIII and von Willebrand factor levels

Author: de Vries, Paul S., Reventun, Paula, Brown, Michael R., Heath, Adam S., Huffman, Jennifer E., Le, Ngoc-Quynh, Bebo, Allison, Brody, Jennifer A., Temprano-Sagrera, Gerard, Raffield, Laura M., Ozel, Ayse Bilge, Thibord, Florian, Jain, Deepti, Lewis, Joshua P., Rodriguez, Benjmain A. T., Pankratz, Nathan, Taylor, Kent D., Polasek, Ozren, Chen, Ming-Huei, Yanek, Lisa R., Carrasquilla, German D., Marioni, Riccardo E., Kleber, Marcus E., Trégouët, David-Alexandre, Yao, Jie, Li-Gao, Ruifang, Joshi, Peter K., Trompet, Stella, Martinez-Perez, Angel, Ghanbari, Mohsen, Howard, Tom E., Reiner, Alex P., Arvanitis, Marios, Ryan, Kathleen A., Bartz, Traci M., Rudan, Igor, Faraday, Nauder, Linneberg, Allan, Ekunwe, Lynette, Davies, Gail, Delgado, Graciela E., Suchon, Pierre, Guo, Xiuqing, Rosendaal, Frits R., Klaric, Lucija, Noordam, Raymond, van Rooij, Frank, Curran, Joanne E., Wheeler, Marsha M., Osburn, William O., O'Connell, Jeffrey R., Boerwinkle, Eric, Beswick, Andrew, Psaty, Bruce M., Kolcic, Ivana, Souto, Juan Carlos, Becker, Lewis C., Hansen, Torben, Doyle, Margaret F., Harris, Sarah E., Moissl, Angela P., Deleuze, Jean-François, Rich, Stephen S., van Hylckama Vlieg, Astrid, Campbell, Harry, Stott, David J., Soria, Jose Manuel, de Maat, Moniek P. M., Almasy, Laura, Brody, Lawrence C., Auer, Paul L., Abe, Namiko, Abecasis, Gonçalo, Aguet, Francois, Albert, Christine, Almasy, Laura, Alonso, Alvaro, Ament, Seth, Anderson, Peter, Anugu, Pramod, Applebaum-Bowden, Deborah, Ardlie, Kristin, Arking, Dan, Arnett, Donna K, Ashley-Koch, Allison, Aslibekyan, Stella, Assimes, Tim, Auer, Paul, Avramopoulos, Dimitrios, Ayas, Najib, Balasubramanian, Adithya, Barnard, John, Barnes, Kathleen, Barr, R. Graham, Barron-Casella, Emily, Barwick, Lucas, Beaty, Terri, Beck, Gerald, Becker, Diane, Becker, Lewis, Beer, Rebecca, Beitelshees, Amber, Benjamin, Emelia, Benos, Takis, Bezerra, Marcos, Bielak, Larry, Bis, Joshua, Blackwell, Thomas, Blangero, John, Blue, Nathan, Boerwinkle, Eric, Bowden, Donald W., Bowler, Russell, Brody, Jennifer, Broeckel, Ulrich, Broome, Jai, Brown, Deborah, Bunting, Karen, Burchard, Esteban, Bustamante, Carlos, Buth, Erin, Cade, Brian, Cardwell, Jonathan, Carey, Vincent, Carrier, Julie, Carson, April P., Carty, Cara, Casaburi, Richard, Casas Romero, Juan P, Casella, James, Castaldi, Peter, Chaffin, Mark, Chang, Christy, Chang, Yi-Cheng, Chasman, Daniel, Chavan, Sameer, Chen, Bo-Juen, Chen, Wei-Min, Ida Chen, Yii-Der, Cho, Michael, Choi, Seung Hoan, Chuang, Lee-Ming, Chung, Mina, Chung, Ren-Hua, Clish, Clary, Comhair, Suzy, Conomos, Matthew, Cornell, Elaine, Correa, Adolfo, Crandall, Carolyn, Crapo, James, Cupples, L. Adrienne, Curran, Joanne, Curtis, Jeffrey, Custer, Brian, Damcott, Coleen, Darbar, Dawood, David, Sean, Davis, Colleen, Daya, Michelle, de Andrade, Mariza, de las Fuentes, Lisa, de Vries, Paul, DeBaun, Michael, Deka, Ranjan, DeMeo, Dawn, Devine, Scott, Dinh, Huyen, Doddapaneni, Harsha, Duan, Qing, Dugan-Perez, Shannon, Duggirala, Ravi, Durda, Jon Peter, Dutcher, Susan K., Eaton, Charles, Ekunwe, Lynette, El Boueiz, Adel, Ellinor, Patrick, Emery, Leslie, Erzurum, Serpil, Farber, Charles, Farek, Jesse, Fingerlin, Tasha, Flickinger, Matthew, Fornage, Myriam, Franceschini, Nora, Frazar, Chris, Fu, Mao, Fullerton, Stephanie