Annie McNinch

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

Prevention of Retinal Detachment in Stickler Syndrome

Gregory Fincham, Laura Pasea, Christopher Carroll et al. · Ophthalmology · 2014 · 135 citations · Full text

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

Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss

Allan J. Richards, Gregory Fincham, Annie McNinch et al. · Journal of Medical Genetics · 2013 · 45 citations · Full text

Homozygous Type IX collagen variants (<i>COL9A1</i>, <i>COL9A2</i>, and <i>COL9A3</i>) causing recessive Stickler syndrome—Expanding the phenotype

Thomas Nixon, Philip Alexander, Allan J. Richards et al. · American Journal of Medical Genetics Part A · 2019 · 43 citations

Mendelian Disorder, Autoimmune Disease, Family Members +15