Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

by Taliun, Daniel, Kessler, Michael D, Carlson, Jedidiah, Taliun, Sarah A Gagliano, Kang, Hyun Min, Tian, Xiaowen, Browning, Brian L, Clarke, Wayne E, Loesch, Douglas P, Shetty, Amol C, Blackwell, Thomas W, Smith, Albert V, Liu, Xiaoming, Conomos, Matthew P, Bobo, Dean M, Aguet, François, Arking, Dan E, Aslibekyan, Stella, Auer, Paul L, Barnard, John, Barr, R Graham, Barwick, Lucas, Becker, Lewis C, Bielak, Lawrence F, Bowden, Donald W, Brody, Jennifer A, Burchard, Esteban G, Cade, Brian E, Chasman, Daniel I, Chen, Yii-Der Ida, Choi, Seung Hoan, Chung, Mina K, Correa, Adolfo, Curran, Joanne E, Custer, Brian, Daya, Michelle, DeMeo, Dawn L, Ellinor, Patrick T, Eng, Celeste, Fingerlin, Tasha, Forer, Lukas, Fullerton, Stephanie M, Germer, Soren, Gottlieb, Daniel J, Guo, Xiuqing, He, Jiang, Heckbert, Susan R, Kelly, Tanika, Kelly, Shannon, Kenny, Eimear E, Klemmer, Robert, Konkle, Barbara A, Kooperberg, Charles, Köttgen, Anna, Lasky-Su, Jessica, Levy, Daniel, Lin, Xihong, Liu, Chunyu, Lubitz, Steven A, Mak, Angel C Y, Manichaikul, Ani, Manning, Alisa K, Mathias, Rasika A, McManus, David D, Meigs, James B, Meyers, Deborah A, Montasser, May E, Montgomery, Courtney, Morrison, Alanna C, Murabito, Joanne M, Nelson, Sarah C, North, Kari E, Peloso, Gina M, Peyser, Patricia A, Post, Wendy S, Rao, D C, Redline, Susan, Roden, Dan, Sarnowski, Chloé, Schwartz, David A, Sheehan, Vivien A, Smith, Nicholas L, Smith, Jennifer A, Sotoodehnia, Nona, Tang, Weihong, Taylor, Kent D, Telen, Marilyn, Tracy, Russell P, Vasan, Ramachandran S, Viaud-Martinez, Karine A, Vrieze, Scott, Weeks, Daniel E, Weiss, Scott T, Gan, Weiniu, Nickerson, Deborah A, Browning, Sharon R, Wilson, James G, Laurie, Cathy C, Hernandez, Ryan D, Abecasis, Gonçalo R
Published in Nature (London)

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

by Bick, Alexander G, Nandakumar, Satish K, Fulco, Charles P, Zekavat, Seyedeh M, Szeto, Mindy D, Leventhal, Matthew J, Nasser, Joseph, Chang, Kyle, Gibson, Christopher J, Lin, Amy E, Taub, Margaret A, Barnes, Kathleen C, Moscati, Arden, Psaty, Bruce M, Silverman, Edwin K, Weiss, Scott T, Palmer, Nicholette D, Vasan, Ramachandran S, Burchard, Esteban G, He, Jiang, Kaplan, Robert C, Smith, Nicholas L, Arnett, Donna K, Schwartz, David A, Correa, Adolfo, Guo, Xiuqing, 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, Kenny, Eimear E, North, Kari E, Launer, Lenore J, Bis, Joshua C, Lasky-Su, Jessica, Bowden, Donald W, Cupples, L Adrienne, Becker, Lewis C, Smith, Jennifer A, Kelly, Tanika N, Aslibekyan, Stella, Heckbert, Susan R, Tiwari, Hemant K, Yang, Ivana V, Heit, John A, Johnsen, Jill M, Curran, Joanne E, Wenzel, Sally E, Weeks, Daniel E, Darbar, Dawood, Moon, Jee-Young, Tracy, Russell P, Buth, Erin J, Rafaels, Nicholas, Loos, Ruth J F, Durda, Peter, Liu, Yongmei, Hou, Lifang, Kachroo, Priyadarshini, Freedman, Barry I, Levy, Daniel, Bielak, Lawrence F, Whitsel, Eric A, Ellinor, Patrick T, Fingerlin, Tasha E, Raffield, Laura M, Armasu, Sebastian M, Wheeler, Marsha M, Blangero, John, Levy, Bruce D, Sheu, Wayne Huey-Herng, Roden, Dan M, Boerwinkle, Eric, Manson, JoAnn E, Taylor, Kent D, Johnson, Andrew D, Auer, Paul L, Kooperberg, Charles, Laurie, Cathy C, Smith, Albert V, Zhao, Hongyu, Lange, Ethan, Rotter, Jerome I, Wilson, James G, Kitzman, Jacob O, Lander, Eric S, Engreitz, Jesse M, Ebert, Benjamin L, Reiner, Alexander P, Abecasis, Gonçalo, Sankaran, Vijay G, Kathiresan, Sekar
Published in Nature (London)

