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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.
Published in:
Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.869047
By:
- Poyer, Fiona;
- Jimenez Heredia, Raúl;
- Novak, Wolfgang;
- Zeitlhofer, Petra;
- Nebral, Karin;
- Dworzak, Michael N.;
- Haas, Oskar A.;
- Boztug, Kaan;
- Kager, Leo
Publication type:
Article
VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.
Published in:
Nucleic Acids Research, 2017, v. 45, n. W1, p. W567, doi. 10.1093/nar/gkx425
By:
- Müller, Heiko;
- Jimenez-Heredia, Raul;
- Krolo, Ana;
- Hirschmugl, Tatjana;
- Dmytrus, Jasmin;
- Boztug, Kaan;
- Bock, Christoph
Publication type:
Article
Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3.
Published in:
British Journal of Haematology, 2023, v. 203, n. 4, p. 678, doi. 10.1111/bjh.19061
By:
- Novak, Wolfgang;
- Berner, Jakob;
- Svaton, Michael;
- Jimenez‐Heredia, Raul;
- Segarra‐Roca, Anna;
- Frohne, Alexandra;
- Guiliani, Sarah;
- Rouhani, David;
- Eder, Sebastian K.;
- Rottal, Arno;
- Trapin, Doris;
- Scheuchenstuhl, Anja;
- Pickl, Winfried F.;
- Simonitsch‐Klupp, Ingrid;
- Kager, Leo;
- Boztug, Kaan
Publication type:
Article
Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease‐causing mutations.
Published in:
British Journal of Haematology, 2018, v. 182, n. 2, p. 251, doi. 10.1111/bjh.15389
By:
- 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
Publication type:
Article
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45948-y
By:
- Werren, Elizabeth A.;
- LaForce, Geneva R.;
- Srivastava, Anshika;
- Perillo, Delia R.;
- Li, Shaokun;
- Johnson, Katherine;
- Baris, Safa;
- Berger, Brandon;
- Regan, Samantha L.;
- Pfennig, Christian D.;
- de Munnik, Sonja;
- Pfundt, Rolph;
- Hebbar, Malavika;
- Jimenez-Heredia, Raúl;
- Karakoc-Aydiner, Elif;
- Ozen, Ahmet;
- Dmytrus, Jasmin;
- Krolo, Ana;
- Corning, Ken;
- Prijoles, E. J.
Publication type:
Article
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45948-y
By:
- Werren, Elizabeth A.;
- LaForce, Geneva R.;
- Srivastava, Anshika;
- Perillo, Delia R.;
- Li, Shaokun;
- Johnson, Katherine;
- Baris, Safa;
- Berger, Brandon;
- Regan, Samantha L.;
- Pfennig, Christian D.;
- de Munnik, Sonja;
- Pfundt, Rolph;
- Hebbar, Malavika;
- Jimenez-Heredia, Raúl;
- Karakoc-Aydiner, Elif;
- Ozen, Ahmet;
- Dmytrus, Jasmin;
- Krolo, Ana;
- Corning, Ken;
- Prijoles, E. J.
Publication type:
Article
Immune Repertoire Profiling Reveals that Clonally Expanded B and T Cells Infiltrating Diseased Human Kidneys Can Also Be Tracked in Blood.
Published in:
PLoS ONE, 2015, v. 10, n. 11, p. 1, doi. 10.1371/journal.pone.0143125
By:
- Weinberger, Johannes;
- Jimenez-Heredia, Raul;
- Schaller, Susanne;
- Suessner, Susanne;
- Sunzenauer, Judith;
- Reindl-Schwaighofer, Roman;
- Weiss, Richard;
- Winkler, Stephan;
- Gabriel, Christian;
- Danzer, Martin;
- Oberbauer, Rainer
Publication type:
Article
Polymerase-δ-deficiency as a novel cause of inborn cancer predisposition associated with human papillomavirus infection.
Published in:
British Journal of Dermatology, 2023, v. 188, n. 5, p. 684, doi. 10.1093/bjd/ljad021
By:
- Strobl, Johanna;
- Huber, Bettina;
- Heredia, Raul Jimenez;
- Kirnbauer, Reinhard;
- Boztug, Kaan;
- Stary, Georg
Publication type:
Article
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.
Published in:
BMC Bioinformatics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12859-015-0687-9
By:
- Schaller, Susanne;
- Weinberger, Johannes;
- Jimenez-Heredia, Raul;
- Danzer, Martin;
- Oberbauer, Rainer;
- Gabriel, Christian;
- Winkler, Stephan M.
Publication type:
Article
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.
Published in:
BMC Bioinformatics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12859-015-0687-9
By:
- Schaller, Susanne;
- Weinberger, Johannes;
- Jimenez-Heredia, Raul;
- Danzer, Martin;
- Oberbauer, Rainer;
- Gabriel, Christian;
- Winkler, Stephan M.