M., Fulton, Lucinda, Gabriel, Stacey, Gan, Weiniu, Gao, Shanshan, Gao, Yan, Gass, Margery, Geiger, Heather, Gelb, Bruce, Geraci, Mark, Germer, Soren, Gerszten, Robert, Ghosh, Auyon, Gibbs, Richard, Gignoux, Chris, Gladwin, Mark, Glahn, David, Gogarten, Stephanie, Gong, Da-Wei, Goring, Harald, Graw, Sharon, Gray, Kathryn J., Grine, Daniel, Gross, Colin, Gu, C. Charles, Guan, Yue, Guo, Xiuqing, Gupta, Namrata, Haessler, Jeff, Hall, Michael, Han, Yi, Hanly, Patrick, Harris, Daniel, Hawley, Nicola L., He, Jiang, Heavner, Ben, Heckbert, Susan, Hernandez, Ryan, Herrington, David, Hersh, Craig, Hidalgo, Bertha, Hixson, James, Hobbs, Brian, Hokanson, John, Hong, Elliott, Hoth, Karin, Hsiung, Chao (Agnes), Hu, Jianhong, Hung, Yi-Jen, Huston, Haley, Hwu, Chii Min, Irvin, Marguerite Ryan, Jackson, Rebecca, Jain, Deepti, Jaquish, Cashell, Johnsen, Jill, Johnson, Andrew, Johnson, Craig, Johnston, Rich, Jones, Kimberly, Kang, Hyun Min, Kaplan, Robert, Kardia, Sharon, Kelly, Shannon, Kenny, Eimear, Kessler, Michael, Khan, Alyna, Khan, Ziad, Kim, Wonji, Kimoff, John, Kinney, Greg, Konkle, Barbara, Kooperberg, Charles, Kramer, Holly, Lange, Christoph, Lange, Ethan, Lange, Leslie, Laurie, Cathy, Laurie, Cecelia, LeBoff, Meryl, Lee, Jiwon, Lee, Sandra, Lee, Wen-Jane, LeFaive, Jonathon, Levine, David, Levy, Dan, Lewis, Joshua, Li, Xiaohui, Li, Yun, Lin, Henry, Lin, Honghuang, Lin, Xihong, Liu, Simin, Liu, Yongmei, Liu, Yu, Loos, Ruth J. F., Lubitz, Steven, Lunetta, Kathryn, Luo, James, Magalang, Ulysses, Mahaney, Michael, Make, Barry, Manichaikul, Ani, Manning, Alisa, Manson, JoAnn, Martin, Lisa, Marton, Melissa, Mathai, Susan, Mathias, Rasika, May, Susanne, McArdle, Patrick, McDonald, Merry-Lynn, McFarland, Sean, McGarvey, Stephen, McGoldrick, Daniel, McHugh, Caitlin, McNeil, Becky, Mei, Hao, Meigs, James, Menon, Vipin, Mestroni, Luisa, Metcalf, Ginger, Meyers, Deborah A, Mignot, Emmanuel, Mikulla, Julie, Min, Nancy, Minear, Mollie, Minster, Ryan L, Mitchell, Braxton D., Moll, Matt, Momin, Zeineen, Montasser, May E., Montgomery, Courtney, Muzny, Donna, Mychaleckyj, Josyf C, Nadkarni, Girish, Naik, Rakhi, Naseri, Take, Natarajan, Pradeep, Nekhai, Sergei, Nelson, Sarah C., Neltner, Bonnie, Nessner, Caitlin, Nickerson, Deborah, Nkechinyere, Osuji, North, Kari, O'Connell, Jeff, O'Connor, Tim, Ochs-Balcom, Heather, Okwuonu, Geoffrey, Pack, Allan, Paik, David T., Palmer, Nicholette, Pankow, James, Papanicolaou, George, Parker, Cora, Peloso, Gina, Peralta, Juan Manuel, Perez, Marco, Perry, James, Peters, Ulrike, Peyser, Patricia, Phillips, Lawrence S, Pleiness, Jacob, Pollin, Toni, Post, Wendy, Becker, Julia Powers, Boorgula, Meher Preethi, Preuss, Michael, Psaty, Bruce, Qasba, Pankaj, Qiao, Dandi, Qin, Zhaohui, Rafaels, Nicholas, Raffield, Laura, Rajendran, Mahitha, Ramachandran, Vasan S., Rao, D. C., Rasmussen-Torvik, Laura, Ratan, Aakrosh, Redline, Susan, Reed, Robert, Reeves, Catherine, Regan, Elizabeth, Reiner, Alex, Reupena, Muagututi‘a Sefuiva, Rice, Ken, Rich, Stephen, Robillard, Rebecca, Robine, Nicolas, Roden, Dan, Roselli, Carolina, Rotter, Jerome, Ruczinski, Ingo, Runnels, Alexi, Russell, Pamela, Ruuska, Sarah, Ryan, Kathleen, Sabino, Ester