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Browsing 7 Mathematisch-Naturwissenschaftliche Fakultät by Author

Browsing 7 Mathematisch-Naturwissenschaftliche Fakultät by Author "Admard, Jakob"

Now showing items 1-16 of 16

A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy

Figueroa, Karla P.; Gross, Caspar; Buena-Atienza, Elena; Paul, Sharan; Gandelman, Mandi; Kakar, Naseebullah; Sturm, Marc; Casadei, Nicolas; Admard, Jakob; Park, Joohyun; Zuehlke, Christine; Hellenbroich, Yorck; Pozojevic, Jelena; Balachandran, Saranya; Haendler, Kristian; Zittel, Simone; Timmann, Dagmar; Erdlenbruch, Friedrich; Herrmann, Laura; Feindt, Thomas; Zenker, Martin; Klopstock, Thomas; Dufke, Claudia; Scoles, Daniel R.; Koeppen, Arnulf; Spielmann, Malte; Riess, Olaf; Ossowski, Stephan; Haack, Tobias B.; Pulst, Stefan M. (2024)
Absence of Non-Canonical, Inhibitory MYD88 Splice Variants in B Cell Lymphomas Correlates With Sustained NF-kappa B Signaling

Gloria, Yamel Cardona; Bernhart, Stephan H.; Fillinger, Sven; Wolz, Olaf-Oliver; Dickhoefer, Sabine; Admard, Jakob; Ossowski, Stephan; Nahnsen, Sven; Siebert, Reiner; Weber, Alexander N. R. (2021)
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

Hengel, Holger; Hannan, Shabab B.; Dyack, Sarah; MacKay, Sara B.; Schatz, Ulrich; Fleger, Martin; Kurringer, Andreas; Balousha, Ghassan; Ghanim, Zaid; Alkuraya, Fowzan S.; Alzaidan, Hamad; Alsaif, Hessa S.; Mitani, Tadahiro; Bozdogan, Sevcan; Pehlivan, Davut; Lupski, James R.; Gleeson, Joseph J.; Dehghani, Mohammadreza; Mehrjardi, Mohammad Y., V; Sherr, Elliott H.; Parks, Kendall C.; Argilli, Emanuela; Begtrup, Amber; Galehdari, Hamid; Balousha, Osama; Shariati, Gholamreza; Mazaheri, Neda; Malamiri, Reza A.; Pagnamenta, Alistair T.; Kingston, Helen; Banka, Siddharth; Jackson, Adam; Osmond, Mathew; Riess, Angelika; Haack, Tobias B.; Naegele, Thomas; Schuster, Stefanie; Hauser, Stefan; Admard, Jakob; Casadei, Nicolas; Velic, Ana; Macek, Boris; Ossowski, Stephan; Houlden, Henry; Maroofian, Reza; Schoels, Ludger (2021)
Comparative targeting analysis of KLF1, BCL11A, and HBG1/2 in CD34(+) HSPCs by CRISPR/Cas9 for the induction of fetal hemoglobin

Lamsfus-Calle, Andres; Daniel-Moreno, Alberto; Antony, Justin S.; Epting, Thomas; Heumos, Lukas; Baskaran, Praveen; Admard, Jakob; Casadei, Nicolas; Latifi, Ngadhnjim; Siegmund, Darina M.; Kormann, Michael S. D.; Handgretinger, Rupert; Mezger, Markus (2020)
Comparative Transcriptional Profiling of Motor Neuron Disorder-Associated Genes in Various Human Cell Culture Models

Hauser, Stefan; Schuster, Stefanie; Heuten, Elena; Hoeflinger, Philip; Admard, Jakob; Schelling, Yvonne; Velic, Ana; Macek, Boris; Ossowski, Stephan; Schoels, Ludger (2020)
Comprehensive phenotyping revealed transient startle response reduction and histopathological gadolinium localization to perineuronal nets after gadodiamide administration in rats

Habermeyer, Johanna; Boyken, Janina; Harrer, Julia; Canneva, Fabio; Ratz, Veronika; Moceri, Sandra; Admard, Jakob; Casadei, Nicolas; Jost, Gregor; Baeuerle, Tobias; Frenzel, Thomas; Schmitz, Christoph; Schuetz, Gunnar; Pietsch, Hubertus; von Hoersten, Stephan (2020)
Detection of circulating cell-free HPV DNA of 13 HPV types for patients with cervical cancer as potential biomarker to monitor therapy response and to detect relapse

Mittelstadt, Suzana; Kelemen, Olga; Admard, Jakob; Gschwind, Axel; Koch, Andre; Woerz, Sarah; Oberlechner, Ernst; Engler, Tobias; Bonzheim, Irina; Staebler, Annette; Weidner, Nicola; Stubenrauch, Frank; Iftner, Thomas; Riess, Olaf; Schroeder, Christopher; Kommoss, Stefan; Ossowski, Stephan (2023)
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

Weisschuh, Nicole; Mazzola, Pascale; Zuleger, Theresia; Schaeferhoff, Karin; Kuehlewein, Laura; Kortuem, Friederike; Witt, Dennis; Liebmann, Alexandra; Falb, Ruth; Pohl, Lisa; Reith, Milda; Stuehn, Lara G.; Bertrand, Miriam; Mueller, Amelie; Casadei, Nicolas; Kelemen, Olga; Kelbsch, Carina; Kernstock, Christoph; Richter, Paul; Sadler, Francoise; Demidov, German; Schuetz, Leon; Admard, Jakob; Sturm, Marc; Grasshoff, Ute; Tonagel, Felix; Heinrich, Tilman; Nasser, Fadi; Wissinger, Bernd; Ossowski, Stephan; Kohl, Susanne; Riess, Olaf; Stingl, Katarina; Haack, Tobias B. (2024)
Dynamics of cell-free tumour DNA correlate with treatment response of head and neck cancer patients receiving radiochemotherapy

Hilke, Franz J.; Muyas, Francesc; Admard, Jakob; Kootz, Beate; Nann, Dominik; Welz, Stefan; Riess, Olaf; Zips, Daniel; Ossowski, Stephan; Schroeder, Christopher; Clasen, Kerstin (2020)
Genomes in clinical care

Riess, Olaf; Sturm, Marc; Menden, Benita; Liebmann, Alexandra; Demidov, German; Witt, Dennis; Casadei, Nicolas; Admard, Jakob; Schuetz, Leon; Ossowski, Stephan; Taylor, Stacie; Schaffer, Sven; Schroeder, Christopher; Dufke, Andreas; Haack, Tobias (2024)
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; van Os, Nienke J. H.; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Huu Phuc Nguyen; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; van de Warrenburg, Bart; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schoels, Ludger; Houlden, Henry; Haack, Tobias B.; Hengel, Holger (2022)
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

Niggl, Eva; Bouman, Arjan; Briere, Lauren C.; Hoogenboezem, Remco M.; Wallaard, Ilse; Park, Joohyun; Admard, Jakob; Wilke, Martina; Harris-Mostert, Emilio D. R. O.; Elgersma, Minetta; Bain, Jennifer; Balasubramanian, Meena; Banka, Siddharth; Benke, Paul J.; Bertrand, Miriam; Blesson, Alyssa E.; Clayton-Smith, Jill; Ellingford, Jamie M.; Gillentine, Madelyn A.; Goodloe, Dana H.; Haack, Tobias B.; Jain, Mahim; Krantz, Ian; Luu, Sharon M.; McPheron, Molly; Muss, Candace L.; Raible, Sarah E.; Robin, Nathaniel H.; Spiller, Michael; Starling, Susan; Sweetser, David A.; Thiffault, Isabelle; Vetrini, Francesco; Witt, Dennis; Woods, Emily; Genomics England Res Consortium, Ype; Undiagnosed Dis Network, Annelot C. M. van; Elgersma, Ype; van Esbroeck, Annelot C. M. (2023)
Human Dopaminergic Neurons Lacking PINK1 Exhibit Disrupted Dopamine Metabolism Related to Vitamin B6 Co-Factors

Bus, Christine; Zizmare, Laimdota; Feldkaemper, Marita; Geisler, Sven; Zarani, Maria; Schaedler, Anna; Klose, Franziska; Admard, Jakob; Mageean, Craig J.; Arena, Giuseppe; Fallier-Becker, Petra; Ugun-Klusek, Aslihan; Maruszczak, Klaudia K.; Kapolou, Konstantina; Schmid, Benjamin; Rapaport, Doron; Ueffing, Marius; Casadei, Nicolas; Kruger, Rejko; Gasser, Thomas; Weisenhorn, Daniela M. Vogt; Kahle, Philipp J.; Trautwein, Christoph; Gloeckner, Christian J.; Fitzgerald, Julia C. (2020)
Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patients

Menzel, Michael; Ossowski, Stephan; Kral, Sebastian; Metzger, Patrick; Horak, Peter; Marienfeld, Ralf; Boerries, Melanie; Wolter, Steffen; Ball, Markus; Neumann, Olaf; Armeanu-Ebinger, Sorin; Schroeder, Christopher; Matysiak, Uta; Goldschmid, Hannah; Schipperges, Vincent; Fuerstberger, Axel; Allgaeuer, Michael; Eberhardt, Timo; Niewoehner, Jakob; Blaumeiser, Andreas; Ploeger, Carolin; Haack, Tobias Bernd; Tay, Timothy Kwang Yong; Kelemen, Olga; Pauli, Thomas; Kirchner, Martina; Kluck, Klaus; Ott, Alexander; Renner, Marcus; Admard, Jakob; Gschwind, Axel; Lassmann, Silke; Kestler, Hans; Fend, Falko; Illert, Anna Lena; Werner, Martin; Moeller, Peter; Seufferlein, Thomas Theodor Werner; Malek, Nisar; Schirmacher, Peter; Froehling, Stefan; Kazdal, Daniel; Budczies, Jan; Stenzinger, Albrecht (2023)
Overexpression of human alpha-Synuclein leads to dysregulated microbiome/metabolites with ageing in a rat model of Parkinson disease

Singh, Yogesh; Trautwein, Christoph; Romani, Joan; Salker, Madhuri S. S.; Neckel, Peter H. H.; Fraccaroli, Isabel; Abeditashi, Mahkameh; Woerner, Nils; Admard, Jakob; Dhariwal, Achal; Dueholm, Morten K. D.; Schaefer, Karl-Herbert; Lang, Florian; Otzen, Daniel E. E.; Lashuel, Hilal A. A.; Riess, Olaf; Casadei, Nicolas (2023)
PET/MRI and genetic intrapatient heterogeneity in head and neck cancers

Clasen, Kerstin; Leibfarth, Sara; Hilke, Franz J.; Admard, Jakob; Winter, Rene M.; Welz, Stefan; Gatidis, Sergios; Nann, Dominik; Ossowski, Stephan; Breuer, Thomas; la Fougere, Christian; Nikolaou, Konstantin; Riess, Olaf; Zips, Daniel; Schroeder, Christopher; Thorwarth, Daniela (2020)

Now showing items 1-16 of 16

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