The interactions of genes, age, and environment in glaucoma pathogenesis LP Doucette, A Rasnitsyn, M Seifi, MA Walter Survey of ophthalmology 60 (4), 310-326, 2015 | 136 | 2015 |
Prostaglandins in the eye: Function, expression, and roles in glaucoma LP Doucette, MA Walter Ophthalmic genetics 38 (2), 108-116, 2017 | 103 | 2017 |
A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly L Doucette, J Green, B Fernandez, GJ Johnson, P Parfrey, TL Young European journal of human genetics 19 (3), 293-299, 2011 | 49 | 2011 |
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15 L Doucette, ND Merner, S Cooke, E Ives, D Galutira, V Walsh, T Walsh, ... European journal of human genetics 17 (5), 554-564, 2009 | 48 | 2009 |
Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America L Doucette, J Green, C Black, J Schwartzentruber, GJ Johnson, D Galutira, ... Ophthalmic genetics 34 (3), 119-129, 2013 | 32 | 2013 |
A Novel Deletion in SMPX Causes a Rare form of X‐Linked Progressive Hearing Loss in Two Families Due to a Founder Effect N Abdelfatah, N Merner, J Houston, T Benteau, A Griffin, L Doucette, ... Human mutation 34 (1), 66-69, 2013 | 29 | 2013 |
Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL N Abdelfatah, DA McComiskey, L Doucette, A Griffin, SJ Moore, C Negrijn, ... European Journal of Human Genetics 21 (10), 1112-1119, 2013 | 20 | 2013 |
FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25 A Rasnitsyn, L Doucette, M Seifi, T Footz, V Raymond, MA Walter PLoS One 12 (6), e0178518, 2017 | 11 | 2017 |
A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene N Abdelfatah, AA Mostafa, CR French, LP Doucette, C Penney, MB Lucas, ... Human Genetics, 1-15, 2022 | 10 | 2022 |
FOXC1 Regulates Expression of Prostaglandin Receptors Leading to an Attenuated Response to Latanoprost LP Doucette, T Footz, MA Walter Investigative Ophthalmology & Visual Science 59 (May 2018), 2548-2554, 2018 | 10 | 2018 |
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision PW Chrystal, NJ Lambacher, LP Doucette, J Bellingham, ER Schiff, ... Nature Communications 13 (1), 6595, 2022 | 9 | 2022 |
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid … JA Pater, C Penney, DD O’Rielly, A Griffin, L Kamal, Z Brownstein, B Vona, ... Human Genetics 141 (3), 431-444, 2022 | 8 | 2022 |
Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation LP Doucette, NCL Noel, Y Zhai, M Xu, O Caluseriu, SC Hoang, ... European Journal of Human Genetics 29 (8), 1171-1185, 2021 | 3 | 2021 |
PEX6 Mutations in Peroxisomal Biogenesis Disorders: An Usher Syndrome Mimic MD Benson, KM Papp, GA Casey, A Radziwon, CD St Laurent, ... Ophthalmology Science 1 (2), 100028, 2021 | 3 | 2021 |
Disrupting the Repeat Domain of Premelanosome Protein (PMEL) Produces Dysamyloidosis and Dystrophic Ocular Pigment Reflective of Pigmentary Glaucoma ED Hodges, PW Chrystal, T Footz, LP Doucette, NCL Noel, Z Li, ... International Journal of Molecular Sciences 24 (19), 14423, 2023 | 2 | 2023 |
A Method to Evaluate the Roles of FOXC1 and PITX2 in the Regulation of Micro RNAs LP Doucette, T Footz, MA Walter Investigative Ophthalmology & Visual Science 57 (12), 796-796, 2016 | | 2016 |
Molecular Analysis of Glaucoma in Axenfeld-Rieger Syndrome Patients Resistant to Prostaglandin Based Therapies LP Doucette, T Footz, A Rasnitsyn, MA Walter Investigative Ophthalmology & Visual Science 55 (13), 1280-1280, 2014 | | 2014 |
The genetic characterization of mendelian ocular disorders in the population of Newfoundland and Labrador LP Doucette Memorial University of Newfoundland, 2012 | | 2012 |
A Deafness Gene, Cadherin 23 (CDH23) and Its Relationship to the Recessive Deafness Pattern in Family A, a Newfoundland Family LP Doucette Memorial University of Newfoundland, 2006 | | 2006 |