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Results: 11561
Surveillance recommendations for DICER1 pathogenic variant carriers
Jette J Bakhuizen, Helen Hanson, Karin van der Tuin, Fiona Lalloo, Marc Tischkowitz, Karin Wadt, Marjolijn CJ Jongmans, SIOPE Host Genome Working Group, CanGene-CanVar Clinical Guideline Working Group, Expert Network Members
Oct 01, 2021
DICER1 syndrome is a rare genetic disorder that predisposes to a wide spectrum of tumors. Developing surveillance protocols for this syndrome is challenging because uncertainty exists about the clinical efficacy of surveillance...
The Gene Ontology's Reference Genome Project
The Gene Ontology (GO) is a collaborative effort that provides structured vocabularies for annotating the molecular function, biological role, and cellular location of gene products in a highly systematic way and in a...
The GRAPPA-OMERACT Working Group
Ying Ying Leung, William Tillett, Ana-Maria Orbai, Alexis Ogdie, Lihi Eder, Laura C Coates, Richard Holland, Anna Antony, Niti Goel, Philip J Mease
Jun 30, 2020
The Group for Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA)-Outcome Measures in Rheumatology (OMERACT) Psoriatic Arthritis (PsA) working group provided updates at the 2019 GRAPPA annual meeting on its...
The GRAPPA-OMERACT Working Group
Ying Ying Leung, William Tillett, Ana-Maria Orbai, Alexis Ogdie, Lihi Eder, Laura C Coates, Richard Holland, Anna Antony, Niti Goel, Philip J Mease
Jun 30, 2020
The Group for Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA)-Outcome Measures in Rheumatology (OMERACT) Psoriatic Arthritis (PsA) working group provided updates at the 2019 GRAPPA annual meeting on its...
Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative
Jan 05, 2022
The genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of...
Autoimmunity Body Mass Index covid-19 Critical Illness Female Genetic Loci Genetic Predisposition to Disease Genome-Wide Association Study Geographic Mapping Hospitalization Host-Pathogen Interactions Humans Inflammation Information Dissemination Male Multifactorial Inheritance Racial Groups SARS-CoV-2 Smoking
Assessment of venous hemodynamics and volume homeostasis during pregnancy
Venous hemodynamics and volume homeostasis are important aspects of cardiovascular physiology. However, today their relevance is still very much underappreciated. Their most important role is maintenance and control of venous...
maternal hemodynamics plasma volume Pregnancy venous hemodynamics venous return volume homeostasis Blood Flow Velocity cardiac output Cardiovascular Physiological Phenomena Consensus Development Conferences as Topic Female Guidelines as Topic Hemodynamics Homeostasis Humans Maternal Health Pregnancy Pregnancy Complications Cardiovascular Prenatal Diagnosis Uterine Artery
Changing the name of diabetes insipidus
Working Group for Renaming Diabetes Insipidus, Hiroshi Arima, Timothy Cheetham, Mirjam Christ-Crain, Deborah Cooper, Mark Gurnell, Juliana B Drummond, Miles Levy, Ann I McCormack, Joseph Verbalis, John Newell-Price, John AH Wass
Nov 16, 2022
'What's in a name? That which we call a rose/By any other name would smell as sweet' (Juliet, from Romeo and Juliet by William Shakespeare). Shakespeare's implication is that a name is nothing but a word, and it therefore...
Working for the future
Tochukwu Nweze, Mary Basil Nwoke, Juliet Ifeoma Nwufo, Richard Ikechukwu Aniekwu, Florian Lange
Jun 12, 2020
BACKGROUND: The dominant view based on the deficit model of developmental psychopathology is that early adverse rearing impairs cognition. In contrast, an emerging evolutionary-developmental model argues that individuals exposed...
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Matthew H Bailey, William U Meyerson, Lewis Jonathan Dursi, Liang-Bo Wang, Guanlan Dong, Wen-Wei Liang, Amila Weerasinghe, Shantao Li, Yize Li, Sean Kelso, MC3 Working Group, PCAWG novel somatic mutation calling methods working group, Gordon Saksena, Kyle Ellrott, Michael C Wendl, David A Wheeler, Gad Getz, Jared T Simpson, Mark B Gerstein, Li Ding, PCAWG Consortium
Oct 12, 2020
The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the...
Review of the psoriatic arthritis working group at OMERACT 12
William Tillett, Lihi Eder, Niti Goel, Maarten de Wit, Alexis Ogdie, Ana Maria Orbai, Willemina Campbell, Oliver FitzGerald, Neil J. McHugh, Dafna D. Gladman, Vibeke Strand, Philip J. Mease
Jun 01, 2015
At the 2014 annual meeting of the Group for Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA), the psoriatic arthritis (PsA) working group of OMERACT (Outcome Measures in Rheumatology) presented a review...
