Alina C. Hilger

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

Daw‐Yang Hwang, Gabriel C. Dworschak, Stefan Kohl et al. · Kidney International · 2014 · 256 citations · Full text

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

Pawaree Saisawat, Stefan Kohl, Alina C. Hilger et al. · Kidney International · 2013 · 127 citations · Full text

Biology, Genetic Disorder, Natural Sciences +9

Mild Recessive Mutations in Six Fraser Syndrome–Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract

Stefan Kohl, Daw‐Yang Hwang, Gabriel C. Dworschak et al. · Journal of the American Society of Nephrology · 2014 · 108 citations · Full text

Genetics, Renal Pathology, Pathology +17

Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract

Daw‐Yang Hwang, Stefan Kohl, Xueping Fan et al. · Human Genetics · 2015 · 67 citations · Full text

Urology, Developmental Biology, Molecular Physiology +7

De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL‐like association and analysis of <i>EFNB2</i> in patients with anorectal malformations

Gabriel C. Dworschak, Markus Draaken, Carlo Marcelis et al. · American Journal of Medical Genetics Part A · 2013 · 66 citations