A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia

por Zhang, Lei, Cooley, Linda D., Chandratre, Sonal R., Ahmed, Atif, Jacobson, Jill D.
Publicado 2013

Near haploidization is a genomic hallmark which defines a molecular subgroup of giant cell glioblastoma

por Baker, Tiffany G, Alden, Jay, Dubuc, Adrian M, Welsh, Cynthia T, Znoyko, Iya, Cooley, Linda D, Farooqi, Midhat S, Schwartz, Stuart, Li, Yvonne Y, Cherniack, Andrew D, Lindhorst, Scott M, Gener, Melissa, Wolff, Daynna J, Meredith, David M
Publicado 2020

Clinical detection of deletion structural variants in whole-genome sequences

por Noll, Aaron C, Miller, Neil A, Smith, Laurie D, Yoo, Byunggil, Fiedler, Stephanie, Cooley, Linda D, Willig, Laurel K, Petrikin, Josh E, Cakici, Julie, Lesko, John, Newton, Angela, Detherage, Kali, Thiffault, Isabelle, Saunders, Carol J, Farrow, Emily G, Kingsmore, Stephen F
Publicado 2016

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

por Guimier, Anne, Gabriel, George C., Bajolle, Fanny, Tsang, Michael, Liu, Hui, Noll, Aaron, Schwartz, Molly, El Malti, Rajae, Smith, Laurie D., Klena, Nikolai T., Jimenez, Gina, Miller, Neil A., Oufadem, Myriam, Moreau de Bellaing, Anne, Yagi, Hisato, Saunders, Carol J., Baker, Candice N., Di Filippo, Sylvie, Peterson, Kevin A., Thiffault, Isabelle, Bole-Feysot, Christine, Cooley, Linda D., Farrow, Emily G., Masson, Cécile, Schoen, Patric, Deleuze, Jean-François, Nitschké, Patrick, Lyonnet, Stanislas, de Pontual, Loic, Murray, Stephen A., Bonnet, Damien, Kingsmore, Stephen F., Amiel, Jeanne, Bouvagnet, Patrice, Lo, Cecilia W., Gordon, Christopher T.
Publicado 2015