Lance P. Doucette

A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly

Lance P. Doucette, Jane Green, Bridget A. Fernandez et al. · European Journal of Human Genetics · 2010 · 45 citations · Full text

Developmental Anomaly, Developmental Biology, Peters Anomaly +11

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15

Lance P. Doucette, Nancy D. Merner, Sandra M. Cooke et al. · European Journal of Human Genetics · 2008 · 39 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +6

A Novel Deletion in<i>SMPX</i>Causes a Rare form of X-Linked Progressive Hearing Loss in Two Families Due to a Founder Effect

Nelly Abdelfatah, Nancy D. Merner, Jim Houston et al. · Human Mutation · 2012 · 33 citations

Novel Deletion, Genetics, Neurotology +16

The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

Paul Chrystal, Nils J. Lambacher, Lance P. Doucette et al. · Nature Communications · 2022 · 30 citations · Full text

Molecular Genetics of Achromatopsia in Newfoundland Reveal Genetic Heterogeneity, Founder Effects and the First Cases of Jalili Syndrome in North America

Lance P. Doucette, Jane Green, C. Forrest Black et al. · Ophthalmic Genetics · 2013 · 23 citations

Genetic Testing, Achromatopsia Alleles, Genetics +17