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Dach1 mutant mice bear no gross abnormalities in eye, limb, and brain development and exhibit postnatal lethality Davis, RJ; Shen, WP; Sandler, YI; Amoui, M; Purcell, P; Maas, R; Ou, CN; Vogel, H; Beaudet, AL; Mardon, G Share Save
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Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome Lee, Dongwon; Chen, Wu; Kaku, Heet Naresh; Zhuo, Xinming; Chao, Eugene S.; Soriano, Armand; Kuncheria, Allen; Flores, Stephanie; Kim, Joo Hyun; Rivera, Armando; Rigo, Frank; Jafar-nejad, Paymaan; Beaudet, Arthur L.; Caudill, Matthew S.; Xue, Mingshan Share Save
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Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy Spielmann, Nadine; Miller, Gregor; Oprea, Tudor I.; Hsu, Chih-Wei; Fobo, Gisela; Frishman, Goar; Montrone, Corinna; Haseli Mashhadi, Hamed; Mason, Jeremy; Munoz Fuentes, Violeta; Leuchtenberger, Stefanie; Ruepp, Andreas; Wagner, Matias; Westphal, Dominik S.; Wolf, Cordula; Goerlach, Agnes; Sanz-Moreno, Adrian; Cho, Yi-Li; Teperino, Raffaele; Brandmaier, Stefan; Sharma, Sapna; Galter, Isabella Rikarda; Oestereicher, Manuela A.; Zapf, Lilly; Mayer-Kuckuk, Philipp; Rozman, Jan; Teboul, Lydia; Bunton-Stasyshyn, Rosie K. A.; Cater, Heather; Stewart, Michelle; Christou, Skevoulla; Westerberg, Henrik; Willett, Amelia M.; Wotton, Janine M.; Roper, Willson B.; Christiansen, Audrey E.; Ward, Christopher S.; Heaney, Jason D.; Reynolds, Corey L.; Prochazka, Jan; Bower, Lynette; Clary, David; Selloum, Mohammed; Bou About, Ghina; Wendling, Olivia; Jacobs, Hugues; Leblanc, Sophie; Meziane, Hamid; Sorg, Tania; Audain, Enrique; Gilly, Arthur; Rayner, Nigel W.; Aguilar-Pimentel, Juan A.; Becker, Lore; Garrett, Lillian; Hoelter, Sabine M.; Amarie, Oana V.; Calzada-Wack, Julia; Klein-Rodewald, Tanja; da Silva-Buttkus, Patricia; Lengger, Christoph; Stoeger, Claudia; Gerlini, Raffaele; Rathkolb, Birgit; Mayr, Daniela; Seavitt, John; Gaspero, Angelina; Green, Jennie R.; Garza, Arturo; Bohat, Ritu; Wong, Leeyean; Mcelwee, Melissa L.; Kalaga, Sowmya; Rasmussen, Tara L.; Lorenzo, Isabel; Lanza, Denise G.; Samaco, Rodney C.; Veeraragaven, Surabi; Gallegos, Juan J.; Kasparek, Petr; Petrezselyova, Silvia; King, Ruairidh; Johnson, Sara; Cleak, James; Szkoe-Kovacs, Zsombor; Codner, Gemma; Mackenzie, Matthew; Caulder, Adam; Kenyon, Janet; Gardiner, Wendy; Phelps, Hayley; Hancock, Rhys; Norris, Claire; Moore, Michayla A.; Seluke, Audrie M.; Urban, Rachel; Kane, Coleen; Goodwin, Leslie O.; Peterson, Kevin A.; Mckay, Matthew; Cook, Jenn J.; Lowy, Jacob P.; Mcfarland, Michael; Wood, Joshua A.; Willis, Brandon J.; Tolentino, Heather; Tolentino, Todd; Schuchbauer, Michael; Salazar, Jason; Johnson, Jennifer; Munson, Rebecca; Ayadi, Abdel; Pavlovic, Guillaume; Birling, Marie-Christine; Jacquot, Sylvie; Ali-Hadji, Dalila; Charles, Philippe; Andre, Philippe; Champy, Marie-France; Riet, Fabrice; Vukobradovic, Igor; Berberovic, Zorana; Qu, Dawei; Guo, Ruolin; D'Souza, Abigail; Huang, Ziyue; Camilleri, Susan; Ganguly, Milan; Adissu, Hibret; Eskandarian, Mohammed; Shang, Xueyuan; Duffin, Kyle; Xu, Catherine; Roberton, Kyle; Laurin, Valerie; Lan, Qing; Sleep, Gillian; Creighton, Amie; Lintott, Lauri; Gertsenstein, Marina; Pereira, Monica; Tondat, Sandra; Patel, Amit; Cruz, Maribelle; Bezginov, Alex; Miller, David; Hy, Wang; Yoshiki, Atsushi; Tanaka, Nobuhiko; Tamura, Masaru; Liu, Zhiwei; Ermakova, Olga; Ferrara, Anna; Fruscoloni, Paolo; Seisenberger, Claudia; Buerger, Antje; Giesert, Florian; Ambrose, J. C.; Gam, Arumu P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C. R.; Brittain, H.; Caulfield, M. J.; Chan, G. C.; Fowler, T.; Giess, A.; Hamblin, A.; Henderson, S.; Hubbard, T. J. P.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Leigh, S. E. A.; Leong, I. U. S.; Lopez, F. J.; Maleady-Crowe, F.; Mcentagart, M.; Minneci, F.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A. C.; O'Donovan, P.; Odhams, C. A.; Patch, C.; Perez-Gil, D.; Pereira, M. B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smith, S. C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor-Tavares, A. L.; Thomas, E. R. A.; Thompson, S. R.; Tucci, A.; Welland, M. J.; Williams, E.; Witkowska, K.; Wood, S. M.; Hitz, Marc-Phillip; Zeggini, Eleftheria; Wolf, Eckhard; Sedlacek, Radislav; Murray, Steven A.; Svenson, Karen L.; Braun, Robert E.; White, Jaqueline K.; Kelsey, Lois; Gao, Xiang; Shiroishi, Toshihiko; Xu, Ying; Seong, Je Kyung; Mammano, Fabio; Tocchini-Valentini, Glauco P.; Beaudet, Arthur L.; Meehan, Terrence F.; Parkinson, Helen; Smedley, Damian; Mallon, Ann-Marie; Wells, Sara E.; Grallert, Harald; Wurst, Wolfgang; Marschall, Susan; Fuchs, Helmut; Brown, Steve D. M.; Flenniken, Ann M.; Nutter, Lauryl M. J.; Mckerlie, Colin; Herault, Yann; Lloyd, K. C. Kent; Dickinson, Mary E.; Gailus-Durner, Valerie; Hrabe de Angelis, Martin Share Save
A resource of targeted mutant mouse lines for 5,061 genes Birling, Marie-Christine; Yoshiki, Atsushi; Adams, David J.; Ayabe, Shinya; Beaudet, Arthur L.; Bottomley, Joanna; Bradley, Allan; Brown, Steve D. M.; Buerger, Antje; Bushell, Wendy; Chiani, Francesco; Chin, Hsian-Jean Genie; Christou, Skevoulla; Codner, Gemma F.; DeMayo, Francesco J.; Dickinson, Mary E.; Doe, Brendan; Donahue, Leah Rae; Fray, Martin D.; Gambadoro, Alessia; Gao, Xiang; Gertsenstein, Marina; Gomez-Segura, Alba; Goodwin, Leslie O.; Heaney, Jason D.; Herault, Yann; de Angelis, Martin Hrabe; Jiang, Si-Tse; Justice, Monica