S. Fischer

Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia

D. Wieczorek, B. Horsthemke, D. Böhm, 2008, Journal of Medical Genetics.

Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum.

D. Wieczorek, S. Böhringer, B. Horsthemke, 2006, Human molecular genetics.

A family with autosomal dominant oculo-auriculo-vertebral spectrum

D. Wieczorek, S. Böhringer, G. Gillessen‐kaesbach, 2007, Clinical dysmorphology.

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome

N. de Leeuw, B. Gener, L. Hoefsloot, 2009, American journal of medical genetics. Part A.

Erratum: Localisation of a gene implicated in a severe speech and language disorder (Nature Genetics (1998) 18 (168-170))

A. Monaco, F. Vargha-Khadem, K. Watkins, 1998 .

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.

D. Horn, B. Lorenz, D. Wieczorek, 2005, European journal of medical genetics.

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

Jürgen Kunze, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2004, European Journal of Human Genetics.

Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia

D. Wieczorek, B. Horsthemke, D. Böhm, 2008, Journal of Medical Genetics.