publications.bib

@article{maccari_activated_2023,
	title = {Activated Phosphoinositide 3-Kinase δ Syndrome: Update from the {ESID} Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity},
	issn = {0091-6749},
	url = {https://www.sciencedirect.com/science/article/pii/S0091674923008126},
	doi = {10.1016/j.jaci.2023.06.015},
	shorttitle = {Activated Phosphoinositide 3-Kinase δ Syndrome},
	abstract = {Background
Activated phosphoinositide-3-kinase ({PI}3K) δ Syndrome ({APDS}) is an inborn error of immunity ({IEI}) with infection susceptibility and immune dysregulation, clinically overlapping with other conditions. Management depends on disease evolution, but predictors of severe disease are lacking.
Objectives
Report the extended spectrum of disease manifestations in {APDS}1 versus {APDS}2, compare these to {CTLA}-4 deficiency, {NFκB}1 deficiency, and {STAT}3 gain-of-function ({GOF}) disease; identify predictors of severity in {APDS}.
Methods
Data collection with the European Society for Immunodeficiencies ({ESID})-{APDS} registry. Comparison with published cohorts of the other {IEIs}.
Results
The analysis of 170 {APDS} patients outlines high penetrance and early-onset of {APDS} compared to the other {IEIs}. The large clinical heterogeneity even in individuals with the same {PIK}3CD variant E1021K illustrates how poorly the genotype predicts the disease phenotype and course. The high clinical overlap between {APDS} and the other investigated {IEIs} suggests relevant pathophysiological convergence of the affected pathways. Preferentially affected organ systems indicate specific pathophysiology: bronchiectasis is typical of {APDS}1; interstitial lung disease and enteropathy are more common in {STAT}3 {GOF} and {CTLA}-4 deficiency. Endocrinopathies are most frequent in {STAT}3 {GOF}, but growth impairment is also common particularly in {APDS}2. Early clinical presentation is a risk factor for severe disease in {APDS}.
Conclusion
{APDS} illustrates how a single genetic variant can result in a diverse autoimmune-lymphoproliferative phenotype. Overlap with other {IEI} is substantial. Some specific features distinguish {APDS}1 from {APDS}2. Early-onset is a risk factor for severe disease course calling for specific treatment studies in younger patients.},
	journaltitle = {Journal of Allergy and Clinical Immunology},
	shortjournal = {Journal of Allergy and Clinical Immunology},
	author = {Maccari, Maria Elena and Wolkewitz, Martin and Schwab, Charlotte and Lorenzini, Tiziana and Leiding, Jennifer W. and Aladjdi, Nathalie and Abolhassani, Hassan and Abou-Chahla, Wadih and Aiuti, Alessandro and Azarnoush, Saba and Baris, Safa and Barlogis, Vincent and Barzaghi, Federica and Baumann, Ulrich and Bloomfield, Marketa and Bohynikova, Nadezda and Bodet, Damien and Boutboul, David and Bucciol, Giorgia and Buckland, Matthew S. and Burns, Siobhan O. and Cancrini, Caterina and Cathébras, Pascal and Cavazzana, Marina and Cheminant, Morgane and Chinello, Matteo and Ciznar, Peter and Coulter, Tanya I. and D’Aveni, Maud and Ekwall, Olov and Eric, Zelimir and Eren, Efrem and Fasth, Anders and Frange, Pierre and Fournier, Benjamin and Garcia-Prat, Marina and Gardembas, Martine and Geier, Christoph and Ghosh, Sujal and Goda, Vera and Hammarstrom, Lennart and Hauck, Fabian and Heeg, Maximilian and Heropolitanska-Pliszka, Edyta and Hilfanova, Anna and Jolles, Stephen and Karakoc-Aydiner, Elif and Kindle, Gerhard R. and Klemann, Christian and Koletsi, Patra and Koltan, Sylwia and Kondratenko, Irina and Körholz, Julia and Krüger, Renate and Jeziorski, Eric and Levy, Romain and Le Guenno, Guillaume and Lefevre, Guillaume and Lougaris, Vassilios and Marzollo, Antonio and Mahlaoui, Nizar and Malphettes, Marion and Meinhardt, Andrea and Merlin, Etienne and Meyts, Isabelle and Milota, Tomas and Moreira, Fernando and Moshous, Despina and Mukhina, Anna and Neth, Olaf and Neubert, Jennifer and Neven, Benedicte and Nieters, Alexandra and Nove-Josserand, Raphaele and Oksenhendler, Eric and Ozen, Ahmet and Olbrich, Peter and Perlat, Antoinette and Pac, Malgorzata and Schmid, Jana Pachlopnik and Pacillo, Lucia and Parra-Martinez, Alba and Paschenko, Olga and Pellier, Isabelle and Sefer, Asena Pinar and Plebani, Alessandro and Plantaz, Dominique and Prader, Seraina and Raffray, Loic and Ritterbusch, Henrike and Riviere, Jacques G. and Rivalta, Beatrice and Rusch, Stephan and Sakovich, Inga and Savic, Sinisa and Scheible, Raphael and Schleinitz, Nicolas and Schuetz, Catharina and Schulz, Ansgar and Sediva, Anna and Semeraro, Michaela and Sharapova, Svetlana O. and Shcherbina, Anna and Slatter, Mary A. and Sogkas, Georgios and Soler-Palacin, Pere and Speckmann, Carsten and Stephan, Jean-Louis and Suarez, Felipe and Tommasini, Alberto and Trück, Johannes and Uhlmann, Annette and van Aerde, Koen J. and van Montfrans, Joris and von Bernuth, Horst and Warnatz, Klaus and Williams, Tony and Worth, Austen {JJ}. and Ip, Winnie and Picard, Capucine and Catherinot, Emilie and Nademi, Zohreh and Grimbacher, Bodo and Forbes Satter, Lisa R. and Kracker, Sven and Chandra, Anita and Condliffe, Alison M. and Ehl, Stephan},
	urldate = {2023-07-01},
	date = {2023-06-28},
	langid = {english},
	keywords = {{APDS}, {CTLA}-4, {ESID}, {IEI}, immunodeficiency, {NFκB}1, {PI}3K, {PIK}3CD, {PIK}3R1, {STAT}3},
	file = {ScienceDirect Snapshot:C\:\\Users\\scheible\\Zotero\\storage\\6LHBZ4I8\\S0091674923008126.html:text/html},
}


@article{THALHAMMER2021,
title = {Initial presenting manifestations in 16,486 patients with Inborn Errors of Immunity include infections and non-infectious manifestations.},
journal = {Journal of Allergy and Clinical Immunology},
year = {2021},
issn = {0091-6749},
doi = {https://doi.org/10.1016/j.jaci.2021.04.015},
url = {https://www.sciencedirect.com/science/article/pii/S0091674921006540},
author = {Julian Thalhammer and Gerhard Kindle and Alexandra Nieters and Stephan Rusch and Mikko R.J. Seppänen and Alain Fischer and Bodo Grimbacher and David Edgar and Matthew Buckland and Nizar MAHLAOUI and Stephan Ehl and ESID Registry Working Party},
keywords = {Primary Immunodeficiency, inborn error of immunity, presenting symptom, immune dysregulation, autoimmune, inflammatory, syndromic, warning signs, registry}
}



@article{scheible_esid_2019,
    author = {Scheible, Raphael and Rusch, Stephan and Guzman, David and Mahlaoui, Nizar and Ehl, Stephan and Kindle, Gerhard},
    title = "{The NEW ESID Online Database Network}",
    journal = {Bioinformatics},
    year = {2019},
    month = {07},
    issn = {1367-4803},
    doi = {10.1093/bioinformatics/btz525},
    url = {https://doi.org/10.1093/bioinformatics/btz525}
}

@article{el-helou_german_2019,
	AUTHOR={El-Helou, Sabine M. and Biegner, Anika-Kerstin and Bode, Sebastian and Ehl, Stephan R. and Heeg, Maximilian and Maccari, Maria E. and Ritterbusch, Henrike and Speckmann, Carsten and Rusch, Stephan and Scheible, Raphael and Warnatz, Klaus and Atschekzei, Faranaz and Beider, Renata and Ernst, Diana and Gerschmann, Stev and Jablonka, Alexandra and Mielke, Gudrun and Schmidt, Reinhold E. and Schürmann, Gesine and Sogkas, Georgios and Baumann, Ulrich H. and Klemann, Christian and Viemann, Dorothee and von Bernuth, Horst and Krüger, Renate and Hanitsch, Leif G. and Scheibenbogen, Carmen M. and Wittke, Kirsten and Albert, Michael H. and Eichinger, Anna and Hauck, Fabian and Klein, Christoph and Rack-Hoch, Anita and Sollinger, Franz M. and Avila, Anne and Borte, Michael and Borte, Stephan and Fasshauer, Maria and Hauenherm, Anja and Kellner, Nils and Müller, Anna H. and Ülzen, Anett and Bader, Peter and Bakhtiar, Shahrzad and Lee, Jae-Yun and Heß, Ursula and Schubert, Ralf and Wölke, Sandra and Zielen, Stefan and Ghosh, Sujal and Laws, Hans-Juergen and Neubert, Jennifer and Oommen, Prasad T. and Hönig, Manfred and Schulz, Ansgar and Steinmann, Sandra and Schwarz, Klaus and Dückers, Gregor and Lamers, Beate and Langemeyer, Vanessa and Niehues, Tim and Shai, Sonu and Graf, Dagmar and Müglich, Carmen and Schmalzing, Marc T. and Schwaneck, Eva C. and Tony, Hans-Peter and Dirks, Johannes and Haase, Gabriele and Liese, Johannes G. and Morbach, Henner and Foell, Dirk and Hellige, Antje and Wittkowski, Helmut and Masjosthusmann, Katja and Mohr, Michael and Geberzahn, Linda and Hedrich, Christian M. and Müller, Christiane and Rösen-Wolff, Angela and Roesler, Joachim and Zimmermann, Antje and Behrends, Uta and Rieber, Nikolaus and Schauer, Uwe and Handgretinger, Rupert and Holzer, Ursula and Henes, Jörg and Kanz, Lothar and Boesecke, Christoph and Rockstroh, Jürgen K. and Schwarze-Zander, Carolynne and Wasmuth, Jan-Christian and Dilloo, Dagmar and Hülsmann, Brigitte and Schönberger, Stefan and Schreiber, Stefan and Zeuner, Rainald and Ankermann, Tobias and Bismarck, Philipp von and Huppertz, Hans-Iko and Kaiser-Labusch, Petra and Greil, Johann and Jakoby, Donate and Kulozik, Andreas E. and Metzler, Markus and Naumann-Bartsch, Nora and Sobik, Bettina and Graf, Norbert and Heine, Sabine and Kobbe, Robin and Lehmberg, Kai and Müller, Ingo and Herrmann, Friedrich and Horneff, Gerd and Klein, Ariane and Peitz, Joachim and Schmidt, Nadine and Bielack, Stefan and Groß-Wieltsch, Ute and Classen, Carl F. and Klasen, Jessica and Deutz, Peter and Kamitz, Dirk and Lassay, Lisa and Tenbrock, Klaus and Wagner, Norbert and Bernbeck, Benedikt and Brummel, Bastian and Lara-Villacanas, Eusebia and Münstermann, Esther and Schneider, Dominik T. and Tietsch, Nadine and Westkemper, Marco and Weiß, Michael and Kramm, Christof and Kühnle, Ingrid and Kullmann, Silke and Girschick, Hermann and Specker, Christof and Vinnemeier-Laubenthal, Elisabeth and Haenicke, Henriette and Schulz, Claudia and Schweigerer, Lothar and Müller, Thomas G. and Stiefel, Martina and Belohradsky, Bernd H. and Soetedjo, Veronika and Kindle, Gerhard and Grimbacher, Bodo},
	TITLE={The German National Registry of Primary Immunodeficiencies (2012–2017)},
	JOURNAL={Frontiers in Immunology},
	VOLUME={10},
	PAGES={1272},
	YEAR={2019},
	URL={https://www.frontiersin.org/article/10.3389/fimmu.2019.01272},
	DOI={10.3389/fimmu.2019.01272},
	ISSN={1664-3224}
}

@article{seidel_european_2019,
	title = {The European Society for Immunodeficiencies ({ESID}) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity},
	volume = {7},
	issn = {2213-2198},
	url = {http://www.sciencedirect.com/science/article/pii/S2213219819301680},
	doi = {10.1016/j.jaip.2019.02.004},
	pages = {1763--1770},
	number = {6},
	journaltitle = {The Journal of Allergy and Clinical Immunology: In Practice},
	shortjournal = {The Journal of Allergy and Clinical Immunology: In Practice},
	author = {Seidel, Markus G. and Kindle, Gerhard and Gathmann, Benjamin and Quinti, Isabella and Buckland, Matthew and van Montfrans, Joris and Scheible, Raphael and Rusch, Stephan and Gasteiger, Lukas M. and Grimbacher, Bodo and Mahlaoui, Nizar and Ehl, Stephan and {ESID Registry Working Party and collaborators}},
	urldate = {2019-07-23},
	date = {2019-07-01},
	keywords = {Classification, Consensus, Diagnostic algorithm, Epidemiology, Guideline, Primary immune deficiency and immune dysregulation disorder ({PIDD}), Primary immunodeficiency ({PID}), Registry},
	file = {ScienceDirect Snapshot:/home/scheiblr/Zotero/storage/NG9SL3DR/S2213219819301680.html:text/html}
}

@article{maccari_disease_2018,
	title = {Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase $\delta$ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase $\delta$ Syndrome Registry},
	volume = {9},
	issn = {1664-3224},
	doi = {10.3389/fimmu.2018.00543},
	shorttitle = {Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome},
	pages = {543},
	journaltitle = {Frontiers in Immunology},
	shortjournal = {Front Immunol},
	author = {Maccari, Maria Elena and Abolhassani, Hassan and Aghamohammadi, Asghar and Aiuti, Alessandro and Aleinikova, Olga and Bangs, Catherine and Baris, Safa and Barzaghi, Federica and Baxendale, Helen and Buckland, Matthew and Burns, Siobhan O. and Cancrini, Caterina and Cant, Andrew and Cathébras, Pascal and Cavazzana, Marina and Chandra, Anita and Conti, Francesca and Coulter, Tanya and Devlin, Lisa A. and Edgar, J. David M. and Faust, Saul and Fischer, Alain and Garcia-Prat, Marina and Hammarström, Lennart and Heeg, Maximilian and Jolles, Stephen and Karakoc-Aydiner, Elif and Kindle, Gerhard and Kiykim, Ayca and Kumararatne, Dinakantha and Grimbacher, Bodo and Longhurst, Hilary and Mahlaoui, Nizar and Milota, Tomas and Moreira, Fernando and Moshous, Despina and Mukhina, Anna and Neth, Olaf and Neven, Benedicte and Nieters, Alexandra and Olbrich, Peter and Ozen, Ahmet and Pachlopnik Schmid, Jana and Picard, Capucine and Prader, Seraina and Rae, William and Reichenbach, Janine and Rusch, Stephan and Savic, Sinisa and Scarselli, Alessia and Scheible, Raphael and Sediva, Anna and Sharapova, Svetlana O. and Shcherbina, Anna and Slatter, Mary and Soler-Palacin, Pere and Stanislas, Aurelie and Suarez, Felipe and Tucci, Francesca and Uhlmann, Annette and van Montfrans, Joris and Warnatz, Klaus and Williams, Anthony Peter and Wood, Phil and Kracker, Sven and Condliffe, Alison Mary and Ehl, Stephan},
	date = {2018},
	pmid = {29599784},
	pmcid = {PMC5863269},
	keywords = {activated phosphoinositide 3-kinase $\delta$ syndrome, natural history, {PIK}3CD, {PIK}3R1, rapamycin, registry},
	file = {Full Text:/home/scheiblr/Zotero/storage/JYET2WEG/Maccari et al. - 2018 - Disease Evolution and Response to Rapamycin in Act.pdf:application/pdf}
}


@article{hagele_diagnostic_2023,
	location = {Rochester, {NY}},
    date = {2023-12},
	title = {Diagnostic evaluation of pediatric autoimmune-lymphoproliferative immunodeficiencies (ALPID): A prospective cohort study},
    journaltitle = {Lancet Haematology},
    issn = {2352-3026},
	shorttitle = {Diagnostic Evaluation of Pediatricautoimmune-Lymphoproliferative Immunodeficiencies ({ALPID})},
    note = {in press},
