Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

1,676 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia.
Lim SH, St Germain E, Tran-Viet KN, Staffieri S, Marino M, Dollfus PH, Nading EB, Crowe S, Gole G, Perdomo-Trujillo Y, Haybittel M, Elder J, Pelletier V, Traboulsi E, Mackey D, Young TL. Lim SH, et al. Among authors: elder j. Ophthalmic Genet. 2014 Mar;35(1):1-6. doi: 10.3109/13816810.2012.752017. Epub 2013 Jun 26. Ophthalmic Genet. 2014. PMID: 23802135 Free PMC article.
Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.
Souzeau E, Siggs OM, Zhou T, Galanopoulos A, Hodson T, Taranath D, Mills RA, Landers J, Pater J, Smith JE, Elder JE, Rait JL, Giles P, Phakey V, Staffieri SE, Kearns LS, Dubowsky A, Mackey DA, Hewitt AW, Ruddle JB, Burdon KP, Craig JE. Souzeau E, et al. Among authors: elder je. Eur J Hum Genet. 2017 Jun;25(7):839-847. doi: 10.1038/ejhg.2017.59. Epub 2017 May 17. Eur J Hum Genet. 2017. PMID: 28513611 Free PMC article.
High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.
Javadiyan S, Craig JE, Souzeau E, Sharma S, Lower KM, Mackey DA, Staffieri SE, Elder JE, Taranath D, Straga T, Black J, Pater J, Casey T, Hewitt AW, Burdon KP. Javadiyan S, et al. Among authors: elder je. G3 (Bethesda). 2017 Oct 5;7(10):3257-3268. doi: 10.1534/g3.117.300109. G3 (Bethesda). 2017. PMID: 28839118 Free PMC article.
Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect.
Shaaban S, MacKinnon S, Andrews C, Staffieri SE, Maconachie GDE, Chan WM, Whitman MC, Morton SU, Yazar S, MacGregor S, Elder JE, Traboulsi EI, Gottlob I, Hewitt AW; Strabismus Genetics Research Consortium; Hunter DG, Mackey DA, Engle EC. Shaaban S, et al. Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4054-4064. doi: 10.1167/iovs.18-24082. Invest Ophthalmol Vis Sci. 2018. PMID: 30098192 Free PMC article.
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, Kearns LS, Staffieri SE, Elder JE, Ruddle JB, Hewitt AW, Burdon KP, Mackey DA, Craig JE. Siggs OM, et al. Among authors: elder je. JAMA Ophthalmol. 2019 Apr 1;137(4):348-355. doi: 10.1001/jamaophthalmol.2018.5646. JAMA Ophthalmol. 2019. PMID: 30653210 Free PMC article.
Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma.
Siggs OM, Souzeau E, Taranath DA, Dubowsky 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. Siggs OM, et al. Among authors: elder je. Ophthalmology. 2020 Jun;127(6):758-766. doi: 10.1016/j.ophtha.2019.12.024. Epub 2020 Jan 7. Ophthalmology. 2020. PMID: 32085876
Global Retinoblastoma Presentation and Analysis by National Income Level.
Global Retinoblastoma Study Group; Fabian ID, Abdallah E, Abdullahi SU, Abdulqader RA, Adamou Boubacar S, Ademola-Popoola DS, Adio A, Afshar AR, Aggarwal P, Aghaji AE, Ahmad A, Akib MNR, Al Harby L, Al Ani MH, Alakbarova A, Portabella SA, Al-Badri SAF, Alcasabas APA, Al-Dahmash SA, Alejos A, Alemany-Rubio E, Alfa Bio AI, Alfonso Carreras Y, Al-Haddad C, Al-Hussaini HHY, Ali AM, Alia DB, Al-Jadiry MF, Al-Jumaily U, Alkatan HM, All-Eriksson C, Al-Mafrachi AARM, Almeida AA, Alsawidi KM, Al-Shaheen AASM, Al-Shammary EH, Amiruddin PO, Antonino R, Astbury NJ, Atalay HT, Atchaneeyasakul LO, Atsiaya R, Attaseth T, Aung TH, Ayala S, Baizakova B, Balaguer J, Balayeva R, Balwierz W, Barranco H, Bascaran C, Beck Popovic M, Benavides R, Benmiloud S, Bennani Guebessi N, Berete RC, Berry JL, Bhaduri A, Bhat S, Biddulph SJ, Biewald EM, Bobrova N, Boehme M, Boldt HC, Bonanomi MTBC, Bornfeld N, Bouda GC, Bouguila H, Boumedane A, Brennan RC, Brichard BG, Buaboonnam J, Calderón-Sotelo P, Calle Jara DA, Camuglia JE, Cano MR, Capra M, Cassoux N, Castela G, Castillo L, Català-Mora J, Chantada GL, Chaudhry S, Chaugule SS, Chauhan A, Chawla B, Chernodrinska VS, Chiwanga FS, Chuluunbat T, Cieslik K, Cockcr… See abstract for full author list ➔ Global Retinoblastoma Study Group, et al. Among authors: elder je. JAMA Oncol. 2020 May 1;6(5):685-695. doi: 10.1001/jamaoncol.2019.6716. JAMA Oncol. 2020. PMID: 32105305 Free PMC article.
Recurrent Rare Copy Number Variants Increase Risk for Esotropia.
Whitman MC, Di Gioia SA, Chan WM, Gelber A, Pratt BM, Bell JL, Collins TE, Knowles JA, Armoskus C, Pato M, Pato C, Shaaban S, Staffieri S, MacKinnon S, Maconachie GDE, Elder JE, Traboulsi EI, Gottlob I, Mackey DA, Hunter DG, Engle EC; Strabismus Genetics Research Consortium. Whitman MC, et al. Invest Ophthalmol Vis Sci. 2020 Aug 3;61(10):22. doi: 10.1167/iovs.61.10.22. Invest Ophthalmol Vis Sci. 2020. PMID: 32780866 Free PMC article.
1,676 results