Cost-effectiveness of cascade genetic testing for familial hypercholesterolemia in the United States: A simulation analysis

por Jackson, Candace L., Huschka, Todd, Borah, Bijan, Agre, Katherine, Zordok, Magdi, Farwati, Medhat, Moriarty, James, Kullo, Iftikhar J.
Publicado 2021

Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1

por Wilton, Katelynn M., Morales‐Rosado, Joel A., Selcen, Duygu, Muthusamy, Karthik, Ewing, Sarah, Agre, Katherine, Nickels, Katherine, Klee, Eric W., Ho, Mai‐Lan, Morava, Eva
Publicado 2020

Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes

por Oftedal, Bergithe E., Assing, Kristian, Baris, Safa, Safgren, Stephanie L., Johansen, Isik S., Jakobsen, Marianne Antonius, Babovic-Vuksanovic, Dusica, Agre, Katherine, Klee, Eric W., Majcic, Emina, Ferré, Elise M.N., Schmitt, Monica M., DiMaggio, Tom, Rosen, Lindsey B., Rahman, Muhammad Obaidur, Chrysis, Dionisios, Giannakopoulos, Aristeidis, Garcia, Maria Tallon, González-Granado, Luis Ignacio, Stanley, Katherine, Galant-Swafford, Jessica, Suwannarat, Pim, Meyts, Isabelle, Lionakis, Michail S., Husebye, Eystein S.
Publicado 2023

Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea

por Sörmann, Janina, Schewe, Marcus, Proks, Peter, Jouen-Tachoire, Thibault, Rao, Shanlin, Riel, Elena B., Agre, Katherine E., Begtrup, Amber, Dean, John, Descartes, Maria, Fischer, Jan, Gardham, Alice, Lahner, Carrie, Mark, Paul R., Muppidi, Srikanth, Pichurin, Pavel N., Porrmann, Joseph, Schallner, Jens, Smith, Kirstin, Straub, Volker, Vasudevan, Pradeep, Willaert, Rebecca, Carpenter, Elisabeth P., Rödström, Karin E. J., Hahn, Michael G., Müller, Thomas, Baukrowitz, Thomas, Hurles, Matthew E., Wright, Caroline F., Tucker, Stephen J.
Publicado 2022

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

por Yan, Kezhi, Rousseau, Justine, Machol, Keren, Cross, Laura A., Agre, Katherine E., Gibson, Cynthia Forster, Goverde, Anne, Engleman, Kendra L., Verdin, Hannah, De Baere, Elfride, Potocki, Lorraine, Zhou, Dihong, Cadieux-Dion, Maxime, Bellus, Gary A., Wagner, Monisa D., Hale, Rebecca J., Esber, Natacha, Riley, Alan F., Solomon, Benjamin D., Cho, Megan T., McWalter, Kirsty, Eyal, Roy, Hainlen, Meagan K., Mendelsohn, Bryce A., Porter, Hillary M., Lanpher, Brendan C., Lewis, Andrea M., Savatt, Juliann, Thiffault, Isabelle, Callewaert, Bert, Campeau, Philippe M., Yang, Xiang-Jiao
Publicado 2020