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Burdon KP 177
Showing records 1 to 25 | Display only abstracts from Burdon KP in IGR 15-2105995 Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel
Burdon KP; Graham P; Hadler J; Hulleman JD; Pasutto F; Boese EA; Craig JE; Fingert JH; Hewitt AW; Siggs OM; Whisenhunt K; Young TL; Mackey DA; Dubowsky A; Souzeau E
Human Mutation 2022; 43: 2170-2186 (IGR: 23-3)
95301 The utility of genomic testing in the ophthalmology clinic: A review
Burdon KP
Clinical and Experimental Ophthalmology 2021; 49: 615-625 (IGR: 22-2)
85135 Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma
Siggs OM; Souzeau E; Taranath DA; Dubowsky A; Chappell A; Chappell A; Zhou T; Javadiyan S; Nicholl J; Kearns LS; Staffieri SE; Narita A; Smith JEH; Pater J; Hewitt AW; Ruddle JB; Elder JE; Mackey DA; Burdon KP; Craig JE
Ophthalmology 2020; 127: 758-766 (IGR: 21-1)
80727 Macular Ganglion Cell-Inner Plexiform Layer Loss Precedes Peripapillary Retinal Nerve Fiber Layer Loss in Glaucoma with Lower Intraocular Pressure
Marshall HN; Andrew NH; Andrew NH; Hassall M; Qassim A; Souzeau E; Ridge B; Nguyen T; Fitzgerald J; Awadalla MS; Burdon KP; Healey PR; Agar A; Galanopoulos A; Hewitt AW; Graham SL; Landers J; Casson RJ; Craig JE
Ophthalmology 2019; 126: 1119-1130 (IGR: 20-3)
79962 Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma
Siggs OM; Souzeau E; Pasutto F; Dubowsky A; Smith JEH; Taranath D; Pater J; Rait JL; Narita A; Mauri L; Del Longo A; Reis A; Chappell A; Chappell A; Kearns LS; Staffieri SE; Elder JE; Ruddle JB; Hewitt AW; Burdon KP; Mackey DA; Craig JE
JAMA ophthalmology 2019; 137: 348-355 (IGR: 20-2)
76513 Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma
Gharahkhani P; Burdon KP; Cooke Bailey JN; Hewitt AW; Law MH; Pasquale LR; Kang JH; Haines JL; Souzeau E; Zhou T; Siggs OM; Landers J; Awadalla M; Sharma S; Mills RA; Ridge B; Lynn D; Casson R; Graham SL; Goldberg I; White A; Healey PR; Grigg J; Lawlor M,
Scientific reports 2018; 8: 3124 (IGR: 19-3)
75574 DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma
Burdon KP; Awadalla MS; Mitchell P; Wang JJ; White A; Keane MC; Souzeau E; Graham SL; Goldberg I; Healey PR; Landers J; Mills RAD; Best S; Hewitt AW; Sharma S; Craig JE
Ophthalmic Genetics 2018; 39: 221-227 (IGR: 19-2)
72616 Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma
Zhou T; Souzeau E; Siggs OM; Landers J; Mills R; Goldberg I; Healey PR; Graham S; Hewitt AW; Mackey DA; Galanopoulos A; Casson RJ; Ruddle JB; Ellis J; Leo P; Brown MA; Macgregor S; Sharma S; Burdon KP; Craig JE
Investigative Ophthalmology and Visual Science 2017; 58: 1537-1544 (IGR: 18-4)
71655 Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma
Zhou T; Souzeau E; Sharma S; Landers J; Mills R; Goldberg I; Healey PR; Graham S; Hewitt AW; Mackey DA; Galanopoulos A; Casson RJ; Ruddle JB; Ellis J; Leo P; Brown MA; Macgregor S; Lynn DJ; Burdon KP; Craig JE
PLoS ONE 2017; 12: e0172427 (IGR: 18-3)
70630 Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma
Zhou T
Molecular genetics & genomic medicine 2016; 4: 624-633 (IGR: 18-2)
70791 Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals
Souzeau E
Ophthalmology 2017; 124: 303-309 (IGR: 18-2)
70630 Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma
Souzeau E
Molecular genetics & genomic medicine 2016; 4: 624-633 (IGR: 18-2)
70791 Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals
Tram KH; Witney M
Ophthalmology 2017; 124: 303-309 (IGR: 18-2)
70630 Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma
Sharma S; Siggs OM
Molecular genetics & genomic medicine 2016; 4: 624-633 (IGR: 18-2)
70791 Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals
Ruddle JB; Graham SL
Ophthalmology 2017; 124: 303-309 (IGR: 18-2)
70630 Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma
Goldberg I; Healey PR
Molecular genetics & genomic medicine 2016; 4: 624-633 (IGR: 18-2)
70791 Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals
Healey PR
Ophthalmology 2017; 124: 303-309 (IGR: 18-2)
70630 Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma
Graham S
Molecular genetics & genomic medicine 2016; 4: 624-633 (IGR: 18-2)
70791 Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals
Goldberg I
Ophthalmology 2017; 124: 303-309 (IGR: 18-2)
70630 Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma
Hewitt AW
Molecular genetics & genomic medicine 2016; 4: 624-633 (IGR: 18-2)
70791 Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals
Mackey DA
Ophthalmology 2017; 124: 303-309 (IGR: 18-2)
70630 Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma
Mackey DA
Molecular genetics & genomic medicine 2016; 4: 624-633 (IGR: 18-2)
70791 Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals
Hewitt AW; Burdon KP
Ophthalmology 2017; 124: 303-309 (IGR: 18-2)
70630 Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma
Casson RJ; Landers J
Molecular genetics & genomic medicine 2016; 4: 624-633 (IGR: 18-2)
70791 Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals
Craig JE
Ophthalmology 2017; 124: 303-309 (IGR: 18-2)
