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Publications

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes

Feenstra HM. et al, (2022), Genes, 13, 1423 - 1423

SVRare: discovering disease-causing structural variants in the 100K Genomes Project

Yu J. et al, (2021)

Phenogenon: Gene to phenotype associations for rare genetic diseases.

Pontikos N. et al, (2020), PLoS One, 15

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data

Pontikos N. et al, (2017), Bioinformatics, 33, 2421 - 2423

Pheno4J: a gene to phenotype graph database

Mughal S. et al, (2017)

The Human Phenotype Ontology in 2017

Köhler S. et al, (2017), Nucleic Acids Research, 45, D865 - D876

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

Sleven H. et al, (2017), The American Journal of Human Genetics, 100, 138 - 150

Elucidation of the RamA Regulon in Klebsiella pneumoniae Reveals a Role in LPS Regulation

De Majumdar S. et al, (2015), PLOS Pathogens, 11, e1004627 - e1004627

Molecular basis of non-mutational derepression of ramA in Klebsiella pneumoniae

De Majumdar S. et al, (2014), Journal of Antimicrobial Chemotherapy, 69, 2681 - 2689

Genome Sequence of Klebsiella pneumoniae Ecl8, a Reference Strain for Targeted Genetic Manipulation

Fookes M. et al, (2013), Genome Announcements, 1

Tigecycline challenge triggers sRNA production in Salmonella enterica serovar Typhimurium

Yu J. and Schneiders T., (2012), BMC Microbiology, 12, 195 - 195

Structural and genetic analyses of the RdgC protein in Escherichia coli.

Yu J., (2011)

The RdgC protein employs a novel mechanism involving a finger domain to bind to circular DNA

Briggs GS. et al, (2010), Nucleic Acids Research, 38, 6433 - 6446

Ring Structure of theEscherichia coliDNA-binding Protein RdgC Associated with Recombination and Replication Fork Repair

Briggs GS. et al, (2007), Journal of Biological Chemistry, 282, 12353 - 12357

Include forthcoming?