Whole-genome haplotyping approaches and genomic medicine

por Glusman, Gustavo, Cox, Hannah C, Roach, Jared C
Publicado 2014

Demographic and socioeconomic trends in DNA banking utilization in the USA

por Prudent, Joshua, Lopez, Esthermarie, Dorshorst, Donna, Cox, Hannah C., Bodurtha, Joann N.
Publicado 2021

Variants in the human potassium channel gene (KCNN3) are associated with migraine in a high risk genetic isolate

por Cox, Hannah C., Lea, Rod A., Bellis, Claire, Carless, Melanie, Dyer, Tom, Blangero, John, Griffiths, Lyn R.
Publicado 2011

A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next‐generation sequencing hereditary pan‐cancer panel are acquired somatically

por Coffee, Bradford, Cox, Hannah C., Bernhisel, Ryan, Manley, Susan, Bowles, Karla, Roa, Benjamin B., Mancini‐DiNardo, Debora
Publicado 2019

An X Chromosome Association Scan of the Norfolk Island Genetic Isolate Provides Evidence for a Novel Migraine Susceptibility Locus at Xq12

por Maher, Bridget H., Lea, Rod A., Benton, Miles, Cox, Hannah C., Bellis, Claire, Carless, Melanie, Dyer, Thomas D., Curran, Joanne, Charlesworth, Jac C., Buring, Julie E., Kurth, Tobias, Chasman, Daniel I., Ridker, Paul M., Schürks, Markus, Blangero, John, Griffiths, Lyn R.
Publicado 2012

Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genes

por Kerr, Iain D., Cox, Hannah C., Moyes, Kelsey, Evans, Brent, Burdett, Brianna C., van Kan, Aric, McElroy, Heather, Vail, Paris J., Brown, Krystal L., Sumampong, Dechie B., Monteferrante, Nicholas J., Hardman, Kennedy L., Theisen, Aaron, Mundt, Erin, Wenstrup, Richard J., Eggington, Julie M.
Publicado 2017

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

por Brownstein, Catherine A, Beggs, Alan H, Homer, Nils, Merriman, Barry, Yu, Timothy W, Flannery, Katherine C, DeChene, Elizabeth T, Towne, Meghan C, Savage, Sarah K, Price, Emily N, Holm, Ingrid A, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, McCallie Jr, David, Szolovits, Peter, Willard, Huntington F, Mendelsohn, Nancy J, Temme, Renee, Finkel, Richard S, Yum, Sabrina W, Medne, Livija, Sunyaev, Shamil R, Adzhubey, Ivan, Cassa, Christopher A, de Bakker, Paul IW, Duzkale, Hatice, Dworzyński, Piotr, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Giovanni, Monica A, Handsaker, Robert E, Lage, Kasper, Lebo, Matthew S, Lek, Monkol, Leshchiner, Ignaty, MacArthur, Daniel G, McLaughlin, Heather M, Murray, Michael F, Pers, Tune H, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Soemedi, Rachel, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Deng, Mario, Braun, Martin, Perner, Sven, Smith, Richard JH, Andorf, Janeen L, Huang, Jian, Ryckman, Kelli, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Black-Ziegelbein, E Ann, Braun, Terry A, Darbro, Benjamin, DeLuca, Adam P, Kolbe, Diana L, Scheetz, Todd E, Shearer, Aiden E, Sompallae, Rama, Wang, Kai, Bassuk, Alexander G, Edens, Erik, Mathews, Katherine, Moore, Steven A, Shchelochkov, Oleg A, Trapane, Pamela, Bossler, Aaron, Campbell, Colleen A, Heusel, Jonathan W, Kwitek, Anne, Maga, Tara, Panzer, Karin, Wassink, Thomas, Van Daele, Douglas, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Segal, Michael M, Williams, Marc S, Tromp, Gerard, White, Peter, Corsmeier, Donald, Fitzgerald-Butt, Sara, Herman, Gail, Lamb-Thrush, Devon, McBride, Kim L, Newsom, David, Pierson, Christopher R, Rakowsky, Alexander T, Maver, Aleš, Lovrečić, Luca, Palandačić, Anja, Peterlin, Borut, Torkamani, Ali, Wedell, Anna, Huss, Mikael, Alexeyenko, Andrey, Lindvall, Jessica M, Magnusson, Måns, Nilsson, Daniel, Stranneheim, Henrik, Taylan, Fulya, Gilissen, Christian, Hoischen, Alexander, van Bon, Bregje, Yntema, Helger, Nelen, Marcel, Zhang, Weidong, Sager, Jason, Zhang, Lu, Blair, Kathryn, Kural, Deniz, Cariaso, Michael, Lennon, Greg G, Javed, Asif, Agrawal, Saloni, Ng, Pauline C, Sandhu, Komal S, Krishna, Shuba, Veeramachaneni, Vamsi, Isakov, Ofer, Halperin, Eran, Friedman, Eitan, Shomron, Noam, Glusman, Gustavo, Roach, Jared C, Caballero, Juan, Cox, Hannah C, Mauldin, Denise, Ament, Seth A, Rowen, Lee, Richards, Daniel R, Lucas, F Anthony San, Gonzalez-Garay, Manuel L, Caskey, C Thomas, Bai, Yu, Huang, Ying, Fang, Fang, Zhang, Yan, Wang, Zhengyuan, Barrera, Jorge, Garcia-Lobo, Juan M, González-Lamuño, Domingo, Llorca, Javier, Rodriguez, Maria C, Varela, Ignacio, Reese, Martin G, De La Vega, Francisco M, Kiruluta, Edward, Cargill, Michele, Hart, Reece K, Sorenson, Jon M, Lyon, Gholson J, Stevenson, David A, Bray, Bruce E, Moore, Barry M, Eilbeck, Karen, Yandell, Mark, Zhao, Hongyu, Hou, Lin, Chen, Xiaowei, Yan, Xiting, Chen, Mengjie, Li, Cong, Yang, Can, Gunel, Murat, Li, Peining, Kong, Yong, Alexander, Austin C, Albertyn, Zayed I, Boycott, Kym M, Bulman, Dennis E, Gordon, Paul MK, Innes, A Micheil, Knoppers, Bartha M, Majewski, Jacek, Marshall, Christian R, Parboosingh, Jillian S, Sawyer, Sarah L, Samuels, Mark E, Schwartzentruber, Jeremy, Kohane, Isaac S, Margulies, David M
Publicado 2014