Barbara Vona

<scp>DFNB16</scp> is a frequent cause of congenital hearing impairment: implementation of <i><scp>STRC</scp></i> mutation analysis in routine diagnostics

Barbara Vona, Michaela A. H. Hofrichter, Cordula Neuner et al. · Clinical Genetics · 2013 · 109 citations · Full text

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations

Barbara Vona, Tobias Müller, Indrajit Nanda et al. · Genetics in Medicine · 2014 · 104 citations · Full text

Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion

Caroline Lekszas, Ombretta Foresti, Ishier Raote et al. · eLife · 2020 · 74 citations · Full text

Pathology, Disease Gene Identification, Full Length Tango1 +21

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

Yuh‐Charn Lin, Marcello Niceta, Valentina Muto et al. · The American Journal of Human Genetics · 2020 · 64 citations · Full text

Developmental Anomaly, Sclerostin, Developmental Biology +9

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

Alistair T. Pagnamenta, Edoardo Giacopuzzi, John Taylor et al. · Genome Medicine · 2023 · 63 citations · Full text