Psychiatric Disorders and Distal 21q Deletion—A Case Report

por Briegel, Wolfgang, Hoyer, Juliane
Publicado 2020

Familial acute aortic dissection associated with a novel ACTA2 germline variant

por Strecker, Thomas, Wiesmueller, Felix, Rudnik-Schöneborn, Sabine, Hoyer, Juliane, Reis, André, Weyand, Michael, Agaimy, Abbas
Publicado 2022

What’s a Biofilm?—How the Choice of the Biofilm Model Impacts the Protein Inventory of Clostridioides difficile

por Brauer, Madita, Lassek, Christian, Hinze, Christian, Hoyer, Juliane, Becher, Dörte, Jahn, Dieter, Sievers, Susanne, Riedel, Katharina
Publicado 2021

Exome Pool-Seq in neurodevelopmental disorders

por Popp, Bernt, Ekici, Arif B., Thiel, Christian T., Hoyer, Juliane, Wiesener, Antje, Kraus, Cornelia, Reis, André, Zweier, Christiane
Publicado 2017

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants

por Popp, Bernt, Erber, Ramona, Kraus, Cornelia, Vasileiou, Georgia, Hoyer, Juliane, Burghaus, Stefanie, Hartmann, Arndt, Beckmann, Matthias W., Reis, André, Agaimy, Abbas
Publicado 2020

De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females

por Popp, Bernt, Støve, Svein I, Endele, Sabine, Myklebust, Line M, Hoyer, Juliane, Sticht, Heinrich, Azzarello-Burri, Silvia, Rauch, Anita, Arnesen, Thomas, Reis, André
Publicado 2015

Rare Copy Number Variants Are a Common Cause of Short Stature

por Zahnleiter, Diana, Uebe, Steffen, Ekici, Arif B., Hoyer, Juliane, Wiesener, Antje, Wieczorek, Dagmar, Kunstmann, Erdmute, Reis, André, Doerr, Helmuth-Guenther, Rauch, Anita, Thiel, Christian T.
Publicado 2013

Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria

por Hoyer, Juliane, Vasileiou, Georgia, Uebe, Steffen, Wunderle, Marius, Kraus, Cornelia, Fasching, Peter A., Thiel, Christian T., Hartmann, Arndt, Beckmann, Matthias W., Lux, Michael P., Reis, André
Publicado 2018

Cost effectiveness of bilateral risk-reducing mastectomy and salpingo-oophorectomy

por Schrauder, Michael G., Brunel-Geuder, Lisa, Häberle, Lothar, Wunderle, Marius, Hoyer, Juliane, Csorba, Roland, Reis, André, Schulz-Wendtland, Rüdiger, Beckmann, Matthias W., Lux, Michael P.
Publicado 2019

Ex Vivo Chromosomal Radiosensitivity Testing in Patients with Pathological Germline Variants in Breast Cancer High-Susceptibility Genes BReast CAncer 1 and BReast CAncer 2

por Zuhair Kassem, Tara, Wunderle, Marius, Kuhlmann, Lukas, Ruebner, Matthias, Huebner, Hanna, Hoyer, Juliane, Reis, André, Fasching, Peter A., Beckmann, Matthias W., Hack, Carolin C., Fietkau, Rainer, Distel, Luitpold
Publicado 2023

Breast MRI texture analysis for prediction of BRCA-associated genetic risk

por Vasileiou, Georgia, Costa, Maria J., Long, Christopher, Wetzler, Iris R., Hoyer, Juliane, Kraus, Cornelia, Popp, Bernt, Emons, Julius, Wunderle, Marius, Wenkel, Evelyn, Uder, Michael, Beckmann, Matthias W., Jud, Sebastian M., Fasching, Peter A., Cavallaro, Alexander, Reis, André, Hammon, Matthias
Publicado 2020

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

por Gregor, Anne, Albrecht, Beate, Bader, Ingrid, Bijlsma, Emilia K, Ekici, Arif B, Engels, Hartmut, Hackmann, Karl, Horn, Denise, Hoyer, Juliane, Klapecki, Jakub, Kohlhase, Jürgen, Maystadt, Isabelle, Nagl, Sandra, Prott, Eva, Tinschert, Sigrid, Ullmann, Reinhard, Wohlleber, Eva, Woods, Geoffrey, Reis, André, Rauch, Anita, Zweier, Christiane
Publicado 2011

Risk, Prediction and Prevention of Hereditary Breast Cancer – Large-Scale Genomic Studies in Times of Big and Smart Data

por Wunderle, Marius, Olmes, Gregor, Nabieva, Naiba, Häberle, Lothar, Jud, Sebastian M., Hein, Alexander, Rauh, Claudia, Hack, Carolin C., Erber, Ramona, Ekici, Arif B., Hoyer, Juliane, Vasileiou, Georgia, Kraus, Cornelia, Reis, André, Hartmann, Arndt, Schulz-Wendtland, Rüdiger, Lux, Michael P., Beckmann, Matthias W., Fasching, Peter A.
Publicado 2018

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

por Mirzaa, Ghayda, Chong, Jessica X., Piton, Amélie, Popp, Bernt, Foss, Kimberly, Guo, Hui, Harripaul, Ricardo, Xia, Kun, Scheck, Joshua, Aldinger, Kimberly A., Sajan, Samin A., Tang, Sha, Bonneau, Dominique, Beck, Anita, White, Janson, Mahida, Sonal, Harris, Jacqueline, Smith-Hicks, Constance, Hoyer, Juliane, Zweier, Christiane, Reis, André, Thiel, Christian T., Jamra, Rami Abou, Zeid, Natasha, Yang, Amy, Farach, Laura S., Walsh, Laurence, Payne, Katelyn, Rohena, Luis, Velinov, Milen, Ziegler, Alban, Schaefer, Elise, Gatinois, Vincent, Geneviève, David, Simon, Marleen E.H., Kohler, Jennefer, Rotenberg, Joshua, Wheeler, Patricia, Larson, Austin, Ernst, Michelle E., Akman, Cigdem I., Westman, Rachel, Blanchet, Patricia, Schillaci, Lori-Anne, Vincent-Delorme, Catherine, Gripp, Karen W., Mattioli, Francesca, Guyader, Gwenaël Le, Gerard, Bénédicte, Mathieu-Dramard, Michèle, Morin, Gilles, Sasanfar, Roksana, Ayub, Muhammad, Vasli, Nasim, Yang, Sandra, Person, Rick, Monaghan, Kristin G., Nickerson, Deborah A., van Binsbergen, Ellen, Enns, Gregory M, Dries, Annika M, Rowe, Leah J, Tsai, Anne CH, Svihovec, Shayna, Friedman, Jennifer, Agha, Zehra, Qamar, Raheel, Rodan, Lance H., Martinez-Agosto, Julian, Ockeloen, Charlotte W., Vincent, Marie, Sunderland, William James, Bernstein, Jonathan A., Eichler, Evan E., Vincent, John B., Bamshad, Michael J.
Publicado 2019