Ulrika Kjellström

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

Konstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco et al. · The American Journal of Human Genetics · 2016 · 57 citations · Full text

Primary-cilia Defects, Genetic Disorder, Genetics +5

Ataxia-pancytopenia syndrome with <i>SAMD9L</i> mutations

Sorina Gorcenco, Jonna Komulainen‐Ebrahim, Karin Nordborg et al. · Neurology Genetics · 2017 · 34 citations · Full text

Attenuation of the retinal nerve fibre layer and reduced retinal function assessed by optical coherence tomography and full‐field electroretinography in patients exposed to vigabatrin medication

Ulrika Kjellström, Sten Andréasson, Vesna Ponjavic · Acta Ophthalmologica · 2013 · 31 citations · Full text

An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS

Anna Maria Tracewska-Siemiatkowska, Lonneke Haer‐Wigman, Daniëlle G.M. Bosch et al. · Genes · 2017 · 27 citations · Full text

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Daan M. Panneman, Rebekkah J. Hitti‐Malin, Lara K. Holtes et al. · Frontiers in Cell and Developmental Biology · 2023 · 26 citations · Full text