Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long‐read sequencing

por Mehinovic, Elvisa, Gray, Teddi, Campbell, Meghan, Ekholm, Jenny, Wenger, Aaron, Rowell, William, Grudo, Ari, Grimwood, Jane, Korlach, Jonas, Gurnett, Christina, Constantino, John N., Turner, Tychele N.
Publicado 2022

Alu element in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder

por Laine, Pia, Rowell, William J., Paulin, Lars, Kujawa, Steve, Raterman, Denise, Mayhew, George, Wendt, Jennifer, Burgess, Daniel L., Partonen, Timo, Paunio, Tiina, Auvinen, Petri, Ekholm, Jenny M.
Publicado 2021

Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy

por Wieben, Eric D., Aleff, Ross A., Basu, Shubham, Sarangi, Vivekananda, Bowman, Brett, McLaughlin, Ian J., Mills, John R., Butz, Malinda L., Highsmith, Edward W., Ida, Cristiane M., Ekholm, Jenny M., Baratz, Keith H., Fautsch, Michael P.
Publicado 2019

An improved genome assembly uncovers prolific tandem repeats in Atlantic cod

por Tørresen, Ole K., Star, Bastiaan, Jentoft, Sissel, Reinar, William B., Grove, Harald, Miller, Jason R., Walenz, Brian P., Knight, James, Ekholm, Jenny M., Peluso, Paul, Edvardsen, Rolf B., Tooming-Klunderud, Ave, Skage, Morten, Lien, Sigbjørn, Jakobsen, Kjetill S., Nederbragt, Alexander J.
Publicado 2017