The human phenotype ontology in 2021 S Köhler, M Gargano, N Matentzoglu, LC Carmody, D Lewis-Smith, ... Nucleic acids research 49 (D1), D1207-D1217, 2021 | 812 | 2021 |
Early‐onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms J Pazmandi, A Kalinichenko, RC Ardy, K Boztug Immunological reviews 287 (1), 162-185, 2019 | 87 | 2019 |
<? mode longauthoraffil?> The Human Phenotype Ontology in 2024: phenotypes around the world MA Gargano, N Matentzoglu, B Coleman, EB Addo-Lartey, ... Nucleic acids research 52 (D1), D1333-D1346, 2024 | 61 | 2024 |
The VRNetzer platform enables interactive network analysis in Virtual Reality S Pirch, F Müller, E Iofinova, J Pazmandi, CVR Hütter, M Chiettini, C Sin, ... Nature communications 12 (1), 2432, 2021 | 53 | 2021 |
RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis A Kalinichenko, G Perinetti Casoni, L Dupré, L Trotta, J Huemer, ... Blood, The Journal of the American Society of Hematology 137 (15), 2033-2045, 2021 | 48 | 2021 |
C5aR1 interacts with TLR 2 in osteoblasts and stimulates the osteoclast‐inducing chemokine CXCL 10 Y Mödinger, A Rapp, J Pazmandi, A Vikman, K Holzmann, ... Journal of cellular and molecular medicine 22 (12), 6002-6014, 2018 | 40 | 2018 |
Loss-of-function mutation in PTPN2 causes aberrant activation of JAK signaling via STAT and very early onset intestinal inflammation M Parlato, Q Nian, F Charbit-Henrion, FM Ruemmele, F Rodrigues-Lima, ... Gastroenterology 159 (5), 1968-1971. e4, 2020 | 32 | 2020 |
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity M Haimel, J Pazmandi, RJ Heredia, J Dmytrus, SK Bal, S Zoghi, ... Journal of Allergy and Clinical Immunology 149 (1), 369-378, 2022 | 31 | 2022 |
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects E Calzoni, CD Platt, S Keles, HS Kuehn, S Beaussant-Cohen, Y Zhang, ... Journal of Allergy and Clinical Immunology 143 (6), 2317-2321. e12, 2019 | 28 | 2019 |
Common Genetic Variants of the Human Steroid 21-Hydroxylase Gene (CYP21A2) Are Related to Differences in Circulating Hormone Levels M Doleschall, JA Szabo, J Pazmandi, A Szilagyi, K Koncz, H Farkas, ... PLoS One 9 (9), e107244, 2014 | 16 | 2014 |
Supplementation of the ESID registry working definitions for the clinical diagnosis of inborn errors of immunity with encoded human phenotype ontology (HPO) terms LM Gasteiger, PN Robinson, J Pazmandi, K Boztug, MRJ Seppänen, ... The journal of allergy and clinical immunology. In practice 8 (5), 1778, 2020 | 7 | 2020 |
Rheumatological manifestations in inborn errors of immunity S Köstel Bal, J Pazmandi, K Boztug, S Özen Pediatric Research 87 (2), 293-299, 2020 | 5 | 2020 |
AutoCore: A network-based definition of the core module of human autoimmunity and autoinflammation J Guthrie, S Köstel Bal, SD Lombardo, F Müller, C Sin, CVR Hütter, ... Science Advances 9 (35), eadg6375, 2023 | 4 | 2023 |
The Human Phenotype Ontology in 2024: phenotypes around the world. F Castellanos, J Caufield, L Chan, C Chute, J Cruz-Rojo, N Dahan-Oliel, ... Nucleic Acids Research 52 (D1), 2024 | 3 | 2024 |
The ketogenic diet alters the expression of microRNAs that play key roles in tumor development J Pazmandi, KS O'Neill, AC Scheck, PW Szlosarek, EC Woolf, KS Brooks, ... Cancer Research 75 (15_Supplement), 240-240, 2015 | 3 | 2015 |
Chronic or severe enteropathy and immunodeficiency: Be prepared for a rara avis K Weber, Y Zeißig, C Haag, R Schmelz, J Pazmandi, A Kalinichenko, ... Zeitschrift fur Gastroenterologie 60 (11), 1668-1677, 2022 | 2 | 2022 |
One Hundred and Beyond: Using Shoreline Management Plans JGL Guthrie, NJ Cooper, S Rowe, P Patterson, T Oakes, K Thomas, ... Coasts, marine structures and breakwaters: Adapting to change: Proceedings …, 2010 | 2 | 2010 |
Improved understanding of sediment transport for coastal management on the east coast of England RJS Whitehouse, JM Rees, JGL Guthrie, B D'Olier, CE Vincent Coastal Engineering 2002: Solving Coastal Conundrums, 3247-3258, 2003 | 2 | 2003 |
PB2271: germline loss of RhoG identifies its role as an essential regulator of human lymphocyte cytotoxicity AA Kalinichenko, GP Casoni, L Dupre, K Boztug Education 2021, 2016 | 1 | 2016 |
Thought that is silenced is always rebellious-An argument for argument in consultation JGL Guthrie, A Battison, R Cottle, R Hopewell International Conference on Coastal Management 2003, 113-126, 2003 | 1 | 2003 |