Author details

Full Name

Julia Pazmandi

Affiliation

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases

ORCID

Career Start Year

2014

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
33991581	Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.	J Allergy Clin Immunol	2022
35297030	[Chronic or severe enteropathy and immunodeficiency: be prepared for a rara avis].	Z Gastroenterol	2022
33264411	The Human Phenotype Ontology in 2021.	Nucleic Acids Res	2021
33513601	RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis.	Blood	2021
33893283	The VRNetzer platform enables interactive network analysis in Virtual Reality.	Nat Commun	2021
31581173	Rheumatological manifestations in inborn errors of immunity.	Pediatr Res	2020
32389282	Supplementation of the ESID registry working definitions for the clinical diagnosis of inborn errors of immunity with encoded human phenotype ontology (HPO) terms.	J Allergy Clin Immunol Pract	2020
30565237	Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms.	Immunol Rev	2019
30822429	F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.	J Allergy Clin Immunol	2019
30247799	C5aR1 interacts with TLR2 in osteoblasts and stimulates the osteoclast-inducing chemokine CXCL10.	J Cell Mol Med	2018
25210767	Common genetic variants of the human steroid 21-hydroxylase gene (CYP21A2) are related to differences in circulating hormone levels.	PLoS One	2014

1 - 11 of 11

Vincent A Laufer

University of Alabama at Birmingham

Career Start Year 2016

Number of shared co-authors 0

Eleanor G Seaby

University of Southampton

Career Start Year 2014

Number of shared co-authors 2

Paulo Czarnewski

Karolinska Institute, Center for Molecular Medicine

Career Start Year 2012

Number of shared co-authors 0

Jenna R E Bergerson

National Institute of Allergy and Infectious Diseases, National Institutes of Health

Career Start Year 2011

Number of shared co-authors 15

Alexandre Bolze

The Rockefeller University

Career Start Year 2010

Number of shared co-authors 0

Leah C Kottyan

Cincinnati Children's Hospital Medical Center

Career Start Year 2009

Number of shared co-authors 1

Vinod Kumar

The University of Queensland

Career Start Year 2008

Number of shared co-authors 0

David Langlais

McGill University

Career Start Year 2008

Number of shared co-authors 2

Carl A Anderson

Wellcome Sanger Institute

Career Start Year 2006

Number of shared co-authors 3

Andre Franke

Institute of Clinical Molecular Biology, Kiel University

Career Start Year 2005

Number of shared co-authors 5

Andreas Till

University Hospital Bonn

Career Start Year 2004

Number of shared co-authors 0

Mathieu Bourgey

McGill University

Career Start Year 2004

Number of shared co-authors 2

Steven J Schrodi

University of Wisconsin Madison

Career Start Year 2004

Number of shared co-authors 0

Michele Nehrebecky

National Human Genome Research Institute, National Institutes of Health (NIH)

Career Start Year 2003

Number of shared co-authors 5

David J Lynn

South Australian Health and Medical Research Institute

Career Start Year 2002

Number of shared co-authors 0

Mark Daly

Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard

Career Start Year 2001

Number of shared co-authors 0

Alexandra F Freeman

National Institute of Allergy and Infectious Diseases

Career Start Year 2001

Number of shared co-authors 17

Victoria J Wright

Imperial College London

Career Start Year 2000

Number of shared co-authors 0

Joshua D Milner

Columbia University

Career Start Year 1999

Number of shared co-authors 17

Bernard Khor

Center for Translational Immunology, Benaroya Research Institute at Virginia Mason

Career Start Year 1998

Number of shared co-authors 0

Luigi D Notarangelo

Laboratory of Clinical Immunology and Microbiology, National Institute of Health

Career Start Year 1998

Number of shared co-authors 16

Joie Davis

National Institutes of Health

Career Start Year 1998

Number of shared co-authors 6

Julian C Knight

University of Oxford

Career Start Year 1997

Number of shared co-authors 0

Soumya Raychaudhuri

Brigham and Women's Hospital and Harvard Medical School

Career Start Year 1996

Number of shared co-authors 2

Hakon Hakonarson

The Center for Applied Genomics, Children's Hospital of Philadelphia

Career Start Year 1995

Number of shared co-authors 2

Ramnik J Xavier

Broad Institute of MIT and Harvard

Career Start Year 1989

Number of shared co-authors 1

Stephen F Kingsmore

Rady Children's Institute for Genomic Medicine

Career Start Year 1988

Number of shared co-authors 3

Frank D Mentch

Center for Applied Genomics (CAG), Children's Hospital of Philadelphia

Career Start Year 1987

Number of shared co-authors 1

Dermot P B McGovern

F. Widjaja Inflammatory Bowel Disease Institute

Career Start Year 1987

Number of shared co-authors 1

Katherine A Siminovitch

University of Toronto, Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital

Career Start Year 1974

Number of shared co-authors 0

row(s) 1 - 30 of 30

Markus G Seidel

Medical University of Graz

Co-authored papers 3

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 3

Fabian Hauck

Department of Pediatrics at the Dr. von Hauner Children's Hospital

Co-authored papers 2

Matthias Haimel

University of Cambridge

Co-authored papers 2

Catharina Schuetz

University Hospital Carl Gustav Carus, Technische Universitat Dresden

Co-authored papers 2

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 1

Tim Jeske

Dr. von Hauner Children's Hospital

Co-authored papers 1

Christoph Klein

Kinderklinik und Kinderpoliklinik der Ludwig-Maximilians-Universitat Munchen

Co-authored papers 1

Rebecca L Peters

American College of Medical Genetics and Genomics (ACMG)

Co-authored papers 1

Michael J Hartnett

American College of Medical Genetics and Genomics (ACMG)