Long-Read Sequencing Emerging in Medical Genetics

Por Mantere, Tuomo, Kersten, Simone, Hoischen, Alexander
Publicado no Front Genet (2019)

Arterial Wall Inflammation and Increased Hematopoietic Activity in Patients With Primary Aldosteronism

Por van der Heijden, Charlotte D C C, Smeets, Esther M M, Aarntzen, Erik H J G, Noz, Marlies P, Monajemi, Houshang, Kersten, Simone, Kaffa, Charlotte, Hoischen, Alexander, Deinum, Jaap, Joosten, Leo A B, Netea, Mihai G, Riksen, Niels P
Publicado no J Clin Endocrinol Metab (2019)

Presence of Genetic Variants Among Young Men With Severe COVID-19

Por van der Made, Caspar I., Simons, Annet, Schuurs-Hoeijmakers, Janneke, van den Heuvel, Guus, Mantere, Tuomo, Kersten, Simone, van Deuren, Rosanne C., Steehouwer, Marloes, van Reijmersdal, Simon V., Jaeger, Martin, Hofste, Tom, Astuti, Galuh, Corominas Galbany, Jordi, van der Schoot, Vyne, van der Hoeven, Hans, Hagmolen of ten Have, Wanda, Klijn, Eva, van den Meer, Catrien, Fiddelaers, Jeroen, de Mast, Quirijn, Bleeker-Rovers, Chantal P., Joosten, Leo A. B., Yntema, Helger G., Gilissen, Christian, Nelen, Marcel, van der Meer, Jos W. M., Brunner, Han G., Netea, Mihai G., van de Veerdonk, Frank L., Hoischen, Alexander
Publicado no JAMA (2020)

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Por Konrad, Enrico D. H., Nardini, Niels, Caliebe, Almuth, Nagel, Inga, Young, Dana, Horvath, Gabriella, Santoro, Stephanie L., Shuss, Christine, Ziegler, Alban, Bonneau, Dominique, Kempers, Marlies, Pfundt, Rolph, Legius, Eric, Bouman, Arjan, Stuurman, Kyra E., Õunap, Katrin, Pajusalu, Sander, Wojcik, Monica H., Vasileiou, Georgia, Le Guyader, Gwenaël, Schnelle, Hege M., Berland, Siren, Zonneveld-Huijssoon, Evelien, Kersten, Simone, Gupta, Aditi, Blackburn, Patrick R., Ellingson, Marissa S., Ferber, Matthew J., Dhamija, Radhika, Klee, Eric W., McEntagart, Meriel, Lichtenbelt, Klaske D., Kenney, Amy, Vergano, Samantha A., Abou Jamra, Rami, Platzer, Konrad, Ella Pierpont, Mary, Khattar, Divya, Hopkin, Robert J., Martin, Richard J., Jongmans, Marjolijn C. J., Chang, Vivian Y., Martinez-Agosto, Julian A., Kuismin, Outi, Kurki, Mitja I., Pietiläinen, Olli, Palotie, Aarno, Maarup, Timothy J., Johnson, Diana S., Venborg Pedersen, Katja, Laulund, Lone W., Lynch, Sally A., Blyth, Moira, Prescott, Katrina, Canham, Natalie, Ibitoye, Rita, Brilstra, Eva H., Shinawi, Marwan, Fassi, Emily, Sticht, Heinrich, Gregor, Anne, Van Esch, Hilde, Zweier, Christiane
Publicado no Genet Med (2019)

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

Por Vissers, Lisenka E.L.M., Kalvakuri, Sreehari, de Boer, Elke, Geuer, Sinje, Oud, Machteld, van Outersterp, Inge, Kwint, Michael, Witmond, Melde, Kersten, Simone, Polla, Daniel L., Weijers, Dilys, Begtrup, Amber, McWalter, Kirsty, Ruiz, Anna, Gabau, Elisabeth, Morton, Jenny E.V., Griffith, Christopher, Weiss, Karin, Gamble, Candace, Bartley, James, Vernon, Hilary J., Brunet, Kendra, Ruivenkamp, Claudia, Kant, Sarina G., Kruszka, Paul, Larson, Austin, Afenjar, Alexandra, Billette de Villemeur, Thierry, Nugent, Kimberly, Raymond, F. Lucy, Venselaar, Hanka, Demurger, Florence, Soler-Alfonso, Claudia, Li, Dong, Bhoj, Elizabeth, Hayes, Ian, Hamilton, Nina Powell, Ahmad, Ayesha, Fisher, Rachel, van den Born, Myrthe, Willems, Marjolaine, Sorlin, Arthur, Delanne, Julian, Moutton, Sebastien, Christophe, Philippe, Mau-Them, Frederic Tran, Vitobello, Antonio, Goel, Himanshu, Massingham, Lauren, Phornphutkul, Chanika, Schwab, Jennifer, Keren, Boris, Charles, Perrine, Vreeburg, Maaike, De Simone, Lenika, Hoganson, George, Iascone, Maria, Milani, Donatella, Evenepoel, Lucie, Revencu, Nicole, Ward, D. Isum, Burns, Kaitlyn, Krantz, Ian, Raible, Sarah E., Murrell, Jill R., Wood, Kathleen, Cho, Megan T., van Bokhoven, Hans, Muenke, Maximilian, Kleefstra, Tjitske, Bodmer, Rolf, de Brouwer, Arjan P.M.
Publicado no Am J Hum Genet (2020)