Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient

por Moradian, Negar, Zoghi, Samaneh, Rayzan, Elham, Seyedpour, Simin, Jimenez Heredia, Raul, Boztug, Kaan, Rezaei, Nima
Publicado 2023

VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data

por Müller, Heiko, Jimenez-Heredia, Raul, Krolo, Ana, Hirschmugl, Tatjana, Dmytrus, Jasmin, Boztug, Kaan, Bock, Christoph
Publicado 2017

ImmunExplorer (IMEX): a software framework for diversity and clonality analyses of immunoglobulins and T cell receptors on the basis of IMGT/HighV-QUEST preprocessed NGS data

por Schaller, Susanne, Weinberger, Johannes, Jimenez-Heredia, Raul, Danzer, Martin, Oberbauer, Rainer, Gabriel, Christian, Winkler, Stephan M.
Publicado 2015

Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor

por Poyer, Fiona, Jimenez Heredia, Raúl, Novak, Wolfgang, Zeitlhofer, Petra, Nebral, Karin, Dworzak, Michael N., Haas, Oskar A., Boztug, Kaan, Kager, Leo
Publicado 2022

An R307H substitution in GATA1 that prevents Ser310 phosphorylation causes severe fetal anemia

por Hetzer, Benjamin, Meryk, Andreas, Kropshofer, Gabriele, Bargehr, Caroline, Jimenez-Heredia, Raul, Boztug, Kaan, Mühlegger, Beatrix E., Dworzak, Michael, Gruber, Thomas, Crazzolara, Roman
Publicado 2022

Immune Repertoire Profiling Reveals that Clonally Expanded B and T Cells Infiltrating Diseased Human Kidneys Can Also Be Tracked in Blood

por Weinberger, Johannes, Jimenez-Heredia, Raul, Schaller, Susanne, Suessner, Susanne, Sunzenauer, Judith, Reindl-Schwaighofer, Roman, Weiss, Richard, Winkler, Stephan, Gabriel, Christian, Danzer, Martin, Oberbauer, Rainer
Publicado 2015

Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease‐causing mutations

por Kager, Leo, Jimenez Heredia, Raúl, Hirschmugl, Tatjana, Dmytrus, Jasmin, Krolo, Ana, Müller, Heiko, Bock, Christoph, Zeitlhofer, Petra, Dworzak, Michael, Mann, Georg, Holter, Wolfgang, Haas, Oskar, Boztug, Kaan
Publicado 2018

Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases

por Berner, Jakob, van de Wetering, Cheryl, Jimenez Heredia, Raul, Rashkova, Christina, Ferdinandusse, Sacha, Koster, Janet, Weiss, Johannes G., Frohne, Alexandra, Giuliani, Sarah, Waterham, Hans R., Castanon, Irinka, Brunner, Jürgen, Boztug, Kaan
Publicado 2023

Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation

por Thian, Marini, Hoeger, Birgit, Kamnev, Anton, Poyer, Fiona, Bal, Sevgi Köstel, Caldera, Michael, Jiménez-Heredia, Raúl, Huemer, Jakob, Pickl, Winfried F., Groß, Miriam, Ehl, Stephan, Lucas, Carrie L., Menche, Jörg, Hutter, Caroline, Attarbaschi, Andishe, Dupré, Loïc, Boztug, Kaan
Publicado 2020

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome

por Werren, Elizabeth, LaForce, Geneva, Srivastava, Anshika, Perillo, Delia, Johnson, Katherine, Berger, Brandon, Regan, Samantha, Pfennig, Christian, Baris, Safa, de Munnik, Sonja, Pfundt, Rolph, Hebbar, Malavika, Jimenez Heredia, Raul, Karakoc-Aydiner, Elif, Ozen, Ahmet, Dmytrus, Jasmin, Krolo, Ana, Corning, Ken, Prijoles, Eloise, Louie, Raymond, Lebel, Robert, Le, Thuy-Linh, Amiel, Jeanne, Gordon, Christopher, Boztug, Kaan, Girisha, Katta, Shukla, Anju, Bielas, Stephanie, Schaffer, Ashleigh
Publicado 2023

Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease

por Panzer, Marlene, Viveiros, André, Schaefer, Benedikt, Baumgartner, Nadja, Seppi, Klaus, Djamshidian, Atbin, Todorov, Theodor, Griffiths, William J. H., Schott, Eckart, Schuelke, Markus, Eurich, Dennis, Stättermayer, Albert Friedrich, Bomford, Adrian, Foskett, Pierre, Vodopiutz, Julia, Stauber, Rudolf, Pertler, Elke, Morell, Bernhard, Tilg, Herbert, Müller, Thomas, Kiechl, Stefan, Jimenez‐Heredia, Raul, Weiss, Karl Heinz, Hahn, Si Houn, Janecke, Andreas, Ferenci, Peter, Zoller, Heinz
Publicado 2022

Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation

por Shahin, Tala, Mayr, Daniel, Shoeb, Mohamed R., Kuehn, Hye Sun, Hoeger, Birgit, Giuliani, Sarah, Gawriyski, Lisa M., Petronczki, Özlem Yüce, Hadjadj, Jérôme, Bal, Sevgi Köstel, Zoghi, Samaneh, Haimel, Matthias, Jimenez Heredia, Raul, Boutboul, David, Triebwasser, Michael P., Rialland-Battisti, Fanny, Costedoat Chalumeau, Nathalie, Quartier, Pierre, Tangye, Stuart G., Fleisher, Thomas A., Rezaei, Nima, Romberg, Neil, Latour, Sylvain, Varjosalo, Markku, Halbritter, Florian, Rieux-Laucat, Frédéric, Castanon, Irinka, Rosenzweig, Sergio D., Boztug, Kaan
Publicado 2022