Stefanie Birnbaum
Publications by Year
Research Areas
Cleft Lip and Palate Research, Craniofacial Disorders and Treatments, Congenital Ear and Nasal Anomalies, Genomic variations and chromosomal abnormalities, dental development and anomalies
Most-Cited Works
- → Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24(2009)477 cited
- → Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate(2009)437 cited
- → Severe mental retardation with breathing abnormalities (Pitt–Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4(2007)170 cited
- → Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis(2001)55 cited
- → IRF6 gene variants in Central European patients with non‐syndromic cleft lip with or without cleft palate(2009)53 cited
- → Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia(2008)51 cited
- → Genome‐wide linkage scan of nonsyndromic orofacial clefting in 91 families of central European origin(2009)43 cited
- → Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patients(2009)43 cited
- → TGFB3 displays parent-of-origin effects among central Europeans with nonsyndromic cleft lip and palate(2008)36 cited
- → Mutation screening in theIRF6‐gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal‐dominant inheritance(2008)29 cited