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 · 916 citations · Full text

Autoimmune Disease, Genetic Disorder, Genetics +7

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 · 160 citations · Full text

Rare Diseases, Smchd1 Mutations, Mendelian Disorder +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 · 159 citations · Full text

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 · 112 citations · Full text

Biallelic Ufm1, Brain Development, Genetics +17

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Heterozygous Variants +8