Genomic data in the All of Us Research Program

by Basford, Melissa, Boerwinkle, Eric, Cicek, Mine S, Eichler, Evan E, Gabriel, Stacey, Gibbs, Richard A, Glazer, David, Harris, Paul A, Jarvik, Gail P, Philippakis, Anthony, Roden, Dan M, Thibodeau, Stephen N, Topper, Scott, Biegen, Ashley L, Wirkus, Samantha J, Wagner, Victoria A, Meyer, Jeffrey G, Thibodeau, Stephen, Muzny, Donna M, Metcalf, Ginger A, Venner, Eric, Mawhinney, Michelle Z, Griffith, Sean M L, Hsu, Elvin, Ling, Hua, Adams, Marcia K, Walker, Kimberly, Hu, Jianhong, Doddapaneni, Harsha, Kovar, Christie L, Dugan, Shannon, Khan, Ziad, Lennon, Niall J, Austin-Tse, Christina, Banks, Eric, Gatzen, Michael, Gupta, Namrata, Henricks, Emma, McDonough, Shell, Harrison, Steven M, Lebo, Matthew S, Neben, Cynthia L, Steeves, Marcie, Zhou, Alicia Y, Smith, Joshua D, Frazar, Christian D, Davis, Colleen P, Patterson, Karynne E, Wheeler, Marsha M, McGee, Sean, Lockwood, Christina M, Shirts, Brian H, Murray, Mitzi L, Vasta, Valeria, Leistritz, Dru, Richardson, Matthew A, Buchan, Jillian G, Radhakrishnan, Aparna, Krumm, Niklas, Ehmen, Brenna W, Schwartz, Sophie, Aster, M Morgan T, Cibulskis, Kristian, Haessly, Andrea, Asch, Rebecca, Cremer, Aurora, Degatano, Kylee, Lee, Samuel K, Hatcher, Aaron, Grant, George B, Brandt, Genevieve R, Covarrubias, Miguel, Bick, Alexander G, Able, Ashley, Mayo, Kelsey R, Green, Ashley E, Carroll, Robert J, Linder, Jodell E, Zhang, Jennifer, Condon, Henry R, Wang, Yuanyuan, Rura, Shimon, Dillon, Moira K, Albach, C H, Baalawi, Wail, Choi, Seung Hoan, Wang, Xin, Rosenthal, Elisabeth A, Jordan, King, Sharma, Shivam, Meller, Robert, Ramirez, Andrea H, Lim, Sokny, Nambiar, Siddhartha, Musick, Anjene, Ozenberger, Bradley, Wise, Anastasia L, Lunt, Chris, Ginsburg, Geoffrey S, Denny, Joshua C
Published in Nature (London)

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

by 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, Bamshad, Michael J., 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, Mefford, Heather C., Ramesar, Raj, Wilmshurst, Jo M., Carvill, Gemma L.
Published in Genetics in medicine

