Diagnostic exome sequencing in 266 Dutch patients with visual impairment

Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing

(2015) Xiu-Feng Huang et al.   GENETICS IN MEDICINE

Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies

(2015) Kristy Lee et al.   GENETICS IN MEDICINE

Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy

(2015) Susanne Roosing et al.   OPHTHALMOLOGY

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

(2014) Susanne Roosing et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Personalized Diagnosis and Management of Congenital Cataract by Next-Generation Sequencing

(2014) Rachel L. Gillespie et al.   OPHTHALMOLOGY

Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations

(2014) Koji M. Nishiguchi et al.   OPHTHALMOLOGY

Clinical Characteristics and Current Therapies for Inherited Retinal Degenerations

(2014) J.-A. Sahel et al.   Cold Spring Harbor Perspectives in Medicine

Genetic testing for inherited ocular disease: delivering on the promise at last?

(2013) Rachel L Gillespie et al.   CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Understanding the impact of genetic testing for inherited retinal dystrophy

(2013) Ryan Combs et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1

(2013) Ivan Prokudin et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

(2013) Kornelia Neveling et al.   HUMAN MUTATION

Genetic Testing for Inherited Eye Disease

(2013) Janey L. Wiggs et al.   JAMA Ophthalmology

Next-generation genetic testing for retinitis pigmentosa

(2012) Kornelia Neveling et al.   HUMAN MUTATION

Retinitis pigmentosa and allied conditions today: a paradigm of translational research

(2010) Carmen Ayuso et al.   Genome Medicine

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION