Katharina Steindl

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Gillian Rice, Paul R. Kasher, Gabriella Forte et al. · Nature Genetics · 2012 · 943 citations

Life Sciences, Genetics, Molecular Genetics +9

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

Michele Gabriele, Anneke T. Vulto‐van Silfhout, Pierre‐Luc Germain et al. · The American Journal of Human Genetics · 2017 · 170 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Natalie D. Shaw, Harrison Brand, Zachary A Kupchinsky et al. · Nature Genetics · 2017 · 162 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

Michael S. Nahorski, Sateesh Maddirevula, Ryosuke Ishimura et al. · Brain · 2018 · 119 citations · Full text

Life Sciences, Genetics, Neuroscience +16

The clinical significance of small copy number variants in neurodevelopmental disorders

Reza Asadollahi, Beatrice Oneda, Pascal Joset et al. · Journal of Medical Genetics · 2014 · 103 citations · Full text

Public Health, Health Behavior, Environmental Health +14