J.; Kasparek, Petr; King, Ruairidh E.; Kuhn, Ralf; Lee, Ho; Lee, Young Jae; Liu, Zhiwei; Lloyd, K. C. Kent; Lorenzo, Isabel; Mallon, Ann-Marie; McKerlie, Colin; Meehan, Terrence F.; Fuentes, Violeta Munoz; Newman, Stuart; Nutter, Lauryl M. J.; Oh, Goo Taeg; Pavlovic, Guillaume; Ramirez-Solis, Ramiro; Rosen, Barry; Ryder, Edward J.; Santos, Luis A.; Schick, Joel; Seavitt, John R.; Sedlacek, Radislav; Seisenberger, Claudia; Seong, Je Kyung; Skarnes, William C.; Sorg, Tania; Steel, Karen P.; Tamura, Masaru; Tocchini-Valentini, Glauco P.; Wang, Chi-Kuang Leo; Wardle-Jones, Hannah; Wattenhofer-Donze, Marie; Wells, Sara; Wiles, Michael V.; Willis, Brandon J.; Wood, Joshua A.; Wurst, Wolfgang; Xu, Ying; Teboul, Lydia; Murray, Stephen A. Share Save
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels Yuan, Bo; Wang, Lei; Liu, Pengfei; Shaw, Chad; Dai, Hongzheng; Cooper, Lance; Zhu, Wenmiao; Anderson, Stephanie A.; Meng, Linyan; Wang, Xia; Wang, Yue; Xia, Fan; Xiao, Rui; Braxton, Alicia; Peacock, Sandra; Schmitt, Eric; Ward, Patricia A.; Vetrini, Francesco; He, Weimin; Chiang, Theodore; Muzny, Donna; Gibbs, Richard A.; Beaudet, Arthur L.; Breman, Amy M.; Smith, Janice; Cheung, Sau Wai; Bacino, Carlos A.; Eng, Christine M.; Yang, Yaping; Lupski, James R.; Bi, Weimin Share Save
The Deep Genome Project Lloyd, K. C. Kent; Adams, David J.; Baynam, Gareth; Beaudet, Arthur L.; Bosch, Fatima; Boycott, Kym M.; Braun, Robert E.; Caulfield, Mark; Cohn, Ronald; Dickinson, Mary E.; Dobbie, Michael S.; Flenniken, Ann M.; Flicek, Paul; Galande, Sanjeev; Gao, Xiang; Grobler, Anne; Heaney, Jason D.; Herault, Yann; De Angelis, Martin Hrabe; Lupski, James R.; Lyonnet, Stanislas; Mallon, Ann-Marie; Mammano, Fabio; MacRae, Calum A.; McInnes, Roderick; McKerlie, Colin; Meehan, Terrence F.; Murray, Stephen A.; Nutter, Lauryl M. J.; Obata, Yuichi; Parkinson, Helen; Pepper, Michael S.; Sedlacek, Radislav; Seong, Je Kyung; Shiroishi, Toshihiko; Smedley, Damian; Tocchini-Valentini, Glauco; Valle, David; Wang, Chi-Kuang Leo; Wells, Sara; White, Jacqueline; Wurst, Wolfgang; Xu, Ying; Brown, Steve D. M. Share Save
Human and mouse essentiality screens as a resource for disease gene discovery Cacheiro, Pilar; Munoz-Fuentes, Violeta; Murray, Stephen A.; Dickinson, Mary E.; Bucan, Maja; Nutter, Lauryl M. J.; Peterson, Kevin A.; Haselimashhadi, Hamed; Flenniken, Ann M.; Morgan, Hugh; Westerberg, Henrik; Konopka, Tomasz; Hsu, Chih-Wei; Christiansen, Audrey; Lanza, Denise G.; Beaudet, Arthur L.; Heaney, Jason D.; Fuchs, Helmut; Gailus-Durner, Valerie; Sorg, Tania; Prochazka, Jan; Novosadova, Vendula; Lelliott, Christopher J.; Wardle-Jones, Hannah; Wells, Sara; Teboul, Lydia; Cater, Heather; Stewart, Michelle; Hough, Tertius; Wurst, Wolfgang; Sedlacek, Radislav; Adams, David J.; Seavitt, John R.; Tocchini-Valentini, Glauco; Mammano, Fabio; Braun, Robert E.; McKerlie, Colin; Herault, Yann; de Angelis, Martin Hrabe; Mallon, Ann-Marie; Lloyd, K. C. Kent; Brown, Steve D. M.; Parkinson, Helen; Meehan, Terrence F.; Smedley, Damian; Ambrose, J. C.; Arumugam, P.; Baple, E. L.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J. M.; Boustred, C. R.; Brittain, H.; Caulfield, M. J.; Chan, G. C.; Craig, C. E. H.; Daugherty, L. C.; de Burca, A.; Devereau, A.; Elgar, G.; Foulger, R. E.; Fowler, T.; Furio-Tari, P.; Hackett, J. M.; Halai, D.; Hamblin, A.; Henderson, S.; Holman, J. E.; Hubbard, T. J. P.; Ibanez, K.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Lahnstein, L.; Lawson, K.; Leigh, S. E. A.; Leong, I. U. S.; Lopez, F. J.; Maleady-Crowe, F.; Mason, J.; McDonagh, E. M.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A. C.; Odhams, C. A.; Patch, C.; Perez-Gil, D.; Polychronopoulos, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Riesgo-Ferreiro, P.; Rogers, T.; Ryten, M.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smith, K. R.; Sosinsky, A.; Spooner, W.; Stevens, H. E.; Stuckey, A.; Sultana, R.; Thomas, E. R. A.; Thompson, S. R.; Tregidgo, C.; Tucci, A.; Walsh, E.; Watters, S. A.; Welland, M. J.; Williams, E.; Witkowska, K.; Wood, S. M.; Zarowiecki, M.; Marschall, Susan; Lengger, Christoph; Maier, Holger; Seisenberger, Claudia; Buerger, Antje; Kuehn, Ralf; Schick, Joel; Hoerlein, Andreas; Oritz, Oskar; Giesert, Florian; Beig, Joachim; Kenyon, Janet; Codner, Gemma; Fray, Martin; Johnson, Sara J.; Cleak, James; Szoke-Kovacs, Zsombor; Lafont, David; Vancollie, Valerie E.; McLaren, Robbie S. B.; Hughes-Hallett, Lena; Rowley, Christine; Sanderson, Emma; Galli, Antonella; Tuck, Elizabeth; Green, Angela; Tudor, Catherine; Siragher, Emma; Dabrowska, Monika; Mazzeo, Cecilia Icoresi; Griffiths, Mark; Gannon, David; Doe, Brendan; Cockle, Nicola; Kirton, Andrea; Bottomley, Joanna; Ingle, Catherine; Ryder, Edward; Gleeson, Diane; Ramirez-Solis, Ramiro; Birling, Marie-Christine; Pavlovic, Guillaume; Ayadi, Abdel; Hamid, Meziane; About, Ghina Bou; Champy, Marie-France; Jacobs, Hugues; Wendling, Olivia; Leblanc, Sophie; Vasseur, Laurent; Chesler, Elissa J.; Kumar, Vivek; White, Jacqueline K.; Svenson, Karen L.; Wiegand, Jean-Paul; Anderson, Laura L.; Wilcox, Troy; Clark, James; Ryan, Jennifer; Denegre, James; Stearns, Tim; Philip, Vivek; Witmeyer, Catherine; Bates, Lindsay; Seavey, Zachary; Stanley, Pamela; Willet, Amelia; Roper, Willson; Creed, Julie; Moore, Michayla; Dorr, Alex; Fraungruber, Pamelia; Presby, Rose; Mckay, Matthew; Nguyen-Bresinsky, Dong; Goodwin, Leslie; Urban, Rachel; Kane, Coleen Share Save
