Exome sequencing in dogs with progressive retinal atrophy to facilitate the development of therapeutic intervention studies

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 54 (15), 3354-3354, 2013

Authors: R Collin, A Henkes, G Astuti, C Gilissen, B Lorenz, A Hoischen, F Cremers, ...

Identification of a novel nonsense mutation in rp1 that causes autosomal recessive retinitis pigmentosa in an indonesian family

MOLECULAR VISION 18, 2411, 2012

Authors: AM Siemiatkowska, GDN Astuti, K Arimadyo, AI den Hollander, ...

Molecular genetic analysis of retinitis pigmentosa in indonesia using genome-wide homozygosity mapping

MOLECULAR VISION 17, 3013, 2011

Authors: AM Siemiatkowska, K Arimadyo, LM Moruz, GDN Astuti, M de Castro-Miro, ...

Hg yntema, ja veltman, and c. gilissen “mutational burden analyses in large-scale exome data identifies novel candidate recessive disease genes”

METHODS FOR DISEASE GENE IDENTIFICATION IN INTELLECTUAL DISABILITY, 113

Authors: SH Lelieveld, R Pfundt, S Castelein, G Astuti, L Haer-Wigman, ...

Common and rare variants in patients with early onset drusen maculopathy

CLINICAL GENETICS, 0

Authors: A de Breuk, YTE Lechanteur, G Astuti, J Corominas Galbany, CCW Klaver, ...

Hg yntema, ja veltman, and c. gilissen “mutational burden analyses in large-scale exome data identifies novel candidate recessive disease genes”

METHODS FOR DISEASE GENE IDENTIFICATION IN INTELLECTUAL DISABILITY, 113, 0

Authors: SH Lelieveld, R Pfundt, S Castelein, G Astuti, L Haer-Wigman, ...