MR Zentrum Essen

Loos HS, Wieczorek D, Würtz RP, von der Malsburg C, Horsthemke B. Computer-based recognition of dysmorphic faces. (2003). Eur J Hum Genet 11:555-560 MEDLINE
Boehringer S, Vollmar T, Tasse C, Wurtz RP, Gillessen-Kaesbach G, Horsthemke B, Wieczorek D. (2006) Syndrome identification based on 2D analysis software. Eur J Hum Genet 14:1082-1089
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Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, Kure S, Matsubara Y. (2006). Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet 38:294-296 MEDLINE

Wieczorek D, Ludwig M, Boehringer S, Jongbloet PH, Gillessen-Kaesbach G, Horsthemke B. (2007). Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome. Hum Genet 121:369-376 MEDLINE

Tasse C, Majewski F, Bohringer S, Fischer S, Ludecke HJ, Gillessen-Kaesbach G, Wieczorek D. (2007). A family with autosomal dominant oculo-auriculo-vertebral spectrum. Clin Dysmorphol 16:1-7 MEDLINE

Wieczorek D, Shaw-Smith C, Kohlhase J, Schmitt W, Buiting K, Coffey A, Howard E, Hehr U, Gillessen-Kaesbach G. (2007). Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation – new MCA/MR syndrome in two affected sibs and a mildly affected mother? Am J Med Genet 143(11):1135-1142 MEDLINE

Fischer S, Kohlhase J, Böhm D, Schweiger B, Hoffmann D, Heitmann M, Horsthemke B, Wieczorek D. (2008). Biallelic Loss of Function of the Promyelocytic Leukaemia Zinc Finger (PLZF) Gene Causes Severe Skeletal Defects and Genital Hypoplasia. J Med Genet (epub ahead of print) MEDLINE