Hermann Schwarzenbacher

The paper identifies a 1-bp deletion in QRICH2 as a recessive cause of low sperm count and immotile sperm with morphological abnormalities in Brown Swiss bulls.

The paper identifies a recessive allele in WDR19 associated with reduced semen quality and male fertility in cattle, showing it activates cryptic splicing and reduces protein expression.

This study identifies a missense mutation in TUBD1 linked to high juvenile mortality in Braunvieh and Fleckvieh cattle, associated with chronic airway disease due to defective cilia.

The paper identifies a frameshift mutation in GON4L causing dwarfism in Fleckvieh cattle by linking it to growth restriction and craniofacial abnormalities through genomic analysis.

The paper uses imputed sequence variants from key ancestors to identify twelve QTL for mammary gland morphology in Fleckvieh cattle, highlighting regulatory mutations as key factors.