GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss
Melidis, Damianos P, Landgraf, Christian, Schmidt, Gunnar, Schöner-Heinisch, Anja, von Hardenberg, Sandra, Lesinski-Schiedat, Anke, Nejdl, Wolfgang, Auber, Bernd
Published in PLoS computational biology (01.09.2022)
Published in PLoS computational biology (01.09.2022)
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Journal Article
Biomarkers of DNA Damage Response Enable Flow Cytometry-Based Diagnostic to Identify Inborn DNA Repair Defects in Primary Immunodeficiencies
Felgentreff, Kerstin, Baumann, Ulrich, Klemann, Christian, Schuetz, Catharina, Viemann, Dorothee, Wetzke, Martin, Pannicke, Ulrich, von Hardenberg, Sandra, Auber, Bernd, Debatin, Klaus-Michael, Jacobsen, Eva-Maria, Hoenig, Manfred, Schulz, Ansgar, Schwarz, Klaus
Published in Journal of clinical immunology (01.02.2022)
Published in Journal of clinical immunology (01.02.2022)
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Journal Article
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency
Vavassori, Stefano, Chou, Janet, Faletti, Laura Eva, Haunerdinger, Veronika, Opitz, Lennart, Joset, Pascal, Fraser, Christopher J., Prader, Seraina, Gao, Xianfei, Schuch, Luise A., Wagner, Matias, Hoefele, Julia, Maccari, Maria Elena, Zhu, Ying, Elakis, George, Gabbett, Michael T., Forstner, Maria, Omran, Heymut, Kaiser, Thomas, Kessler, Christina, Olbrich, Heike, Frosk, Patrick, Almutairi, Abduarahman, Platt, Craig D., Elkins, Megan, Weeks, Sabrina, Rubin, Tamar, Planas, Raquel, Marchetti, Tommaso, Koovely, Danil, Klämbt, Verena, Soliman, Neveen A., von Hardenberg, Sandra, Klemann, Christian, Baumann, Ulrich, Lenz, Dominic, Klein-Franke, Andreas, Schwemmle, Martin, Huber, Michael, Sturm, Ekkehard, Hartleif, Steffen, Häffner, Karsten, Gimpel, Charlotte, Brotschi, Barbara, Laube, Guido, Güngör, Tayfun, Buckley, Michael F., Kottke, Raimund, Staufner, Christian, Hildebrandt, Friedhelm, Reu-Hofer, Simone, Moll, Solange, Weber, Achim, Kaur, Hundeep, Ehl, Stephan, Hiller, Sebastian, Geha, Raif, Roscioli, Tony, Griese, Matthias, Pachlopnik Schmid, Jana
Published in Journal of allergy and clinical immunology (01.08.2021)
Published in Journal of allergy and clinical immunology (01.08.2021)
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Journal Article
Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children
Schütz, Katharina, Schmidt, Axel, Schwerk, Nicolaus, Renz, Diane Miriam, Gerard, Benedicte, Schaefer, Elise, Antal, Maria Cristina, Peters, Sophia, Griese, Matthias, Rapp, Christina K., Engels, Hartmut, Cremer, Kirsten, Bergmann, Anke Katharina, Schmidt, Gunnar, Auber, Bernd, Kamp, Jan C., Laenger, Florian, Hardenberg, Sandra
Published in Pediatric pulmonology (01.11.2023)
Published in Pediatric pulmonology (01.11.2023)
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Journal Article
The Exception Proves the Rule: First Case of Tuberous Sclerosis-Related Pulmonary Lymphangioleiomyomatosis (LAM) in a Male Adolescent
Schütz, Katharina, Länger, Florian, Dingemann, Jens, Hardenberg, Sandra von, Scharff, Anna Zychlinsky, Renz, Diane, Welte, Tobias, Schwerk, Nicolaus
Published in Klinische Padiatrie (01.03.2023)
Published in Klinische Padiatrie (01.03.2023)
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Journal Article
Common Variable Immunodeficiency-Associated Cancers: The Role of Clinical Phenotypes, Immunological and Genetic Factors
Bruns, Luzia, Panagiota, Victoria, von Hardenberg, Sandra, Schmidt, Gunnar, Adriawan, Ignatius Ryan, Sogka, Eleni, Hirsch, Stefanie, Ahrenstorf, Gerrit, Witte, Torsten, Schmidt, Reinhold Ernst, Atschekzei, Faranaz, Sogkas, Georgios
Published in Frontiers in immunology (17.02.2022)
Published in Frontiers in immunology (17.02.2022)
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Journal Article
MicroRNA Profiles of Maternal and Neonatal Endothelial Progenitor Cells in Preeclampsia
Brodowski, Lars, Schröder-Heurich, Bianca, von Hardenberg, Sandra, Richter, Katja, von Kaisenberg, Constantin S., Dittrich-Breiholz, Oliver, Meyer, Nadia, Dörk, Thilo, von Versen-Höynck, Frauke
Published in International journal of molecular sciences (18.05.2021)
Published in International journal of molecular sciences (18.05.2021)
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Journal Article
JAK inhibitors to treat STAT3 gain-of-function: a single-center report and literature review
Atschekzei, Faranaz, Traidl, Stephan, Carlens, Julia, Schütz, Katharina, von Hardenberg, Sandra, Elsayed, Abdulwahab, Ernst, Diana, Risser, Linus, Thiele, Thea, Graalmann, Theresa, Raab, Juliana, Baumann, Ulrich, Witte, Torsten, Sogkas, Georgios
Published in Frontiers in immunology (2024)
Published in Frontiers in immunology (2024)
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Journal Article
A holistic approach to maximise diagnostic output in trio exome sequencing
von Hardenberg, Sandra, Wallaschek, Hannah, Du, Chen, Schmidt, Gunnar, Auber, Bernd
Published in Frontiers in pediatrics (19.05.2023)
Published in Frontiers in pediatrics (19.05.2023)
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Journal Article
Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases
Wan, Rensheng, Fänder, Johannes, Zakaraia, Ia, Lee-Kirsch, Min Ae, Wolf, Christine, Lucas, Nadja, Olfe, Lisa Isabel, Hendrich, Corinna, Jonigk, Danny, Holzinger, Dirk, Steindor, Mathis, Schmidt, Gunnar, Davenport, Claudia, Klemann, Christian, Schwerk, Nicolaus, Griese, Matthias, Schlegelberger, Brigitte, Stehling, Florian, Happle, Christine, Auber, Bernd, Steinemann, Doris, Wetzke, Martin, von Hardenberg, Sandra
Published in Frontiers in immunology (06.10.2022)
Published in Frontiers in immunology (06.10.2022)
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Journal Article
Systematic genetic analysis of pediatric patients with autoinflammatory diseases
Poker, Yvonne, von Hardenberg, Sandra, Hofmann, Winfried, Tang, Ming, Baumann, Ulrich, Schwerk, Nicolaus, Wetzke, Martin, Lindenthal, Viola, Auber, Bernd, Schlegelberger, Brigitte, Ott, Hagen, von Bismarck, Philipp, Viemann, Dorothee, Dressler, Frank, Klemann, Christian, Bergmann, Anke Katharina
Published in Frontiers in genetics (27.01.2023)
Published in Frontiers in genetics (27.01.2023)
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Journal Article
Current genetic diagnostics in inborn errors of immunity
von Hardenberg, Sandra, Klefenz, Isabel, Steinemann, Doris, Di Donato, Nataliya, Baumann, Ulrich, Auber, Bernd, Klemann, Christian
Published in Frontiers in pediatrics (10.04.2024)
Published in Frontiers in pediatrics (10.04.2024)
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Journal Article
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature
Strong, Alanna, Rao, Soumya, Hardenberg, Sandra, Li, Dong, Cox, Liza L., Lee, Paul C., Zhang, Li Q., Awotoye, Waheed, Diamond, Tamir, Gold, Jessica, Gooch, Catherine, Gowans, Lord Jephthah Joojo, Hakonarson, Hakon, Hing, Anne, Loomes, Kathleen, Martin, Nicole, Marazita, Mary L., Mononen, Tarja, Piccoli, David, Pfundt, Rolph, Raskin, Salmo, Scherer, Stephen W., Sobriera, Nara, Vaccaro, Courtney, Wang, Xiang, Watson, Deborah, Weksberg, Rosanna, Bhoj, Elizabeth, Murray, Jeffrey C., Lidral, Andrew C., Butali, Azeez, Buckley, Michael F., Roscioli, Tony, Koolen, David A., Seaver, Laurie H., Prows, Cynthia A., Stottmann, Rolf W., Cox, Timothy C.
Published in American journal of medical genetics. Part A (01.05.2023)
Published in American journal of medical genetics. Part A (01.05.2023)
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Journal Article
Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype
Staar, Ben O, Hegermann, Jan, Auber, Bernd, Ewen, Raphael, von Hardenberg, Sandra, Olmer, Ruth, Pink, Isabell, Rademacher, Jessica, Wetzke, Martin, Ringshausen, Felix C
Published in Cells (Basel, Switzerland) (01.11.2023)
Published in Cells (Basel, Switzerland) (01.11.2023)
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Journal Article
The transcription factor Bcl11b promotes both canonical and adaptive NK cell differentiation
Holmes, Tim D, Pandey, Ram Vinay, Helm, Eric Y, Schlums, Heinrich, Han, Hongya, Campbell, Tessa M, Drashansky, Theodore T, Chiang, Samuel, Wu, Cheng-Ying, Tao, Christine, Shoukier, Moneef, Tolosa, Eva, Von Hardenberg, Sandra, Sun, Miao, Klemann, Christian, Marsh, Rebecca A, Lau, Colleen M, Lin, Yin, Sun, Joseph C, Månsson, Robert, Cichocki, Frank, Avram, Dorina, Bryceson, Yenan T
Published in Science immunology (12.03.2021)
Published in Science immunology (12.03.2021)
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Journal Article
Preeclampsia-Associated Alteration of DNA Methylation in Fetal Endothelial Progenitor Cells
Brodowski, Lars, Zindler, Tristan, von Hardenberg, Sandra, Schröder-Heurich, Bianca, von Kaisenberg, Constantin S, Frieling, Helge, Hubel, Carl A, Dörk, Thilo, von Versen-Höynck, Frauke
Published in Frontiers in cell and developmental biology (2019)
Published in Frontiers in cell and developmental biology (2019)
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Journal Article
Phenotypic and pathomechanistic overlap between tapasin and TAP deficiencies
Elsayed, Abdulwahab, von Hardenberg, Sandra, Atschekzei, Faranaz, Graalmann, Theresa, Jänke, Christine, Witte, Torsten, Ringshausen, Felix C., Sogkas, Georgios
Published in Journal of allergy and clinical immunology (01.10.2024)
Published in Journal of allergy and clinical immunology (01.10.2024)
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Journal Article
Diagnostic genomic sequencing in critically ill children
Auber, Bernd, Schmidt, Gunnar, Du, Chen, von Hardenberg, Sandra
Published in Medizinische Genetik (27.06.2023)
Published in Medizinische Genetik (27.06.2023)
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