Hanno J. Bolz

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

Hanno J. Bolz, Benigna von Brederlow, Alfredo Ramı́rez et al. · Nature Genetics · 2001 · 493 citations

Genetic Disorder, Genetics, Pathogenesis +6

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

Jutta Becker, Oliver Semler, Christian Gilissen et al. · The American Journal of Human Genetics · 2011 · 354 citations · Full text

Sclerostin, Developmental Biology, Mendelian Disorder +10

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

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

Inga Ebermann, Hendrik P. N. Scholl, Peter Charbel Issa et al. · Human Genetics · 2006 · 229 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +9