Kinga M. Bujakowska

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

Mark Consugar, Daniel Navarro-Gomez, Emily Place et al. · Genetics in Medicine · 2014 · 252 citations · Full text

Inherited Eye Diseases, Genetic Testing, Genetic Disorder +11

TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

Isabelle Audo, Susanne Kohl, Bart P. Leroy et al. · The American Journal of Human Genetics · 2009 · 250 citations · Full text

Ophthalmology, Genetic Disorder, Genetics +2

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

Isabelle Audo, Kinga M. Bujakowska, Thierry Léveillard et al. · Orphanet Journal of Rare Diseases · 2012 · 171 citations · Full text

Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome

Kinga M. Bujakowska, Qi Zhang, Anna M. Siemiatkowska et al. · Human Molecular Genetics · 2014 · 155 citations · Full text

Ocular Disease, Developmental Biology, Retina +15

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 144 citations · Full text