Verena Matejas

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Saskia F. Heeringa, Gil Chernin, Moumita Chaki et al. · Journal of Clinical Investigation · 2011 · 394 citations · Full text

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A. Braun, Jia Rao, Géraldine Mollet et al. · Nature Genetics · 2017 · 212 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +5

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders

K Hasselbacher, Roger C. Wiggins, Verena Matejas et al. · Kidney International · 2006 · 210 citations · Full text

Mendelian Disorder, Genetic Disorder, Animal Science +12

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)

Dominik S. Schoeb, Gil Chernin, Saskia F. Heeringa et al. · Nephrology Dialysis Transplantation · 2010 · 87 citations · Full text

Ophthalmological Aspects of Pierson Syndrome

Cecilie Bredrup, Verena Matejas, Margaret Barrow et al. · American Journal of Ophthalmology · 2008 · 80 citations · Full text

Pierson Syndrome, Ocular Disease, Ophthalmology +3