Psychiatric Disorders and Distal 21q Deletion—A Case Report

av Briegel, Wolfgang, Hoyer, Juliane
I publikationen Int J Environ Res Public Health (2020)

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

av Brauer, Madita, Lassek, Christian, Hinze, Christian, Hoyer, Juliane, Becher, Dörte, Jahn, Dieter, Sievers, Susanne, Riedel, Katharina
I publikationen Front Microbiol (2021)

Exome Pool-Seq in neurodevelopmental disorders

av Popp, Bernt, Ekici, Arif B., Thiel, Christian T., Hoyer, Juliane, Wiesener, Antje, Kraus, Cornelia, Reis, André, Zweier, Christiane
I publikationen Eur J Hum Genet (2017)

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

av Vasileiou, Georgia, Ekici, Arif B., Uebe, Steffen, Zweier, Christiane, Hoyer, Juliane, Engels, Hartmut, Behrens, Jürgen, Reis, André, Hadjihannas, Michel V.
I publikationen Am J Hum Genet (2015)

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

av Popp, Bernt, Erber, Ramona, Kraus, Cornelia, Vasileiou, Georgia, Hoyer, Juliane, Burghaus, Stefanie, Hartmann, Arndt, Beckmann, Matthias W., Reis, André, Agaimy, Abbas
I publikationen Mod Pathol (2020)

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

av Popp, Bernt, Støve, Svein I, Endele, Sabine, Myklebust, Line M, Hoyer, Juliane, Sticht, Heinrich, Azzarello-Burri, Silvia, Rauch, Anita, Arnesen, Thomas, Reis, André
I publikationen Eur J Hum Genet (2015)

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

av Graf, Alexander C., Leonard, Anne, Schäuble, Manuel, Rieckmann, Lisa M., Hoyer, Juliane, Maass, Sandra, Lalk, Michael, Becher, Dörte, Pané-Farré, Jan, Riedel, Katharina
I publikationen Mol Cell Proteomics (2019)

Rare Copy Number Variants Are a Common Cause of Short Stature

av 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.
Publicerad 2013

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

av 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
I publikationen BMC Cancer (2018)

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

av 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.
I publikationen Eur J Med Res (2019)

De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability

av 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
Publicerad 2013

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

av 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
Publicerad 2009

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

av 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
Publicerad 2007

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

av 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
I publikationen BMC Med Imaging (2020)

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

av 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
Publicerad 2010

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

av 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
Publicerad 2012

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

av 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
Publicerad 2011

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

av 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.
I publikationen Geburtshilfe Frauenheilkd (2018)

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

av 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
Publicerad 2007

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

av 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
I publikationen Am J Hum Genet (2017)