Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18%

por Bartolomaeus, Tobias, Hentschel, Julia, Jamra, Rami Abou, Popp, Bernt
Publicado 2023

Clinical Impact of Polygenic Risk Score for Breast Cancer Risk Prediction in 382 Individuals with Hereditary Breast and Ovarian Cancer Syndrome

por Stiller, Sarah, Drukewitz, Stephan, Lehmann, Kathleen, Hentschel, Julia, Strehlow, Vincent
Publicado 2023

DNA damage-induced translocation of S100A11 into the nucleus regulates cell proliferation

por Gorsler, Theresa, Murzik, Ulrike, Ulbricht, Tobias, Hentschel, Julia, Hemmerich, Peter, Melle, Christian
Publicado 2010

Reduced Nasal Nitric Oxide Production in Cystic Fibrosis Patients with Elevated Systemic Inflammation Markers

por Michl, Ruth K., Hentschel, Julia, Fischer, Christiane, Beck, James F., Mainz, Jochen G.
Publicado 2013

Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders

por Halfmeyer, Insa, Bartolomaeus, Tobias, Popp, Bernt, Radtke, Maximilian, Helms, Tobias, Hentschel, Julia, Popp, Denny, Jamra, Rami Abou
Publicado 2022

Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy

por Lieberwirth, Johann Kaspar, Joset, Pascal, Heinze, Anja, Hentschel, Julia, Stein, Anja, Iannaccone, Antonella, Steindl, Katharina, Kuechler, Alma, Abou Jamra, Rami
Publicado 2021

Ivacaftor Reduces Inflammatory Mediators in Upper Airway Lining Fluid From Cystic Fibrosis Patients With a G551D Mutation: Serial Non-Invasive Home-Based Collection of Upper Airway...

por Mainz, Jochen G., Arnold, Christin, Wittstock, Kara, Hipler, Uta-Christina, Lehmann, Thomas, Zagoya, Carlos, Duckstein, Franziska, Ellemunter, Helmut, Hentschel, Julia
Publicado 2021

The Posttraumatic Increase in the Adhesion of GPCR EMR2/ADGRE2 to Circulating Neutrophils Is Not Related to Injury Severity

por Zheng, Leyu, Rang, Moujie, Fuchs, Carolin, Keß, Annette, Wunsch, Mandy, Hentschel, Julia, Hsiao, Cheng-Chih, Kleber, Christian, Osterhoff, Georg, Aust, Gabriela
Publicado 2023

Pseudomonas aeruginosa Acquisition in Cystic Fibrosis Patients in Context of Otorhinolaryngological Surgery or Dentist Attendance: Case Series and Discussion of Preventive Concepts

por Mainz, Jochen G., Gerber, Andrea, Lorenz, Michael, Michl, Ruth, Hentschel, Julia, Nader, Anika, Beck, James F., Pletz, Mathias W., Mueller, Andreas H.
Publicado 2015

Divergent dynamics of inflammatory mediators and multiplex PCRs during airway infection in cystic fibrosis patients and healthy controls: Serial upper airway sampling by nasal lava...

por Erdmann, Nina, Schilling, Theresa, Hentschel, Julia, Lehmann, Thomas, von Bismarck, Philipp, Ankermann, Tobias, Duckstein, Franziska, Baier, Michael, Zagoya, Carlos, Mainz, Jochen G.
Publicado 2022

Changes of Proteases, Antiproteases, and Pathogens in Cystic Fibrosis Patients' Upper and Lower Airways after IV-Antibiotic Therapy

por Müller, Ulrike, Hentschel, Julia, Janhsen, Wibke K., Hünniger, Kerstin, Hipler, Uta-Christina, Sonnemann, Jürgen, Pfister, Wolfgang, Böer, Klas, Lehmann, Thomas, Mainz, Jochen G.
Publicado 2015

Dynamics of soluble and cellular inflammatory markers in nasal lavage obtained from Cystic Fibrosis patients during intravenous antibiotic treatment

por Hentschel, Julia, Jäger, Manuela, Beiersdorf, Natalie, Fischer, Nele, Doht, Franziska, Michl, Ruth K, Lehmann, Thomas, Markert, Udo R, Böer, Klas, Keller, Peter M, Pletz, Mathias W, Mainz, Jochen G
Publicado 2014

In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas

por Le Duc, Diana, Hentschel, Julia, Neuser, Sonja, Stiller, Mathias, Meier, Carolin, Jäger, Elisabeth, Abou Jamra, Rami, Platzer, Konrad, Monecke, Astrid, Ziemer, Mirjana, Markovic, Aleksander, Bläker, Hendrik, Lemke, Johannes R.
Publicado 2020

Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion

por Körner, Marek B., Velluva, Akhil, Bundalian, Linnaeus, Radtke, Maximilian, Lin, Chen-Ching, Zacher, Pia, Bartolomaeus, Tobias, Kirstein, Anna S., Mrestani, Achmed, Scholz, Nicole, Platzer, Konrad, Teichmann, Anne-Christin, Hentschel, Julia, Langenhan, Tobias, Lemke, Johannes R., Garten, Antje, Abou Jamra, Rami, Le Duc, Diana
Publicado 2022

The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals

por Zacher, Pia, Mayer, Thomas, Brandhoff, Frank, Bartolomaeus, Tobias, Le Duc, Diana, Finzel, Martin, Heinze, Anja, Horn, Susanne, Klöckner, Chiara, Körber, Gudrun, Hentschel, Julia, Kalita, Malgorzata, Krey, Ilona, Nastainczyk-Wulf, Marina, Platzer, Konrad, Rebstock, Johannes, Popp, Bernt, Stiller, Mathias, Teichmann, Anne-Christin, Jamra, Rami Abou, Lemke, Johannes R.
Publicado 2021

Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers

por Borde, Julika, Laitman, Yael, Blümcke, Britta, Niederacher, Dieter, Weber-Lassalle, Konstantin, Sutter, Christian, Rump, Andreas, Arnold, Norbert, Wang-Gohrke, Shan, Horváth, Judit, Gehrig, Andrea, Schmidt, Gunnar, Dutrannoy, Véronique, Ramser, Juliane, Hentschel, Julia, Meindl, Alfons, Schroeder, Christopher, Wappenschmidt, Barbara, Engel, Christoph, Kuchenbaecker, Karoline, Schmutzler, Rita K., Friedman, Eitan, Hahnen, Eric, Ernst, Corinna
Publicado 2022

Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer

por Rolfes, Muriel, Borde, Julika, Möllenhoff, Kathrin, Kayali, Mohamad, Ernst, Corinna, Gehrig, Andrea, Sutter, Christian, Ramser, Juliane, Niederacher, Dieter, Horváth, Judit, Arnold, Norbert, Meindl, Alfons, Auber, Bernd, Rump, Andreas, Wang-Gohrke, Shan, Ritter, Julia, Hentschel, Julia, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Rhiem, Kerstin, Engel, Christoph, Wappenschmidt, Barbara, Schmutzler, Rita K., Hahnen, Eric, Hauke, Jan
Publicado 2022

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

por Helbig, Katherine L., Hedrich, Ulrike B.S., Shinde, Deepali N., Krey, Ilona, Teichmann, Anne‐Christin, Hentschel, Julia, Schubert, Julian, Chamberlin, Adam C., Huether, Robert, Lu, Hsiao‐Mei, Alcaraz, Wendy A., Tang, Sha, Jungbluth, Chelsy, Dugan, Sarah L., Vainionpää, Leena, Karle, Kathrin N., Synofzik, Matthis, Schöls, Ludger, Schüle, Rebecca, Lehesjoki, Anna‐Elina, Helbig, Ingo, Lerche, Holger, Lemke, Johannes R.
Publicado 2016

GRIN2A-related disorders: genotype and functional consequence predict phenotype

por Strehlow, Vincent, Heyne, Henrike O, Vlaskamp, Danique R M, Marwick, Katie F M, Rudolf, Gabrielle, de Bellescize, Julitta, Biskup, Saskia, Brilstra, Eva H, Brouwer, Oebele F, Callenbach, Petra M C, Hentschel, Julia, Hirsch, Edouard, Kind, Peter C, Mignot, Cyril, Platzer, Konrad, Rump, Patrick, Skehel, Paul A, Wyllie, David J A, Hardingham, Giles E, van Ravenswaaij-Arts, Conny M A, Lesca, Gaetan, Lemke, Johannes R
Publicado 2019

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

por Bölsterli, Bigna K., Boltshauser, Eugen, Palmieri, Luigi, Spenger, Johannes, Brunner-Krainz, Michaela, Distelmaier, Felix, Freisinger, Peter, Geis, Tobias, Gropman, Andrea L., Häberle, Johannes, Hentschel, Julia, Jeandidier, Bruno, Karall, Daniela, Keren, Boris, Klabunde-Cherwon, Annick, Konstantopoulou, Vassiliki, Kottke, Raimund, Lasorsa, Francesco M., Makowski, Christine, Mignot, Cyril, O’Gorman Tuura, Ruth, Porcelli, Vito, Santer, René, Sen, Kuntal, Steinbrücker, Katja, Syrbe, Steffen, Wagner, Matias, Ziegler, Andreas, Zöggeler, Thomas, Mayr, Johannes A., Prokisch, Holger, Wortmann, Saskia B.
Publicado 2022