Claudia Dafinger

Loss of Cav1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness

Shahid Mahmood Baig, Alexandra Koschak, Andreas Lieb et al. · Nature Neuroscience · 2010 · 313 citations

Congenital Deafness, Channelopathies, Human Channelopathy +5

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

Inga Ebermann, Jennifer B. Phillips, Max C. Liebau et al. · Journal of Clinical Investigation · 2010 · 242 citations · Full text

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

Claudia Dafinger, Max C. Liebau, Solaf M. Elsayed et al. · Journal of Clinical Investigation · 2011 · 208 citations

Specific Brain Malformation, Developmental Biology, Mendelian Disorder +14

Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants

Kathrin Burgmaier, Leonie Violetta Brinker, Florian Erger et al. · Kidney International · 2021 · 81 citations · Full text

Urology, Genetic Disorder, Medicine +12

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

Tobias Eisenberger, Rima Slim, Ahmad M. Mansour et al. · Orphanet Journal of Rare Diseases · 2012 · 78 citations · Full text