Cerdeira, Saleheen, Danish, Salimi, Shabnam, Salvi, Sejal, Salzberg, Steven, Sandow, Kevin, Sankaran, Vijay G., Santibanez, Jireh, Schwander, Karen, Schwartz, David, Sciurba, Frank, Seidman, Christine, Seidman, Jonathan, Sériès, Frédéric, Sheehan, Vivien, Sherman, Stephanie L., Shetty, Amol, Shetty, Aniket, Hui-Heng Sheu, Wayne, Shoemaker, M. Benjamin, Silver, Brian, Silverman, Edwin, Skomro, Robert, Smith, Albert Vernon, Smith, Jennifer, Smith, Josh, Smith, Nicholas, Smith, Tanja, Smoller, Sylvia, Snively, Beverly, Snyder, Michael, Sofer, Tamar, Sotoodehnia, Nona, Stilp, Adrienne M., Storm, Garrett, Streeten, Elizabeth, Su, Jessica Lasky, Sung, Yun Ju, Sylvia, Jody, Szpiro, Adam, Taliun, Daniel, Tang, Hua, Taub, Margaret, Taylor, Kent D., Taylor, Matthew, Taylor, Simeon, Telen, Marilyn, Thornton, Timothy A., Threlkeld, Machiko, Tinker, Lesley, Tirschwell, David, Tishkoff, Sarah, Tiwari, Hemant, Tong, Catherine, Tracy, Russell, Tsai, Michael, Vaidya, Dhananjay, Van Den Berg, David, VandeHaar, Peter, Vrieze, Scott, Walker, Tarik, Wallace, Robert, Walts, Avram, Wang, Fei Fei, Wang, Heming, Wang, Jiongming, Watson, Karol, Watt, Jennifer, Weeks, Daniel E., Weinstock, Joshua, Weir, Bruce, Weiss, Scott T, Weng, Lu-Chen, Wessel, Jennifer, Willer, Cristen, Williams, Kayleen, Williams, L. Keoki, Wilson, Carla, Wilson, James, Winterkorn, Lara, Wong, Quenna, Wu, Joseph, Xu, Huichun, Yanek, Lisa, Yang, Ivana, Yu, Ketian, Zekavat, Seyedeh Maryam, Zhang, Yingze, Zhao, Snow Xueyan, Zhao, Wei, Zhu, Xiaofeng, Ziv, Elad, Zody, Michael, Zoellner, Sebastian, Lindstrom, Sara, Wang, Lu, Smith, Erin N., Gordon, William, van Hylckama Vlieg, Astrid, de Andrade, Mariza, Brody, Jennifer A., Pattee, Jack W., Haessler, Jeffrey, Brumpton, Ben M., Chasman, Daniel I., Suchon, Pierre, Chen, Ming-Huei, Turman, Constance, Germain, Marine, Wiggins, Kerri L., MacDonald, James, Braekkan, Sigrid K., Armasu, Sebastian M., Pankratz, Nathan, Jackson, Rabecca D., Nielsen, Jonas B., Giulianini, Franco, Puurunen, Marja K., Ibrahim, Manal, Heckbert, Susan R., Bammler, Theo K., Frazer, Kelly A., McCauley, Bryan M., Taylor, Kent, Pankow, James S., Reiner, Alexander P., Gabrielsen, Maiken E., Deleuze, Jean-François, O'Donnell, Chris J., Kim, Jihye, McKnight, Barbara, Kraft, Peter, Hansen, John-Bjarne, Rosendaal, Frits R., Heit, John A., Psaty, Bruce M., Tang, Weihong, Kooperberg, Charles, Hveem, Kristian, Ridker, Paul M., Morange, Pierre-Emmanuel, Johnson, Andrew D., Kabrhel, Christopher, AlexandreTrégouët, David, Smith, Nicholas L., Mitchell, Braxton D., Ben-Shlomo, Yoav, Fornage, Myriam, Hayward, Caroline, Mathias, Rasika A., Kilpeläinen, Tuomas O., Lange, Leslie A., Cox, Simon R., März, Winfried, Morange, Pierre-Emmanuel, Rotter, Jerome I., Mook-Kanamori, Dennis O., Wilson, James F., van der Harst, Pim, Jukema, J. Wouter, Ikram, M. Arfan, Blangero, John, Kooperberg, Charles, Desch, Karl C., Johnson, Andrew D., Sabater-Lleal, Maria, Lowenstein, Charles J., Smith, Nicholas L., and Morrison, Alanna C.
Abstract: •We identified 7 new genetic regions for factor VIII levels, 1 for von Willebrand factor levels, and 3 in a combined analysis.•Silencing B3GNT2and CD36reduced factor VIII release in vitro.Silencing B3GNT2, CD36, and PDIA3reduced von Willebrand factor release.
Published: 2024
Full Text: View/download PDF

45. MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Author: Heimer, Gali, primary, Kerätär, Juha M., additional, Riley, Lisa G., additional, Balasubramaniam, Shanti, additional, Eyal, Eran, additional, Pietikäinen, Laura P., additional, Hiltunen, J. Kalervo, additional, Marek-Yagel, Dina, additional, Hamada, Jeffrey, additional, Gregory, Allison, additional, Rogers, Caleb, additional, Hogarth, Penelope, additional, Nance, Martha A., additional, Shalva, Nechama, additional, Veber, Alvit, additional, Tzadok, Michal, additional, Nissenkorn, Andreea, additional, Tonduti, Davide, additional, Renaldo, Florence, additional, Kraoua, Ichraf, additional, Panteghini, Celeste, additional, Valletta, Lorella, additional, Garavaglia, Barbara, additional, Cowley, Mark J., additional, Gayevskiy, Velimir, additional, Roscioli, Tony, additional, Silberstein, Jonathon M., additional, Hoffmann, Chen, additional, Raas-Rothschild, Annick, additional, Tiranti, Valeria, additional, Anikster, Yair, additional, Christodoulou, John, additional, Kastaniotis, Alexander J., additional, Ben-Zeev, Bruria, additional, Hayflick, Susan J., additional, Bamshad, Michael J., additional, Leal, Suzanne M., additional, Nickerson, Deborah A., additional, Anderson, Peter, additional, Annable, Marcus, additional, Blue, Elizabeth Marchani, additional, Buckingham, Kati J., additional, Chin, Jennifer, additional, Chong, Jessica X., additional, Cornejo, Rodolfo, additional, Davis, Colleen P., additional, Frazar, Christopher, additional, He, Zongxiao, additional, Jarvik, Gail P., additional, Jimenez, Guillaume, additional, Johanson, Eric, additional, Kolar, Tom, additional, Krauter, Stephanie A., additional, Luksic, Daniel, additional, Marvin, Colby T., additional, McGee, Sean, additional, McGoldrick, Daniel J., additional, Patterson, Karynne, additional, Perez, Marcos, additional, Phillips, Sam W., additional, Pijoan, Jessica, additional, Robertson, Peggy D., additional, Santos-Cortez, Regie, additional, Shankar, Aditi, additional, Slattery, Krystal, additional, Shively, Kathryn M., additional, Siegel, Deborah L., additional, Smith, Joshua D., additional, Tackett, Monica, additional, Wang, Gao, additional, Wegener, Marc, additional, Weiss, Jeffrey M., additional, Wernick, Riana I., additional, Wheeler, Marsha M., additional, and Yi, Qian, additional
Published: 2016
Full Text: View/download PDF