	abstract = {Background: Lymphoproliferation and autoimmune cytopenias characterize autoimmune-lymphoproliferative syndrome ({ALPS}). Other conditions sharing these manifestations have been termed “{ALPS}-like”, although they are frequently more severe. Insufficient information on the genetic, clinical and immunological features of these disorders renders their diagnostic classification and treatment difficult.Methods: We performed a 14-year prospective study on 431 children referred for {ALPS} evaluation with lymphoproliferation and autoimmune cytopenia (n=236), lymphoproliferation and another sign of an inborn error of immunity ({SoIEI}) (n=148), or (bi)-autoimmune cytopenia and {SoIEI} (n=47). {ALPS} biomarkers were determined in all. Sequencing depth was recommended by the study team and {IEI} panel, exome or genome sequencing were performed as decided by the treating physician in 240 patients.Results: {ALPS} was diagnosed in 71 patients. {CD}38+{CD}45RA+ double negative T cells phenotyping did not outcompete {sFASL}/{vitaminB}12 as most predictive biomarkers. Fifty-four patients had mostly autosomal-dominant autoimmune-lymphoproliferative immunodeficiencies ({AD}-{ALPID}) affecting {JAK}/{STAT}, {CTLA}4/{LRBA}, {PI}3K, {NFkB} or {RAS} signaling. Sixteen patients had somatic mutations. Nineteen had other {IEI}, 17 other diagnoses and 79 no diagnosis despite extended genetics ({ALPID}-U). Multivariate clustering of clinical and laboratory manifestations did not discriminate {ALPID}-U from {AD}-{ALPID}, but {ALPID}-U patients had later onset and 80\% were male. Re-classification of patients fulfilling {CVID} or Evans syndrome criteria did not increase the proportion of genetic diagnoses.Conclusion: The {ALPID} phenotype defined here is enriched for patients with genetic diseases treatable with targeted therapies. The term {ALPID} may be useful to direct diagnostic and therapeutic efforts also for some children currently classified as {CVID} or Evans syndrome.Funding: This study was supported by the Deutsche Forschungsgemeinschaft under Germany’s Excellence Strategy ({CIBSS}—{EXC}-21899—Project {ID} 390939984; {SE}), the {SFB}1160 ({TPA}08) and the {BMBF}-funded German Auto-Immunity Network ({GAIN}), grant code 197 01GM1910A ({BG}, {SE}, {FH}). Ales Janda was supported by {ESID} fellowship Program. B.G. is funded by the Deutsche Forschungsgemeinschaft ({GR}1617/14-1/{iPAD}; {SFB}1160/2\_B5; {RESIST}–{EXC} 2155–Project {ID} 390874280; the {EU}-H2020-{MSCA}-{COFUND} {EURIdoc} programme (No. 101034170). Eleonora Gambinieri is funded by the Jeffrey Modell Foundation Specific Defect Research Grant (Autoimmune Cytopenias as ‘New warning sign’ of Primary Immunodeficiency Disorders). Jana Pachlopnik-Schmid received funding from the Clinical Research Priority Program {CYTIMM}-Z and the and the University Research Priority Program of the University of Zurich ({URPP}) {ITINERARE} – Innovative Therapies in Rare Diseases (University of Zurich, Switzerland) and the Swiss National Science Foundation grant 320030\_205097 (Berne, Switzerland). Julian Knight is supported by a Wellcome Trust Investigator Award (204969/Z/16/Z) ({JCK}), core funding to the Wellcome Centre for Human Genetics (090532/Z/09/Z, 203141/Z/16/Z). Marco Fischer was supported by the {IMM}-{PACT} Clinician Scientist Program, Faculty of Medicine, University of Freiburg. Maria Elena Maccari is supported by the {IMMediate} Advanced Clinician Scientist-Program, Department of Medicine {II}, Medical Center – University of Freiburg and Faculty of Medicine, University of Freiburg, funded by the Bundesministerium für Bildung und Forschung ({BMBF}, Federal Ministry of Education and Research) - 01EO2103. Markus Seidel is funded by the Styrian Children's Cancer Aid foundation. Michele Prioietti is funded by the Deutsche Forschungsgemeinschaft ({DFG}, German Research Foundation) under Germany’s Excellence Strategy — {EXC} 2155 — project number 390874280. Oliver Wegehaupt is {OW} is fellow of the {IMM}-{PACT}-Programme for Clinician Scientists, Department of Medicine {II}, Medical Center – University of Freiburg and Faculty of Medicine, University of Freiburg, funded by the Deutsche Forschungsgemeinschaft ({DFG}, German Research Foundation) – 413517907. Safa Baris is supported by a grant from Marmara University Scientific Research Project Coordination Unit ({ADT}-2022-10661).Declaration of Interest: Stephan Ehl and Jana Pachlopnik-Schmid are members of a {DMC} for Leniolisib (Pharming). Sophie Hambleton and Stephan Ehl received research funding from Pharming. Martin Armstrong is a full time employee of {UCB} Biopharma. Stephan Ehl received research support rom {UCB} for this study, including whole genome trio analysis of 30 families.Ethical Approval: The study was approved by the local {IRB} (No. 409/16). Informed consent was obtained from patients and/or their parents.},
	author = {Hägele, Pauline and Staus, Paulina and Scheible, Raphael and Uhlmann, Annette and Heeg, Maximilian and Klemann, Christian and Maccari, Maria Elena and Ritterbusch, Henrike and Armstrong, Martin and Cutcutache, Ioana and Elliott, Katherine S. and von Bernuth, Horst and Leahy, Timothy Ronan and Leyh, Jörg and Holzinger, Dirk and Lehmberg, Kai and Svec, Peter and Mashostjusmann, Katja and Hambleton, Sophie and Jakob, Marcus and Sparber-Sauer, Monika and Kager, Leo and Puzik, Alexander and Group, {ALPID} Study and Wolkewitz, Martin and Lorenz, Myriam Ricarda and Schwarz, Klaus and Speckmann, Carsten and Rensing-Ehl, Anne and Ehl, Stephan},
	urldate = {2023-07-17},
	langid = {english},
	keywords = {autoimmunity, biomarker, disease classification, genetic disease, immunodeficiency, Lymphoproliferation, splenomegaly},
	file = {Full Text PDF:C\:\\Users\\scheible\\Zotero\\storage\\ELZDHPPT\\Hägele et al. - 2023 - Diagnostic Evaluation of Pediatricautoimmune-Lymph.pdf:application/pdf},
}

@article{SCHEIBLE2023100588,
    title = {Json2Xlsx: Extraction and visualization of nested data in a sparse spreadsheet},
    journal = {Software Impacts},
    volume = {18},
    pages = {100588},
    year = {2023},
    issn = {2665-9638},
    doi = {https://doi.org/10.1016/j.simpa.2023.100588},
    url = {https://www.sciencedirect.com/science/article/pii/S2665963823001252},
    author = {Raphael Scheible and Stephan Rusch and Maria Elena Maccari and Markus G. Seidel and Stephan Ehl and Alexandra Nieters and Gerhard Kindle},
    keywords = {Medical informatics, Information systems, Data visualization},
    abstract = {Data extraction, visualization and distribution is an important task in the daily work of a database management team. In the medical field requests are often made by researchers who use spreadsheet programs such as Excel. Thus, we developed a framework which allows us to extract database tables with 1:N relations in a sparse spreadsheet which prevents redundant information. The Framework is implemented in PHP using a JSON interface. Further, we offer connectors for a direct connection to a Postgres database.}
}

@inproceedings{schlett_predicting_2021,
	title = {Predicting patients’ use of a web portal on back pain recommended by their general practitioner},
	rights = {This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 License.},
	doi = {10.3205/21dkvf275},
	pages = {Doc21dkvf275},
	publisher = {German Medical Science {GMS} Publishing House},
