Psychiatric Disorders and Distal 21q Deletion—A Case Report

Por Briegel, Wolfgang, Hoyer, Juliane
Publicado no Int J Environ Res Public Health (2020)

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 no Eur J Hum Genet (2017)

Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling

Por Vasileiou, Georgia, Ekici, Arif B., Uebe, Steffen, Zweier, Christiane, Hoyer, Juliane, Engels, Hartmut, Behrens, Jürgen, Reis, André, Hadjihannas, Michel V.
Publicado no Am J Hum Genet (2015)

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 no Mod Pathol (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 no Eur J Hum Genet (2015)

Virulence Factors Produced by Staphylococcus aureus Biofilms Have a Moonlighting Function Contributing to Biofilm Integrity

Por Graf, Alexander C., Leonard, Anne, Schäuble, Manuel, Rieckmann, Lisa M., Hoyer, Juliane, Maass, Sandra, Lalk, Michael, Becher, Dörte, Pané-Farré, Jan, Riedel, Katharina
Publicado no Mol Cell Proteomics (2019)

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 em 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 no BMC Cancer (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 no Eur J Med Res (2019)

De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability

Por Gregor, Anne, Oti, Martin, Kouwenhoven, Evelyn N., Hoyer, Juliane, Sticht, Heinrich, Ekici, Arif B., Kjaergaard, Susanne, Rauch, Anita, Stunnenberg, Hendrik G., Uebe, Steffen, Vasileiou, Georgia, Reis, André, Zhou, Huiqing, Zweier, Christiane
Publicado em 2013

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

Por Engels, Hartmut, Wohlleber, Eva, Zink, Alexander, Hoyer, Juliane, Ludwig, Kerstin U, Brockschmidt, Felix F, Wieczorek, Dagmar, Moog, Ute, Hellmann-Mersch, Birgit, Weber, Ruthild G, Willatt, Lionel, Kreiß-Nachtsheim, Martina, Firth, Helen V, Rauch, Anita
Publicado em 2009

Molecular karyotyping in patients with mental retardation using 100K single‐nucleotide polymorphism arrays

Por Hoyer, Juliane, Dreweke, Alexander, Becker, Christian, Göhring, Ina, Thiel, Christian T, Peippo, Maarit M, Rauch, Ralf, Hofbeck, Michael, Trautmann, Udo, Zweier, Christiane, Zenker, Martin, Hüffmeier, Ulrike, Kraus, Cornelia, Ekici, Arif B, Rüschendorf, Franz, Nürnberg, Peter, Reis, André, Rauch, Anita
Publicado em 2007

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 no BMC Med Imaging (2020)

Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

Por Renard, Marjolijn, Holm, Tammy, Veith, Regan, Callewaert, Bert L, Adès, Lesley C, Baspinar, Osman, Pickart, Angela, Dasouki, Majed, Hoyer, Juliane, Rauch, Anita, Trapane, Pamela, Earing, Michael G, Coucke, Paul J, Sakai, Lynn Y, Dietz, Harry C, De Paepe, Anne M, Loeys, Bart L
Publicado em 2010

Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

Por Hoyer, Juliane, Ekici, Arif B., Endele, Sabine, Popp, Bernt, Zweier, Christiane, Wiesener, Antje, Wohlleber, Eva, Dufke, Andreas, Rossier, Eva, Petsch, Corinna, Zweier, Markus, Göhring, Ina, Zink, Alexander M., Rappold, Gudrun, Schröck, Evelin, Wieczorek, Dagmar, Riess, Olaf, Engels, Hartmut, Rauch, Anita, Reis, André
Publicado em 2012

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 em 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 no Geburtshilfe Frauenheilkd (2018)

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Por Zweier, Christiane, Peippo, Maarit M., Hoyer, Juliane, Sousa, Sérgio, Bottani, Armand, Clayton-Smith, Jill, Reardon, William, Saraiva, Jorge, Cabral, Alexandra, Göhring, Ina, Devriendt, Koen, de Ravel, Thomy, Bijlsma, Emilia K., Hennekam, Raoul C. M., Orrico, Alfredo, Cohen, Monika, Dreweke, Alexander, Reis, André, Nürnberg, Peter, Rauch, Anita
Publicado em 2007

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

Por Stankiewicz, Paweł, Khan, Tahir N., Szafranski, Przemyslaw, Slattery, Leah, Streff, Haley, Vetrini, Francesco, Bernstein, Jonathan A., Brown, Chester W., Rosenfeld, Jill A., Rednam, Surya, Scollon, Sarah, Bergstrom, Katie L., Parsons, Donald W., Plon, Sharon E., Vieira, Marta W., Quaio, Caio R.D.C., Baratela, Wagner A.R., Acosta Guio, Johanna C., Armstrong, Ruth, Mehta, Sarju G., Rump, Patrick, Pfundt, Rolph, Lewandowski, Raymond, Fernandes, Erica M., Shinde, Deepali N., Tang, Sha, Hoyer, Juliane, Zweier, Christiane, Reis, André, Bacino, Carlos A., Xiao, Rui, Breman, Amy M., Smith, Janice L., Katsanis, Nicholas, Bostwick, Bret, Popp, Bernt, Davis, Erica E., Yang, Yaping
Publicado no Am J Hum Genet (2017)

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 no Genet Med (2019)