Beate Albrecht

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf et al. · The Lancet · 2012 · 1.1K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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 · 753 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

Parastoo Momeni, Gernot Glöckner, Olaf Schmidt et al. · Nature Genetics · 2000 · 374 citations

Life Sciences, Genetics, Molecular Genetics +10

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

Huiling He, Sandya Liyanarachchi, Keiko Akagi et al. · Science · 2011 · 261 citations

Life Sciences, Genetics, Molecular Genetics +14

Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

H.‐J. Lüdecke, Jörg Schaper, Peter Meinecke et al. · The American Journal of Human Genetics · 2001 · 234 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6