User profiles for Alan Medlar

Alan Medlar

HIIT Research Fellow, University of Helsinki
Verified email at helsinki.fi
Cited by 2564

[HTML][HTML] Risk HLA-DQA1 and PLA2R1 Alleles in Idiopathic Membranous Nephropathy

HC Stanescu, M Arcos-Burgos, A Medlar… - … England Journal of …, 2011 - Mass Medical Soc
Background Idiopathic membranous nephropathy is a major cause of the nephrotic syndrome
in adults, but its etiologic basis is not fully understood. We investigated the genetic basis of …

PANNZER2: a rapid functional annotation web server

P Törönen, A Medlar, L Holm - Nucleic acids research, 2018 - academic.oup.com
The unprecedented growth of high-throughput sequencing has led to an ever-widening
annotation gap in protein databases. While computational prediction methods are available to …

[HTML][HTML] The CAFA challenge reports improved protein function prediction and new functional annotations for hundreds of genes through experimental screens

…, T Goldberg, C Zhao, L Holm, P Törönen, AJ Medlar… - Genome biology, 2019 - Springer
Background The Critical Assessment of Functional Annotation (CAFA) is an ongoing, global,
community-driven effort to evaluate and improve the computational annotation of protein …

Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia

…, K Fawcett, V Plagnol, KP Bhatia, AJ Medlar… - Annals of …, 2013 - Wiley Online Library
Dystonia type 4 (DYT4) was first described in a large family from Heacham in Norfolk with
an autosomal dominantly inherited whispering dysphonia, generalized dystonia, and a …

AAI-profiler: fast proteome-wide exploratory analysis reveals taxonomic identity, misclassification and contamination

AJ Medlar, P Törönen, L Holm - Nucleic acids research, 2018 - academic.oup.com
We present AAI-profiler, a web server for exploratory analysis and quality control in comparative
genomics. AAI-profiler summarizes proteome-wide sequence search results to identify …

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1

…, H Jones, E Omoyinmi, KC Gilmour, A Medlar… - Journal of Experimental …, 2017 - rupress.org
The importance of actin dynamics in the activation of the inflammasome is becoming increasingly
apparent. IL-1β, which is activated by the inflammasome, is known to be central to the …

Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy

…, H Debiec, HC Stanescu, AJ Medlar… - Journal of the …, 2013 - journals.lww.com
The M-type receptor for phospholipase A2 (PLA2R1) is the major target antigen in idiopathic
membranous nephropathy (iMN). Our recent genome-wide association study showed that …

[HTML][HTML] Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations

…, A Asselin, A Picard, A Coulomb, AJ Medlar… - Nephron …, 2013 - karger.com
Background/Aims: Calcium homeostasis requires regulated cellular and interstitial systems
interacting to modulate the activity and movement of this ion. Disruption of these systems in …

Wasabi: an integrated platform for evolutionary sequence analysis and data visualization

A Veidenberg, A Medlar… - Molecular biology and …, 2016 - academic.oup.com
Wasabi is an open source, web-based environment for evolutionary sequence analysis.
Wasabi visualizes sequence data together with a phylogenetic tree within a modern, user-…

Beyond relevance: Adapting exploration/exploitation in information retrieval

K Athukorala, A Medlar, A Oulasvirta… - Proceedings of the 21st …, 2016 - dl.acm.org
We present a novel adaptation technique for search engines to better support information-seeking
activities that include both lookup and exploratory tasks. Building on previous findings…