A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1

por Delpire, Eric, Wolfe, Lynne, Flores, Bianca, Koumangoye, Rainelli, Schornak, Cara C., Omer, Salma, Pusey, Barbara, Lau, Christopher, Markello, Thomas, Adams, David R.
Publicado 2016

Explorations to improve the completeness of exome sequencing

por Du, Chen, Pusey, Barbara N., Adams, Christopher J., Lau, C. Christopher, Bone, William P., Gahl, William A., Markello, Thomas C., Adams, David R.
Publicado 2016

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

por Kobren, Shilpa Nadimpalli, Baldridge, Dustin, Velinder, Matt, Krier, Joel B., LeBlanc, Kimberly, Esteves, Cecilia, Pusey, Barbara N., Züchner, Stephan, Blue, Elizabeth, Lee, Hane, Huang, Alden, Bastarache, Lisa, Bican, Anna, Cogan, Joy, Marwaha, Shruti, Alkelai, Anna, Murdock, David R., Liu, Pengfei, Wegner, Daniel J., Paul, Alexander J., Sunyaev, Shamil R., Kohane, Isaac S.
Publicado 2021

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

por Maduro, Valerie, Pusey, Barbara N., Cherukuri, Praveen F., Atkins, Paul, du Souich, Christèle, Rupps, Rosemarie, Limbos, Marjolaine, Adams, David R., Bhatt, Samarth S., Eydoux, Patrice, Links, Amanda E., Lehman, Anna, Malicdan, May C., Mason, Christopher E., Morimoto, Marie, Mullikin, James C., Sear, Andrew, Van Karnebeek, Clara, Stankiewicz, Pawel, Gahl, William A., Toro, Camilo, Boerkoel, Cornelius F.
Publicado 2016