Beate Albrecht

机构：Essen University Hospital, University of Duisburg-Essen

发表论文 108 篇 · 总被引 8614 次 · h-index 48

代表论文

• Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study (2012 · The Lancet · 被引 1084)
• De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes (2012 · Nature Genetics · 被引 766)
• Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I (2011 · Science · 被引 269)
• A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling (2013 · Human Molecular Genetics · 被引 231)
• Genetics of intellectual disability in consanguineous families (2018 · Molecular Psychiatry · 被引 227)
• Extending the KCNQ2 encephalopathy spectrum (2013 · Neurology · 被引 223)