Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies

Amit K. Tiwari, Angela Bahr, Luzy Bähr, +8

Scientific Reports

Biallelic Mutations in<i>CRB1</i>Underlie Autosomal Recessive Familial Foveal Retinoschisis

Ajoy Vincent, Judith Ng, Christina Gerth‐Kahlert, +15

Investigative Ophthalmology & Visual Science

Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract

Delia Rechsteiner, Lydia S. Issler, Samuel Koller, +15

JAMA Ophthalmology

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders

Miriam S. Reuter, Jörn Oliver Sass, Thomas Leis, +10

American Journal of Medical Genetics Part A

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes

Patricia Haug, Samuel Koller, Jordi Maggi, +8

Genes

Genotype–phenotype spectrum in isolated and syndromic nanophthalmos

Elena Lang, Samuel Koller, David Atac, +14

Acta Ophthalmologica

Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals <i>CYP1B1</i> and <i>FOXC1</i> Variants as Most Frequent Causes

Elena Lang, Samuel Koller, Luzy Bähr, +8

Translational Vision Science & Technology

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases

Jordi Maggi, Samuel Koller, Luzy Bähr, +6

International Journal of Molecular Sciences