Stefanie Birnbaum

Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24

Stefanie Birnbaum, Kerstin U. Ludwig, Heiko Reutter et al. · Nature Genetics · 2009 · 475 citations

Cleft Lip, Chromatin, Developmental Biology +13

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

Elisabeth Mangold, Kerstin U. Ludwig, Stefanie Birnbaum et al. · Nature Genetics · 2009 · 435 citations · Full text

Genome-wide Association Study, Nonsyndromic Cleft Lip, Genetics +9

Severe mental retardation with breathing abnormalities (Pitt–Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4

Antje Brockschmidt, Unda Todt, Soojin Ryu et al. · Human Molecular Genetics · 2007 · 169 citations · Full text

Brain Development, Genetics, Pathology +22

<i>IRF6</i> gene variants in Central European patients with non‐syndromic cleft lip with or without cleft palate

Stefanie Birnbaum, Kerstin U. Ludwig, Heiko Reutter et al. · European Journal Of Oral Sciences · 2009 · 53 citations · Full text

Homozygous <i>FGF3 </i>mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia

Mustafa Tekin, Hatice Akay, Suat Fítöz et al. · Clinical Genetics · 2008 · 51 citations

Genetics, Inner Ear Agenesis, Pathology +18