Martin Zenker

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

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies

Laura Southgate, Maja Sukalo, Anastasios Stylianos Karountzos et al. · Circulation Cardiovascular Genetics · 2015 · 101 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

Neurodevelopmental deficits in Pierson (microcoria‐congenital nephrosis) syndrome

Elke Wühl, Jillene Kogan, Aleksandra Żurowska et al. · American Journal of Medical Genetics Part A · 2007 · 66 citations

A milder variant of Pierson syndrome

Mikhail Kagan, Arthur H. Cohen, Verena Matejas et al. · Pediatric Nephrology · 2007 · 64 citations

Pierson Syndrome, Genetic Disorder, Mendelian Disorder +1