46. Diet and endocrine effects on behavioral maturation-related gene expression in the pars intercerebralis of the honey bee brain

Author: Wheeler, Marsha M., primary, Ament, Seth A., additional, Rodriguez-Zas, Sandra L., additional, Southey, Bruce, additional, and Robinson, Gene E., additional
Published: 2015
Full Text: View/download PDF

47. Activation of the IGF1 Pathway Mediates Changes in Cellular Contractility and Motility in Single-Suture Craniosynostosis

Author: Al-Rekabi, Zeinab, primary, Wheeler, Marsha M., additional, Leonard, Andrea, additional, Fura, Adriane M., additional, Juhlin, Ilsa, additional, Frazar, Christopher, additional, Smith, Joshua D., additional, Park, Sarah S., additional, Gustafson, Jennifer A., additional, Clarke, Christine M., additional, Cunningham, Michael L., additional, and Sniadecki, Nathan J., additional
Published: 2015
Full Text: View/download PDF

48. Next Generation DNA Sequencing of the RH Locus in 1135 Donors Implicates RHCE-RHD(2)-RHCE Hybrid Alleles As Causative of C+ Antigen

Author: Wheeler, Marsha M, Lannert, Kerry W, Huston, Haley, Fletcher, Shelley N, Harris, Samantha, Teramura, Gayle, Frazar, Chris, Underwood, Jason G, Schaffer, Tristan, Delaney, Meghan, Nickerson, Deborah A, and Johnsen, Jill M
Published: 2017
Full Text: View/download PDF

49. Diet-dependent gene expression in honey bees: honey vs. sucrose or high fructose corn syrup

Author: Wheeler, Marsha M., primary and Robinson, Gene E., additional
Published: 2014
Full Text: View/download PDF

50. Activation of the IGF1 pathway mediates changes in cellular contractility and motility in single-suture craniosynostosis.

Author: Al-Rekabi, Zeinab, Wheeler, Marsha M., Leonard, Andrea, Fura, Adriane M., Juhlin, Ilsa, Frazar, Christopher, Smith, Joshua D., Park, Sarah S., Gustafson, Jennifer A., Clarke, Christine M., Cunningham, Michael L., and Sniadecki, Nathan J.
Subjects: *CRANIOSYNOSTOSES, *CONTRACTILITY (Biology), *CELL contraction, *GENE expression, *BIOMARKERS
Abstract: Insulin growth factor 1 (IGF1) is amajor anabolic signal that is essential during skeletal development, cellular adhesion and migration. Recent transcriptomic studies have shown that there is an upregulation in IGF1 expression in calvarial osteoblasts derived from patients with singlesuture craniosynostosis (SSC). Upregulation of the IGF1 signaling pathway is knownto induce increased expression of a set of osteogenic markers that previously have been shown to be correlated with contractility and migration. Although the IGF1 signaling pathway has been implicated in SSC, a correlation between IGF1, contractility and migration has not yet been investigated. Here, we examined the effect of IGF1 activation in inducing cellular contractility and migration in SSCosteoblasts usingmicropost arrays and time-lapsemicroscopy. We observed that the contractile forces and migration speeds of SSC osteoblasts correlated with IGF1 expression. Moreover, both contractility and migration of SSC osteoblasts were directly affected by the interaction of IGF1 with IGF1 receptor (IGF1R). Our results suggest that IGF1 activity can provide valuable insight for phenotype-genotype correlation in SSC osteoblasts and might provide a target for therapeutic intervention. [ABSTRACT FROM AUTHOR]
Published: 2016
Full Text: View/download PDF

Catalog

Books, media, physical & digital resources

See catalog results

Searchworks

Select search scope, currently: Articles Catalog books, media & more in Jio Institute collections Articles journal articles & other e-resources

Search

Search Constraints

Refine your results

Search Limiters

Topic

Publication Year Range

Language

Publication Type

Journal

Region

Database

Publisher

155 results on '"Wheeler, Marsha M."'

Search Results

Catalog

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources