Birgit Zirn

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak et al. · Nature Genetics · 2012 · 737 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +11

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

Hendrik Rosewich, Hölger Thiele, Andreas Ohlenbusch et al. · The Lancet Neurology · 2012 · 263 citations · Full text

Heterozygous De-novo Mutations, Mendelian Disorder, Genetic Disorder +7

Genetics of intellectual disability in consanguineous families

Hao Hu, Kimia Kahrizi, Luciana Musante et al. · Molecular Psychiatry · 2018 · 206 citations

Intellectual Impairment, Complex Trait Genetics, Genetic Disorder +5

Paternally Inherited<i>IGF2</i>Mutation and Growth Restriction

Matthias Begemann, Birgit Zirn, Gijs W.E. Santen et al. · New England Journal of Medicine · 2015 · 186 citations · Full text

Family Members, Human Growth, Genetics +22

Phenotypic spectrum associated with <i>CASK</i> loss-of-function mutations

Ute Moog, Kerstin Kutsche, Fanny Kortüm et al. · Journal of Medical Genetics · 2011 · 136 citations