Literature DB >> 32389282

Supplementation of the ESID registry working definitions for the clinical diagnosis of inborn errors of immunity with encoded human phenotype ontology (HPO) terms.

Lukas M Gasteiger1, Peter N Robinson2, Julia Pazmandi3, Kaan Boztug3, Mikko R J Seppänen4, Markus G Seidel5.   

Abstract

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Year:  2020        PMID： 32389282      PMCID： PMC9393911          DOI： 10.1016/j.jaip.2020.02.019

Source DB:  PubMed          Journal:  J Allergy Clin Immunol Pract


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  5 in total

Review 1.  Harmonising phenomics information for a better interoperability in the rare disease field.

Authors:  Sylvie Maiella; Annie Olry; Marc Hanauer; Valérie Lanneau; Halima Lourghi; Bruno Donadille; Charlotte Rodwell; Sebastian Köhler; Dominik Seelow; Simon Jupp; Helen Parkinson; Tudor Groza; Michael Brudno; Peter N Robinson; Ana Rath
Journal:  Eur J Med Genet       Date:  2018-02-07       Impact factor: 2.708

2.  The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.

Authors:  Markus G Seidel; Gerhard Kindle; Benjamin Gathmann; Isabella Quinti; Matthew Buckland; Joris van Montfrans; Raphael Scheible; Stephan Rusch; Lukas M Gasteiger; Bodo Grimbacher; Nizar Mahlaoui; Stephan Ehl
Journal:  J Allergy Clin Immunol Pract       Date:  2019-02-15

3.  The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.

Authors:  Peter N Robinson; Sebastian Köhler; Sebastian Bauer; Dominik Seelow; Denise Horn; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2008-10-23       Impact factor: 11.025

4.  Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Authors:  Sebastian Köhler; Leigh Carmody; Nicole Vasilevsky; Julius O B Jacobsen; Daniel Danis; Jean-Philippe Gourdine; Michael Gargano; Nomi L Harris; Nicolas Matentzoglu; Julie A McMurry; David Osumi-Sutherland; Valentina Cipriani; James P Balhoff; Tom Conlin; Hannah Blau; Gareth Baynam; Richard Palmer; Dylan Gratian; Hugh Dawkins; Michael Segal; Anna C Jansen; Ahmed Muaz; Willie H Chang; Jenna Bergerson; Stanley J F Laulederkind; Zafer Yüksel; Sergi Beltran; Alexandra F Freeman; Panagiotis I Sergouniotis; Daniel Durkin; Andrea L Storm; Marc Hanauer; Michael Brudno; Susan M Bello; Murat Sincan; Kayli Rageth; Matthew T Wheeler; Renske Oegema; Halima Lourghi; Maria G Della Rocca; Rachel Thompson; Francisco Castellanos; James Priest; Charlotte Cunningham-Rundles; Ayushi Hegde; Ruth C Lovering; Catherine Hajek; Annie Olry; Luigi Notarangelo; Morgan Similuk; Xingmin A Zhang; David Gómez-Andrés; Hanns Lochmüller; Hélène Dollfus; Sergio Rosenzweig; Shruti Marwaha; Ana Rath; Kathleen Sullivan; Cynthia Smith; Joshua D Milner; Dorothée Leroux; Cornelius F Boerkoel; Amy Klion; Melody C Carter; Tudor Groza; Damian Smedley; Melissa A Haendel; Chris Mungall; Peter N Robinson
Journal:  Nucleic Acids Res       Date:  2019-01-08       Impact factor: 16.971

5.  Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.

Authors:  Stuart G Tangye; Waleed Al-Herz; Aziz Bousfiha; Talal Chatila; Charlotte Cunningham-Rundles; Amos Etzioni; Jose Luis Franco; Steven M Holland; Christoph Klein; Tomohiro Morio; Hans D Ochs; Eric Oksenhendler; Capucine Picard; Jennifer Puck; Troy R Torgerson; Jean-Laurent Casanova; Kathleen E Sullivan
Journal:  J Clin Immunol       Date:  2020-01-17       Impact factor: 8.317
  5 in total
  4 in total

Review 1.  Artificial intelligence and the hunt for immunological disorders.

Authors:  Nicholas L Rider; Renganathan Srinivasan; Paneez Khoury
Journal:  Curr Opin Allergy Clin Immunol       Date:  2020-12

2.  Abnormal cranium development in children and adolescents affected by syndromes or diseases associated with neurodysfunction.

Authors:  Agnieszka Guzik; Lidia Perenc; Mariusz Drużbicki; Justyna Podgórska-Bednarz
Journal:  Sci Rep       Date:  2021-02-03       Impact factor: 4.379

3.  The Immune Deficiency and Dysregulation Activity (IDDA2.1 'Kaleidoscope') Score and Other Clinical Measures in Inborn Errors of Immunity.

Authors:  Markus G Seidel; Victoria K Tesch; Linlin Yang; Fabian Hauck; Anna Lena Horn; Maria Anna Smolle; Franz Quehenberger; Martin Benesch
Journal:  J Clin Immunol       Date:  2021-11-19       Impact factor: 8.542

4.  Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.

Authors:  Matthias Haimel; Julia Pazmandi; Raúl Jiménez Heredia; Jasmin Dmytrus; Sevgi Köstel Bal; Samaneh Zoghi; Paul van Daele; Tracy A Briggs; Carine Wouters; Brigitte Bader-Meunier; Florence A Aeschlimann; Roberta Caorsi; Despina Eleftheriou; Esther Hoppenreijs; Elisabeth Salzer; Shahrzad Bakhtiar; Beata Derfalvi; Francesco Saettini; Maaike A A Kusters; Reem Elfeky; Johannes Trück; Jacques G Rivière; Mirjam van der Burg; Marco Gattorno; Markus G Seidel; Siobhan Burns; Klaus Warnatz; Fabian Hauck; Paul Brogan; Kimberly C Gilmour; Catharina Schuetz; Anna Simon; Christoph Bock; Sophie Hambleton; Esther de Vries; Peter N Robinson; Marielle van Gijn; Kaan Boztug
Journal:  J Allergy Clin Immunol       Date:  2021-05-12       Impact factor: 14.290
  4 in total

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