Merlin Airik

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

Daniela A. Braun, Carolin E. Sadowski, Stefan Kohl et al. · Nature Genetics · 2016 · 222 citations · Full text

Medicine, Genetics, Molecular Genetics +12

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

Daniela A. Braun, Jia Rao, Géraldine Mollet et al. · Nature Genetics · 2017 · 221 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Svjetlana Lovric, Sara Gonçalves, Heon Yung Gee et al. · Journal of Clinical Investigation · 2017 · 208 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

Shazia Ashraf, Hiroki Kudo, Jia Rao et al. · Nature Communications · 2018 · 126 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Mutations in <i>WDR4</i> as a new cause of Galloway–Mowat syndrome

Daniela A. Braun, Shirlee Shril, Aditi Sinha et al. · American Journal of Medical Genetics Part A · 2018 · 101 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17