Review of the psoriatic arthritis working group at OMERACT 12
William Tillett, Lihi Eder, Niti Goel, Maarten de Wit, Alexis Ogdie, Ana Maria Orbai, Willemina Campbell, Oliver FitzGerald, Neil J. McHugh, Dafna D. Gladman, Vibeke Strand, Philip J. Mease
Jun 01, 2015
At the 2014 annual meeting of the Group for Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA), the psoriatic arthritis (PsA) working group of OMERACT (Outcome Measures in Rheumatology) presented a review...
High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations.
Yiqun Zhang, Fengju Chen, Nuno A Fonseca, Yao He, Masashi Fujita, Hidewaki Nakagawa, Zemin Zhang, Alvis Brazma, PCAWG Transcriptome Working Group, PCAWG Structural Variation Working Group, Chad J Creighton, PCAWG Consortium
Feb 04, 2021
The impact of somatic structural variants (SVs) on gene expression in cancer is largely unknown. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole-genome sequencing...
Genome-wide host-pathogen analyses reveal genetic interaction points in tuberculosis disease.
Jody Phelan, Paula Josefina Gomez-Gonzalez, Nuria Andreu, Yosuke Omae, Licht Toyo-Oka, Hideki Yanai, Reiko Miyahara, Supalert Nedsuwan, Paola Florez de Sessions, Susana Campino, Neneh Sallah, Julian Parkhill, Nat Smittipat, Prasit Palittapongarnpim, Taisei Mushiroda, Michiaki Kubo, Katsushi Tokunaga, Surakameth Mahasirimongkol, Martin L Hibberd, Taane G Clark
Feb 02, 2023
The genetics underlying tuberculosis (TB) pathophysiology are poorly understood. Human genome-wide association studies have failed so far to reveal reproducible susceptibility loci, attributed in part to the influence of the...
Alliance of Genome Resources Portal
Alliance of Genome Resources Consortium
May 11, 2020
The Alliance of Genome Resources (Alliance) is a consortium of the major model organism databases and the Gene Ontology that is guided by the vision of facilitating exploration of related genes in human and well-studied model...
Report of the GRAPPA-OMERACT Psoriatic Arthritis Working Group from the GRAPPA 2015 Annual Meeting
Ana-Maria Orbai, Philip J Mease, Maarten de Wit, Umut Kalyoncu, Willemina Campbell, William Tillett, Lihi Eder, Musaab Elmamoun, Oliver FitzGerald, Dafna D Gladman, Niti Goel, Laure Gossec, Chris A Lindsay, Ingrid Steinkoenig, Philip S Helliwell, Neil J McHugh, Vibeke Strand, Alexis Ogdie
May 01, 2016
The GRAPPA-OMERACT psoriatic arthritis (PsA) working group is in the process of updating the PsA core domain set to improve and standardize the measurement of PsA outcomes. Work streams comprise literature reviews of domains...
Genome-wide host-pathogen analyses reveal genetic interaction points in tuberculosis disease.
Jody Phelan, Paula Josefina Gomez-Gonzalez, Nuria Andreu, Yosuke Omae, Licht Toyo-Oka, Hideki Yanai, Reiko Miyahara, Supalert Nedsuwan, Paola Florez de Sessions, Susana Campino, Neneh Sallah, Julian Parkhill, Nat Smittipat, Prasit Palittapongarnpim, Taisei Mushiroda, Michiaki Kubo, Katsushi Tokunaga, Surakameth Mahasirimongkol, Martin L Hibberd, Taane G Clark
Mar 05, 2023
The genetics underlying tuberculosis (TB) pathophysiology are poorly understood. Human genome-wide association studies have failed so far to reveal reproducible susceptibility loci, attributed in part to the influence of the...
Humans Mycobacterium tuberculosis Tuberculosis Phylogeny Genome Host-Pathogen Interactions Genome-Wide Association Study
Published by: Nature Communications
The GRAPPA-OMERACT Psoriatic Arthritis Working Group at the 2018 Annual Meeting
Ying Ying Leung, Ana-Maria Orbai, Alexis Ogdie, Laura C Coates, Maarten de Wit, Lihi Eder, Dafna D Gladman, Niti Goel, Philip J Mease, Vibeke Strand, Oliver FitzGerald, William Tillett
Jun 01, 2019
The Group for Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA)-Outcome Measures in Rheumatology (OMERACT) Psoriatic Arthritis (PsA) Working Group reported at the 2018 GRAPPA annual meeting on the outcome...