Mutation of ATF6 causes autosomal recessive achromatopsia

by Ansar, Muhammad, Santos-Cortez, Regie Lyn P., Saqib, Muhammad Arif Nadeem, Zulfiqar, Fareeha, Lee, Kwanghyuk, Ashraf, Naeem Mahmood, Ullah, Ehsan, Wang, Xin, Sajid, Sundus, Khan, Falak Sher, Amin-ud-Din, Muhammad, Smith, Joshua D., Shendure, Jay, Bamshad, Michael J., Nickerson, Deborah A., Hameed, Abdul, Riazuddin, Saima, Ahmed, Zubair M., Ahmad, Wasim, Leal, Suzanne M.
Published in Human genetics

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance

by Liaqat, Khurram, Schrauwen, Isabelle, Raza, Syed Irfan, Lee, Kwanghyuk, Hussain, Shabir, Chakchouk, Imen, Nasir, Abdul, Acharya, Anushree, Abbe, Izoduwa, Umair, Muhammad, Ansar, Muhammad, Ullah, Irfan, Shah, Khadim, Bamshad, Michael J, Nickerson, Deborah A, Ahmad, Wasim, Leal, Suzanne M
Published in Journal of human genetics

Expression profiling using microarrays fabricated by an ink-jet oligonucleotide synthesizer

by Linsley, Peter S, Hughes, Timothy R, Mao, Mao, Jones, Allan R, Burchard, Julja, Marton, Matthew J, Shannon, Karen W, Lefkowitz, Steven M, Ziman, Michael, Schelter, Janell M, Meyer, Michael R, Kobayashi, Sumire, Davis, Colleen, Dai, Hongyue, He, Yudong D, Stephaniants, Sergey B, Cavet, Guy, Walker, Wynn L, West, Anne, Coffey, Ernest, Shoemaker, Daniel D, Stoughton, Roland, Blanchard, Alan P, Friend, Stephen H
Published in Nature biotechnology

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

by Schrauwen, Isabelle, Chakchouk, Imen, Acharya, Anushree, Liaqat, Khurram, Irfanullah, Nickerson, Deborah A, Bamshad, Michael J, Shah, Khadim, Ahmad, Wasim, Leal, Suzanne M
Published in BMC medical genetics

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

by Rehman, Atteeq U, Santos-Cortez, Regie Lyn P, Drummond, Meghan C, Shahzad, Mohsin, Lee, Kwanghyuk, Morell, Robert J, Ansar, Muhammad, Jan, Abid, Wang, Xin, Aziz, Abdul, Riazuddin, Saima, Smith, Joshua D, Wang, Gao T, Ahmed, Zubair M, Gul, Khitab, Shearer, A Eliot, Smith, Richard J H, Shendure, Jay, Bamshad, Michael J, Nickerson, Deborah A, Hinnant, John, Khan, Shaheen N, Fisher, Rachel A, Ahmad, Wasim, Friderici, Karen H, Riazuddin, Sheikh, Friedman, Thomas B, Wilch, Ellen S, Leal, Suzanne M
Published in European journal of human genetics : EJHG

Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

by Ansar, Muhammad, Jan, Abid, Santos-Cortez, Regie Lyn P, Wang, Xin, Suliman, Muhammad, Acharya, Anushree, Habib, Rabia, Abbe, Izoduwa, Ali, Ghazanfar, Lee, Kwanghyuk, Smith, Joshua D, Nickerson, Deborah A, Shendure, Jay, Bamshad, Michael J, Ahmad, Wasim, Leal, Suzanne M
Published in European journal of human genetics : EJHG

NeuroSCORE is a genome-wide omics-based model that identifies candidate disease genes of the central nervous system

by Davis, Kyle W, Bilancia, Colleen G, Martin, Megan, Vanzo, Rena, Rimmasch, Megan, Hom, Yolanda, Uddin, Mohammed, Serrano, Moises A
Published in Scientific reports

Study protocol of a randomized controlled trial to assess the efficacy of the "PrEPare for Work" intervention to enhance PrEP uptake and optimize adherence for HIV prevention among...

by Biello, Katie B, Chan, Philip A, Ndoye, Colleen D, Nelson, Lance, Nelson, Elizabeth, Silva, Vanessa, Kwak, Eun, Napoleon, Siena, Cormack Orellana, Carolina, Richards, Olly G, Davis, Evan, Mimiaga, Matthew J
Published in BMC public health

