1.
Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome
by Patel, Nisha
American journal of human genetics, 2014-05-01, Vol.94 (5), p.755-759
2.
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing
by Wang, Xia
Journal of medical genetics, 2013-10, Vol.50 (10), p.674-688
3.
Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1
by Li, Sisi
Molecular genetics and genomics : MGG, 2018-01-10, Vol.293 (3), p.699-710
4.
Childhood retinal dystrophies: what's in a name?
by Traboulsi, Elias I
British journal of ophthalmology, 2013-03, Vol.97 (3), p.247-247
5.
The Use of a Mobile Van for School Vision Screening: Results of 63 841 Evaluations
by Griffith, Joseph F
American journal of ophthalmology, 2016, Vol.163, p.108-114.e1
6.
Performance of Patients With Deficient Stereoacuity on the EYESi Microsurgical Simulator
by Sachdeva, Reecha
American journal of ophthalmology, 2011, Vol.151 (3), p.427-433.e1
7.
Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies
by Di Gioia, Silvio Alessandro
American journal of human genetics, 2018-07-05, Vol.103 (1), p.115-124
8.
Corneal Deformation Response and Ocular Geometry: A Noninvasive Diagnostic Strategy in Marfan Syndrome
by Beene, Lauren C
American journal of ophthalmology, 2016, Vol.161, p.56-64.e1
9.
Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease
by Miraldi Utz, Virginia
British journal of ophthalmology, 2014-04, Vol.98 (4), p.513-518
10.
Comparison of inferior oblique myectomy to recession for the treatment of superior oblique palsy
by Bahl, Reecha S
British journal of ophthalmology, 2013-02, Vol.97 (2), p.184-188
11.
Duane Syndrome in the Setting of Chromosomal Duplications
by Smith, Sarah B
American journal of ophthalmology, 2010, Vol.150 (6), p.932-938.e1
12.
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population
by Billingsley, Gail
Journal of medical genetics, 2010-07, Vol.47 (7), p.453-463
13.
Retinal histopathology in eyes from patients with autosomal dominant retinitis pigmentosa caused by rhodopsin mutations
by Bonilha, Vera L
Graefe's archive for clinical and experimental ophthalmology, 2015-07-23, Vol.253 (12), p.2161-2169
14.
Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2
by Li, Anren
American journal of human genetics, 2004, Vol.74 (5), p.817-826
15.
Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations
by Bonilha, Vera L
Graefe's archive for clinical and experimental ophthalmology, 2014-12-11, Vol.253 (2), p.295-305
16.
X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development
by Webb, Tom R
American journal of human genetics, 2012-02-10, Vol.90 (2), p.247-259
17.
The Value of Keratometry and Central Corneal Thickness Measurements in the Clinical Diagnosis of Marfan Syndrome
by Heur, Martin
American journal of ophthalmology, 2008, Vol.145 (6), p.997-1001.e1
18.
Identification of Three ABCA4 Sequence Variations Exclusive to African American Patients in a Cohort of Patients With Stargardt Disease
by Utz, Virginia Miraldi
American journal of ophthalmology, 2013, Vol.156 (6), p.1220-1227.e2
19.
X-Linked Cone-Rod Dystrophy (Locus COD1): Identification of Mutations in RPGR Exon ORF15
by Demirci, F. Yesim K
American journal of human genetics, 2002, Vol.70 (4), p.1049-1053
20.
Hope and major strides for genetic diseases of the eye
by Traboulsi, Elias I
Journal of genetics, 2009-12-31, Vol.88 (4), p.395-397