Report of the GRAPPA-OMERACT Psoriatic Arthritis Working Group from the GRAPPA 2015 Annual Meeting
Ana-Maria Orbai, Philip J Mease, Maarten de Wit, Umut Kalyoncu, Willemina Campbell, William Tillett, Lihi Eder, Musaab Elmamoun, Oliver FitzGerald, Dafna D Gladman, Niti Goel, Laure Gossec, Chris A Lindsay, Ingrid Steinkoenig, Philip S Helliwell, Neil J McHugh, Vibeke Strand, Alexis Ogdie
May 01, 2016
The GRAPPA-OMERACT psoriatic arthritis (PsA) working group is in the process of updating the PsA core domain set to improve and standardize the measurement of PsA outcomes. Work streams comprise literature reviews of domains...
The GRAPPA-OMERACT Psoriatic Arthritis Working Group at the 2018 Annual Meeting
Ying Ying Leung, Ana-Maria Orbai, Alexis Ogdie, Laura C Coates, Maarten de Wit, Lihi Eder, Dafna D Gladman, Niti Goel, Philip J Mease, Vibeke Strand, Oliver FitzGerald, William Tillett
Jun 01, 2019
The Group for Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA)-Outcome Measures in Rheumatology (OMERACT) Psoriatic Arthritis (PsA) Working Group reported at the 2018 GRAPPA annual meeting on the outcome...
Genome-wide identification of host-segregating epidemiological markers for source attribution in <i>Campylobacter jejuni</i>
Amandine Thépault, Guillaume Méric, Katell Rivoal, Ben Pascoe, Leonardos Mageiros, Fabrice Touzain, Valérie Rose, Véronique Béven, Marianne Chemaly, Samuel K Sheppard
Apr 01, 2017
Campylobacter is among the most common worldwide causes of bacterial gastroenteritis. This organism is part of the commensal microbiota of numerous host species, including livestock, and these animals constitute potential...
Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.
A Dardis, H Michelakakis, P Rozenfeld, K Fumic, J Wagner, E Pavan, M Fuller, S Revel-Vilk, D Hughes, T Cox, J Aerts, International Working Group of Gaucher Disease (IWGGD)
Dec 21, 2022
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder due to the deficient activity of the acid beta-glucosidase (GCase) enzyme, resulting in the progressive lysosomal accumulation of glucosylceramide...
Exome-wide association study to identify rare variants influencing COVID-19 outcomes
Guillaume Butler-Laporte, Gundula Povysil, Jack A Kosmicki, Elizabeth T Cirulli, Theodore Drivas, Simone Furini, Chadi Saad, Axel Schmidt, Pawel Olszewski, Urszula Korotko, Mathieu Quinodoz, Elifnaz Çelik, Kousik Kundu, Klaudia Walter, Junghyun Jung, Amy D Stockwell, Laura G Sloofman, Daniel M Jordan, Ryan C Thompson, Diane Del Valle, Nicole Simons, Esther Cheng, Robert Sebra, Eric E Schadt, Seunghee Kim-schulze, Sacha Gnjatic, Miriam Merad, Joseph D Buxbaum, Noam D Beckmann, Alexander W Charney, Bartlomiej Przychodzen, Timothy Chang, Tess D Pottinger, Ning Shang, Fabian Brand, Francesca Fava, Francesca Mari, Karolina Chwialkowska, Magdalena Niemira, Szymon Pula, J Kenneth Baillie, Alex Stuckey, Antonio Salas, Xabier Bello, Jacobo Pardo-Seco, Alberto Gómez-Carballa, Irene Rivero-Calle, Federico Martinón-Torres, Andrea Ganna, Konrad J Karczewski, Kumar Veerapen, Mathieu Bourgey, Guillaume Bourque, Robert Jm Eveleigh, Vincenzo Forgetta, David Morrison, David Langlais, Mark Lathrop, Vincent Mooser, Tomoko Nakanishi, Robert Frithiof, Michael Hultström, Miklos Lipcsey, Yanara Marincevic-Zuniga, Jessica Nordlund, Kelly M Schiabor Barrett, William Lee, Alexandre Bolze, Simon White, Stephen Riffle, Francisco Tanudjaja, Efren Sandoval, Iva Neveux, Shaun Dabe, Nicolas Casadei, Susanne Motameny, Manal Alaamery, Salam Massadeh, Nora Aljawini, Mansour S Almutairi, Yaseen M Arabi, Saleh A Alqahtani, Fawz S Al