Kinga M. Bujakowska

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 · 262 citations · Full text

Life Sciences, Genetics, Neuroscience +10

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 184 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 172 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 160 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

Christina Zeitz, Samuel G. Jacobson, Christian Hamel et al. · The American Journal of Human Genetics · 2012 · 138 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11