Becky Treacy

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1

Allan J. Richards, Annie McNinch, Howard Martin et al. · Human Mutation · 2010 · 140 citations · Full text

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Heterozygous Variants +8

High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1

Allan J. Richards, Maureen Laidlaw, Becky Treacy et al. · Human Mutation · 2006 · 70 citations

Genetics, Mutation Detection, Diagnosis +16

Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations

Allan J. Richards, Annie McNinch, Becky Treacy et al. · European Journal of Human Genetics · 2011 · 45 citations · Full text

Systems Biology, Somatic Variant, Variant Interpretation +10

Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders Study

Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald et al. · 2016 · 36 citations · Full text

Exome Sequencing, Genetics, Genetic Epidemiology +23