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy Batzir, Nurit Assia; Bhagwat, Pranjali Kishor; Larson, Austin; Akdemir, Zeynep Coban; Baglaj, Maciej; Bofferding, Leon; Bosanko, Katherine B.; Bouassida, Skander; Callewaert, Bert; Cannon, Ashley; Colon, Yazmin Enchautegui; Garnica, Adolfo D.; Harr, Margaret H.; Heck, Sandra; Hurst, Anna C. E.; Jhangiani, Shalini N.; Isidor, Bertrand; Littlejohn, Rebecca O.; Liu, Pengfei; Magoulas, Pilar; Fan, Helen Mar; Marom, Ronit; McLean, Scott; Nezarati, Marjan M.; Nugent, Kimberly M.; Petersen, Michael B.; Rocha, Maria L.; Roeder, Elizabeth; Smigiel, Robert; Tully, Ian; Weisfeld-Adams, James; Wells, Katerina O.; Posey, Jennifer E.; Lupski, James R.; Beaudet, Arthur L.; Wangler, Michael F. Share Save
Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis Vossaert, Liesbeth; Wang, Qun; Salman, Roseen; McCombs, Anne K.; Patel, Vipulkumar; Qu, Chunjing; Mancini, Michael A.; Edwards, Dean P.; Malovannaya, Anna; Liu, Pengfei; Shaw, Chad A.; Levy, Brynn; Wapner, Ronald J.; Bi, Weimin; Breman, Amy M.; Van den Veyver, Ignatia B.; Beaudet, Arthur L. Share Save
Reanalysis of Clinical Exome Sequencing Data Liu, Pengfei; Meng, Linyan; Normand, Elizabeth A.; Xia, Fan; Song, Xiaofei; Ghazi, Andrew; Rosenfeld, Jill; Magoulas, Pilar L.; Braxton, Alicia; Ward, Patricia; Dai, Hongzheng; Yuan, Bo; Bi, Weimin; Xiao, Rui; Wang, Xia; Chiang, Theodore; Vetrini, Francesco; He, Weimin; Cheng, Hanyin; Dong, Jie; Gijavanekar, Charul; Benke, Paul J.; Bernstein, Jonathan A.; Eble, Tanya; Eroglu, Yasemen; Erwin, Deanna; Escobar, Luis; Gibson, James B.; Gripp, Karen; Kleppe, Soledad; Koenig, Mary K.; Lewis, Andrea M.; Natowicz, Marvin; Mancias, Pedro; Minor, LaKeesha; Scaglia, Fernando; Schaaf, Christian P.; Streff, Haley; Vernon, Hilary; Uhles, Crescenda L.; Zackai, Elaine H.; Wu, Nan; Sutton, V. Reid; Beaudet, Arthur L.; Muzny, Donna; Gibbs, Richard A.; Posey, Jennifer E.; Lalani, Seema; Shaw, Chad; Eng, Christine M.; Lupski, James R.; Yang, Yaping Share Save
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions Aref-Eshghi, Erfan; Bend, Eric G.; Colaiacovo, Samantha; Caudle, Michelle; Chakrabarti, Rana; Napier, Melanie; Brick, Lauren; Brady, Lauren; Carere, Deanna Alexis; Levy, Michael A.; Kerkhof, Jennifer; Stuart, Alan; Saleh, Maha; Beaudet, Arthur L.; Li, Chumei; Kozenko, Maryia; Karp, Natalya; Prasad, Chitra; Siu, Victoria Mok; Tarnopolsky, Mark A.; Ainsworth, Peter J.; Lin, Hanxin; Rodenhiser, David I.; Krantz, Ian D.; Deardorff, Matthew A.; Schwartz, Charles E.; Sadikovic, Bekim Share Save
