Orphanet J Rare Dis

High content drug screening for Fanconi anemia therapeutics.

Montanuy H, Camps-Fajol C, Carreras-Puigvert J, ..., Minguillón J, Surrallés J

Orphanet J Rare Dis 15 (1) 170 [2020-06-30; online 2020-06-30]

Drug Discovery and Development (DDD)

Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta.

Andersson K, Malmgren B, Åström E, ..., Taylan F, Dahllöf G

Orphanet J Rare Dis 15 (1) 80 [2020-03-31; online 2020-03-31]

NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.

Tegelberg S, Tomašić N, Kallijärvi J, ..., Eklund EA, Fellman V

Orphanet J Rare Dis 12 (1) 73 [2017-04-20; online 2017-04-20]

Clinical Genomics Stockholm [Service]