Publication type:
Article
Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 3, p. 582, doi. 10.1007/s10875-021-01176-3
By:
- Surucu Yilmaz, Naz;
- Bilgic Eltan, Sevgi;
- Kayaoglu, Basak;
- Geckin, Busranur;
- Heredia, Raul Jimenez;
- Sefer, Asena Pinar;
- Kiykim, Ayca;
- Nain, Ercan;
- Kasap, Nurhan;
- Dogru, Omer;
- Yucelten, Ayse Deniz;
- Cinel, Leyla;
- Karasu, Gulsun;
- Yesilipek, Akif;
- Sozeri, Betul;
- Kaya, Goksu Gokberk;
- Yilmaz, Ismail Cem;
- Baydemir, Ilayda;
- Aydin, Yagmur;
- Cansen Kahraman, Deniz
Publication type:
Article
Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency.
Published in:
Journal of Clinical Immunology, 2021, v. 41, n. 6, p. 1272, doi. 10.1007/s10875-021-01031-5
By:
- Cagdas, Deniz;
- Mayr, Daniel;
- Baris, Safa;
- Worley, Lisa;
- Langley, David B.;
- Metin, Ayse;
- Aytekin, Elif Soyak;
- Atan, Raziye;
- Kasap, Nurhan;
- Bal, Sevgi Köstel;
- Dmytrus, Jasmin;
- Heredia, Raul Jimenez;
- Karasu, Gulsun;
- Torun, Selda Hancerli;
- Toyran, Muge;
- Karakoc-Aydiner, Elif;
- Christ, Daniel;
- Kuskonmaz, Baris;
- Uçkan-Çetinkaya, Duygu;
- Uner, Aysegul
Publication type:
Article
Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis.
Published in:
Journal of Clinical Immunology, 2021, v. 41, n. 1, p. 59, doi. 10.1007/s10875-020-00878-4
By:
- Yucel, Esra;
- Karakus, Ibrahim Serhat;
- Krolo, Ana;
- Kiykim, Ayca;
- Heredia, Raul Jimenez;
- Tamay, Zeynep;
- Cipe, Funda Erol;
- Karakoc-Aydiner, Elif;
- Ozen, Ahmet;
- Karaman, Serap;
- Boztug, Kaan;
- Baris, Safa
Publication type:
Article
Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient—Addendum to the Genotype-Phenotype Puzzle.
Published in:
2020
By:
- Göschl, Lisa;
- Winkler, Stefan;
- Dmytrus, Jasmin;
- Heredia, Raul Jimenez;
- Lagler, Heimo;
- Ramharter, Michael;
- Scheinecker, Clemens;
- Bonelli, Michael;
- Schmetterer, Klaus;
- Pickl, Winfried F.;
- Grabmeier-Pfistershammer, Katharina;
- Hershfield, Michael S.;
- Boztug, Kaan;
- Förster-Waldl, Elisabeth;
- Gualdoni, Guido A.
Publication type:
Letter
A novel homozygous RAG1 mutation is associated with severe combined immunodeficiency and neurological presentations.
Published in:
Allergologia & Immunopathologia, 2021, v. 49, n. 4, p. 91, doi. 10.15586/aei.v49i4.194
By:
- Shafeghat, Melika;
- Esmaeilzadeh, Hossein;
- Sadeghalvad, Mona;
- Rayzan, Elham;
- Zoghi, Samaneh;
- Shahkarami, Sepideh;
- Heredia, Raul Jimenez;
- Krolo, Ana;
- Boztug, Kaan;
- Rezaei, Nima
Publication type:
Article
Novel BTK mutation in X-linked agammaglobulinemia: Report of a 17-year-old male.
Published in:
Allergologia & Immunopathologia, 2021, v. 49, n. 2, p. 80, doi. 10.15586/aei.v49i2.62
By:
- Shaka, Zoha;
- Mojtabavi, Helia;
- Rayzan, Elham;
- Zoghi, Samaneh;
- Shahkarami, Sepideh;
- Raul, Jimenez Heredia;
- Sedighi, Iraj;
- Boztug, Kaan;
- Rezaei, Nima
Publication type:
Article
Evolution and long‐term outcomes of combined immunodeficiency due to CARMIL2 deficiency.
Published in:
Allergy, 2022, v. 77, n. 3, p. 1004, doi. 10.1111/all.15010
By:
- Kolukisa, Burcu;
- Baser, Dilek;
- Akcam, Bengu;
- Danielson, Jeffrey;
- Bilgic Eltan, Sevgi;
- Haliloglu, Yesim;
- Sefer, Asena Pinar;
- Babayeva, Royale;
- Akgun, Gamze;
- Charbonnier, Louis‐Marie;
- Schmitz‐Abe, Klaus;
- Kendir Demirkol, Yasemin;
- Zhang, Yu;
- Gonzaga‐Jauregui, Claudia;
- Jimenez Heredia, Raul;
- Kasap, Nurhan;
- Kiykim, Ayca;
- Ozek Yucel, Esra;
- Gok, Veysel;
- Unal, Ekrem
Publication type:
Article
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient.
Published in:
Allergy, Asthma & Clinical Immunology, 2023, v. 19, n. 1, p. 1, doi. 10.1186/s13223-023-00804-4
By:
- Moradian, Negar;
- Zoghi, Samaneh;
- Rayzan, Elham;
- Seyedpour, Simin;
- Jimenez Heredia, Raul;
- Boztug, Kaan;
- Rezaei, Nima
Publication type:
Article

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