Enhanced recovery after surgery (ERAS) program for lumbar spine fusion

by Smith, Justin, Probst, Stephen, Calandra, Colleen, Davis, Raphael, Sugimoto, Kentaro, Nie, Lizhou, Gan, Tong J, Bennett-Guerrero, Elliott
Published in Perioperative medicine (London)

A user-centred implementation strategy for tuberculosis contact investigation in Uganda: protocol for a stepped-wedge, cluster-randomised trial

by Katamba, Achilles, Gupta, Amanda J, Turimumahoro, Patricia, Ochom, Emmanuel, Ggita, Joseph M, Nakasendwa, Suzan, Nanziri, Leah, Musinguzi, Johnson, Hennein, Rachel, Sekadde, Moorine, Hanrahan, Colleen, Byaruhanga, Raymond, Yoeli, Erez, Turyahabwe, Stavia, Cattamanchi, Adithya, Dowdy, David W, Haberer, Jessica E, Armstrong-Hough, Mari, Kiwanuka, Noah, Davis, J Lucian
Published in BMC public health

A Syngeneic ErbB2 Mammary Cancer Model for Preclinical Immunotherapy Trials

by Pénzváltó, Zsófia, Chen, Jane Qian, Tepper, Clifford G., Davis, Ryan R., Silvestrini, Matthew T., Umeh-Garcia, Maxine, Sweeney, Colleen, Borowsky, Alexander D.
Published in Journal of mammary gland biology and neoplasia

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

by Bone, William P., Washington, Nicole L., Buske, Orion J., Adams, David R., Davis, Joie, Draper, David, Flynn, Elise D., Girdea, Marta, Godfrey, Rena, Golas, Gretchen, Groden, Catherine, Jacobsen, Julius, Köhler, Sebastian, Lee, Elizabeth M.J., Links, Amanda E., Markello, Thomas C., Mungall, Christopher J., Nehrebecky, Michele, Robinson, Peter N., Sincan, Murat, Soldatos, Ariane G., Tifft, Cynthia J., Toro, Camilo, Trang, Heather, Valkanas, Elise, Vasilevsky, Nicole, Wahl, Colleen, Wolfe, Lynne A., Boerkoel, Cornelius F., Brudno, Michael, Haendel, Melissa A., Gahl, William A., Smedley, Damian
Published in Genetics in medicine

A Review of the Maternal and Child Health APHA Policy Statements, 1970-2019

by Payton, Colleen, Mishkin, Kathryn, Davis, Cee Ann, Katzburg, Judith, Walker, Deborah Klein
Published in Maternal and child health journal

Convergence of artificial intelligence and high performance computing on NSF-supported cyberinfrastructure

by Huerta, E. A., Khan, Asad, Davis, Edward, Bushell, Colleen, Gropp, William D., Katz, Daniel S., Kindratenko, Volodymyr, Koric, Seid, Kramer, William T. C., McGinty, Brendan, McHenry, Kenton, Saxton, Aaron
Published in Journal of big data

Metabolomic and BH3 profiling of esophageal cancers: novel assessment methods for precision therapy

by Taylor Ripley, R, Surman, Deborah R, Diggs, Laurence P, Trepel, Jane B, Lee, Min-Jung, Ryan, Jeremy, Davis, Jeremy L, Steinberg, Seth M, Hernandez, Jonathan M, Hoang, Choung, Kenney, Cara M, Bond, Colleen D, Kunst, Tricia F, Letai, Anthony, Schrump, David S
Published in BMC gastroenterology

Adoptive T-cell therapy improves treatment of canine non-Hodgkin lymphoma post chemotherapy

by O'Connor, Colleen M, Sheppard, Sabina, Hartline, Cassie A, Huls, Helen, Johnson, Mark, Palla, Shana L, Maiti, Sourindra, Ma, Wencai, Davis, R Eric, Craig, Suzanne, Lee, Dean A, Champlin, Richard, Wilson, Heather, Cooper, Laurence J N
Published in Scientific reports