Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

Jack J. Collier, Claire Guissart, Monika Oláhová, +28

New England Journal of Medicine

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

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun, +39

Molecular Psychiatry

Setd1a HaploinsufficiencyDevelopmental BiologyGenetic DisorderDevelopmental GeneticsGenetics +9

The evolution of MHC diversity: Evidence of intralocus gene conversion and recombination in a single-locus system

Angela Bahr, Anthony B. Wilson

Gene

ImmunogeneticsMedicineGeneticsEvolutionary BiologySingle-locus System +10

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

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

Investigative Ophthalmology & Visual Science

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

Paolo Zanoni, Katharina Steindl, Deepanwita Sengupta, +31

Genetics in Medicine

Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis

Argelia Medeiros‐Domingo, Ardan M. Saguner, I Magyar, +4

EP Europace

Mutual mate choice in the potbellied seahorse (Hippocampus abdominalis)

Angela Bahr, Stefan Sommer, Beat Mattle, +1

Behavioral Ecology

Breeding BehaviorFitnessEducationSexual SelectionReproductive Biology +14

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