Harthi, Amal Almutairi, Fatima Alqubaishi, Sarah Alotaibi, Albandari Binowayn, Ebtehal A Alsolm, Hadeel El Bardisy, Mohammad Fawzy, Fang Cai, Nicole Soranzo, Adam Butterworth, COVID-19 Host Genetics Initiative, DeCOI Host Genetics Group, GEN-COVID Multicenter Study (Italy), Mount Sinai Clinical Intelligence Center, GEN-COVID consortium (Spain), GenOMICC Consortium, Japan COVID-19 Task Force, Regeneron Genetics Center, Daniel H Geschwind, Stephanie Arteaga, Alexis Stephens, Manish J Butte, Paul C Boutros, Takafumi N Yamaguchi, Shu Tao, Stefan Eng, Timothy Sanders, Paul J Tung, Michael E Broudy, Yu Pan, Alfredo Gonzalez, Nikhil Chavan, Ruth Johnson, Bogdan Pasaniuc, Brian Yaspan, Sandra Smieszek, Carlo Rivolta, Stephanie Bibert, Pierre-Yves Bochud, Maciej Dabrowski, Pawel Zawadzki, Mateusz Sypniewski, Elżbieta Kaja, Pajaree Chariyavilaskul, Voraphoj Nilaratanakul, Nattiya Hirankarn, Vorasuk Shotelersuk, Monnat Pongpanich, Chureerat Phokaew, Wanna Chetruengchai, Katsushi Tokunaga, Masaya Sugiyama, Yosuke Kawai, Takanori Hasegawa, Tatsuhiko Naito, Ho Namkoong, Ryuya Edahiro, Akinori Kimura, Seishi Ogawa, Takanori Kanai, Koichi Fukunaga, Yukinori Okada, Seiya Imoto, Satoru Miyano, Serghei Mangul, Malak S Abedalthagafi, Hugo Zeberg, Joseph J Grzymski, Nicole L Washington, Stephan Ossowski, Kerstin U Ludwig, Eva C Schulte, Olaf Riess, Marcin Moniuszko, Miroslaw Kwasniewski, Hamdi Mbarek, Said I Ismail, Anurag Verma, David B Goldstein, Krzysztof Kiryluk, Alessandra Renieri, Manuel AR Ferreira, J Brent Richards
Dec 08, 2022
Host genetics is a key determinant of COVID-19 outcomes. Previously, the COVID-19 Host Genetics Initiative genome-wide association study used common variants to identify multiple loci associated with COVID-19 outcomes. However...
Plain Radiographic Instruments for Structural Damage in Peripheral Joints in Psoriatic Arthritis
Anna Antony, Richard Holland, Ashish J. Mathew, Maria Antoinetta D'Agostino, Walter P. Maksymowych, Philip J. Mease, Niti Goel, Alexis Ogdie, Laura C. Coates, Vibeke Strand, Robin Christensen, Dafna D. Gladman, Ana Maria Orbai, Ying Ying Leung, William Tillett
Jun 01, 2022
The Group for Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA)-Outcome Measures in Rheumatology (OMERACT) Psoriatic Arthritis (PsA) Core Set working group is focused on the development of a core set of...
Patient-reported outcome instruments for assessing Raynaud’s phenomenon in systemic sclerosis
John D. Pauling, Tracy M. Frech, Michael Hughes, Jessica K. Gordon, Robyn T. Domsic, Marina E. Anderson, Francesca Ingegnoli, Neil J. McHugh, Sindhu R. Johnson, Marie Hudson, Francesco Boin, Voon H. Ong, Marco Matucci-Cerinic, Nezam Altorok, Marina Scolnik, Mandana Nikpour, Ankoor Shah, Janet E. Pope, Dinesh Khanna, Ariane L. Herrick
Oct 01, 2018
The episodic nature of Raynaud’s phenomenon in systemic sclerosis has led to a reliance on patient-reported outcome instruments such as the Raynaud’s Condition Score diary. Little is known about the utilization in routine...
Genome-wide identification of host-segregating epidemiological markers for source attribution in <i>Campylobacter jejuni</i>
Amandine Thépault, Guillaume Méric, Katell Rivoal, Ben Pascoe, Leonardos Mageiros, Fabrice Touzain, Valérie Rose, Véronique Béven, Marianne Chemaly, Samuel K Sheppard
Apr 01, 2017
Campylobacter is among the most common worldwide causes of bacterial gastroenteritis. This organism is part of the commensal microbiota of numerous host species, including livestock, and these animals constitute potential...
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