	author = {Schlett, Christian and Scheible, Raphael and Schöpf-Lazzarino, Andrea C. and Kampel, Nikolas and Boeker, Martin and Farin-Glattacker, Erik},
	date = {2021-09-27}
}

@inproceedings{strecker_usability_2022,
	title = {Usability Evaluation of a Modern Multilingual {MeSH} Browser},
	url = {https://ebooks.iospress.nl/doi/10.3233/SHTI220653},
	doi = {10.3233/SHTI220653},
	pages = {37--40},
	booktitle = {Advances in Informatics, Management and Technology in Healthcare},
    volume = {295},
	author = {Strecker, Philip and Boeker, Martin and Buechner, Simon and Scheible, Raphael},
	urldate = {2022-07-13},
	date = {2022},
	note = {Publisher: {IOS} Press},
	file = {Full Text PDF:C\:\\Users\\scheible\\Zotero\\storage\\H5B97RKI\\Strecker et al. - 2022 - Usability Evaluation of a Modern Multilingual MeSH.pdf:application/pdf;Snapshot:C\:\\Users\\scheible\\Zotero\\storage\\8Z2728ZL\\SHTI220653.html:text/html},
}

@incollection{scheible_multilingual_2022,
	title = {A Multilingual Browser Platform for Medical Subject Headings},
	url = {https://ebooks.iospress.nl/doi/10.3233/SHTI210939},
	pages = {384--387},
    volume = {289},
	booktitle = {Informatics and Technology in Clinical Care and Public Health},
	publisher = {{IOS} Press},
	author = {Scheible, Raphael and Strecker, Philip and Yazijy, Suhail and Thomczyk, Fabian and Talpa, Ruslan and Puhl, Andrea and Boeker, Martin},
	urldate = {2023-06-21},
	date = {2022},
	doi = {10.3233/SHTI210939},
	file = {Full Text PDF:C\:\\Users\\scheible\\Zotero\\storage\\ZNCN6NVH\\Scheible et al. - 2022 - A Multilingual Browser Platform for Medical Subjec.pdf:application/pdf},
}

@article{scheible_ahd2fhir_2022,
	title = {{AHD}2FHIR: A Tool for Mapping of Natural Language Annotations to Fast Healthcare Interoperability Resources - A Technical Case Report},
	volume = {290},
	issn = {1879-8365},
	doi = {10.3233/SHTI220026},
	shorttitle = {{AHD}2FHIR},
	abstract = {A significant portion of data in Electronic Health Records is only available as unstructured text, such as surgical or finding reports, clinical notes and discharge summaries. To use this data for secondary purposes, natural language processing ({NLP}) tools are required to extract structured information. Furthermore, for interoperable use, harmonization of the data is necessary. {HL}7 Fast Healthcare Interoperability Resources ({FHIR}), an emerging standard for exchanging healthcare data, defines such a structured format. For German-language medical {NLP}, the tool Averbis Health Discovery ({AHD}) represents a comprehensive solution. {AHD} offers a proprietary {REST} interface for text analysis pipelines. To build a bridge between {FHIR} and this interface, we created a service that translates the communication around {AHD} from and to {FHIR}. The application is available under an open source license.},
	pages = {32--36},
	journaltitle = {Studies in Health Technology and Informatics},
	shortjournal = {Stud Health Technol Inform},
	author = {Scheible, Raphael and Caliskan, Deniz and Fischer, Patrick and Thomczyk, Fabian and Zabka, Susanne and Schneider, Henning and Boeker, Martin and Schulz, Stefan and Prokosch, Hans-Ulrich and Gulden, Christian},
	date = {2022-06-06},
	pmid = {35672965},
	keywords = {Humans, {FHIR}, Electronic Health Records, Health Information Interoperability, Health Level Seven, Delivery of Health Care, Natural Language Processing, Language, {NLP}},
	file = {Full Text:C\:\\Users\\scheible\\Zotero\\storage\\YCJZ9242\\Scheible et al. - 2022 - AHD2FHIR A Tool for Mapping of Natural Language A.pdf:application/pdf},
}