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes Burrage, Lindsay C.; Reynolds, John J.; Baratang, Nissan Vida; Phillips, Jennifer B.; Wegner, Jeremy; McFarquhar, Ashley; Higgs, Martin R.; Christiansen, Audrey E.; Lanza, Denise G.; Seavitt, John R.; Jain, Mahim; Li, Xiaohui; Parry, David A.; Raman, Vandana; Chitayat, David; Chinn, Ivan K.; Bertuch, Alison A.; Karaviti, Lefkothea; Schlesinger, Alan E.; Earl, Dawn; Bamshad, Michael; Savarirayan, Ravi; Doddapaneni, Harsha; Muzny, Donna; Jhangiani, Shalini N.; Eng, Christine M.; Gibbs, Richard A.; Bi, Weimin; Emrick, Lisa; Rosenfeld, Jill A.; Postlethwait, John; Westerfield, Monte; Dickinson, Mary E.; Beaudet, Arthur L.; Ranza, Emmanuelle; Huber, Celine; Cormier-Daire, Valerie; Shen, Wei; Mao, Rong; Heaney, Jason D.; Orange, I. Jordan S.; Bertola, Debora; Yamamoto, Guilherme L.; Baratela, Wagner Ar; Butler, Merlin G.; Ali, Asim; Adeli, Mehdi; Cohn, Daniel H.; Krakow, Deborah; Jackson, Andrew P.; Lees, Melissa; Offiah, Amaka C.; Carlston, Colleen M.; Carey, John C.; Stewart, Grant S.; Bacino, Carlos A.; Campeau, Philippe M.; Lee, Brendan Share Save
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA (vol 25, pg 439, 2019) Zhang, Jinglan; Li, Jianli; Saucier, Jennifer B.; Feng, Yanming; Jiang, Yanjun; Sinson, Jefferson; McCombs, Anne K.; Schmitt, Eric S.; Peacock, Sandra; Chen, Stella; Dai, Hongzheng; Ge, Xiaoyan; Wang, Guoli; Shaw, Chad A.; Mei, Hui; Breman, Amy; Xia, Fan; Yang, Yaping; Purgason, Anne; Pourpak, Alan; Chen, Zhao; Wang, Xia; Wang, Yue; Kulkarni, Shashikant; Choy, Kwong Wai; Wapner, Ronald J.; Van den Veyver, Ignatia B.; Beaudet, Arthur; Parmar, Sheetal; Wong, Lee-Jun; Eng, Christine M. Share Save
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA Zhang, Jinglan; Li, Jianli; Saucier, Jennifer B.; Feng, Yanming; Jiang, Yanjun; Sinson, Jefferson; McCombs, Anne K.; Schmitt, Eric S.; Peacock, Sandra; Chen, Stella; Dai, Hongzheng; Ge, Xiaoyan; Wang, Guoli; Shaw, Chad A.; Mei, Hui; Breman, Amy; Xia, Fan; Yang, Yaping; Purgason, Anne; Pourpak, Alan; Chen, Zhao; Wang, Xia; Wang, Yue; Kulkarni, Shashikant; Choy, Kwong Wai; Wapner, Ronald J.; Van den Veyver, Ignatia B.; Beaudet, Arthur; Parmar, Sheetal; Wong, Lee-Jun; Eng, Christine M. Share Save
A pilot validation study for cell-based noninvasive prenatal testing (NIPT) in 42 cases Vossaert, Liesbeth; Wang, Qun; Salman, Roseen; McCombs, Anne; Henke, David; Qu, Chunjing; Bi, Weimin; Levy, Brynn; Yang, Yaping; Shaw, Chad; Wapner, Ronald; Breman, Amy; Van den Veyver, Ignatia; Beaudet, Arthur Share Save
Rapid and Integrative Discovery of Retina Regulatory Molecules Albrecht, Nicholas E.; Alevy, Jonathan; Jiang, Danye; Burger, Courtney A.; Liu, Brian I.; Li, Fenge; Wang, Julia; Kim, Seon-Young; Hsu, Chih-Wei; Kalaga, Sowmya; Udensi, Uchechukwu; Asomugha, Chinwe; Bohat, Ritu; Gaspero, Angelina; Justice, Monica J.; Westenskow, Peter D.; Yamamoto, Shinya; Seavitt, John R.; Beaudet, Arthur L.; Dickinson, Mary E.; Samuel, Melanie A. Share Save
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