We conducted a genome-wide association study involving 224 cases and 383 controls of
Central European origin to identify susceptibility loci for nonsyndromic cleft lip with or without …

We conducted a genome-wide association study for nonsyndromic cleft lip with or without
cleft palate (NSCL/P) in 401 affected individuals and 1,323 controls, with replication in an …

We have conducted the first meta-analyses for nonsyndromic cleft lip with or without cleft
palate (NSCL/P) using data from the two largest genome-wide association studies published to …

Many monogenic disorders cause a characteristic facial morphology. Artificial intelligence can
support physicians in recognizing these patterns by associating facial phenotypes with the …

Germline mutations in the STK11 gene have been identified in 10–70% of patients with
Peutz‐Jeghers syndrome (PJS), an autosomal‐dominant hamartomatous polyposis syndrome. A …

Non-syndromic cleft lip with palate (NSCLP) is the most serious sub-phenotype of non-syndromic
orofacial clefts (NSOFC), which are the most common craniofacial birth defects in …

… Jens Plaschke, Christoph Engel, Stefan Krüger, Elke Holinski-Feder, Constanze
Pagenstecher, Elisabeth Mangold, Gabriela Moeslein, Karsten Schulmann, Johannes Gebert …

Genome integrity is continuously challenged by the DNA damage that arises during normal
cell metabolism. Biallelic mutations in the genes encoding the genome surveillance enzyme …

To determine the frequency, mutation spectrum and phenotype of the recently described
autosomal recessive MUTYH‐associated polyposis (MAP), we performed a systematic search …

Background & aims: The risk for small bowel cancer (SBC) is significantly increased in
hereditary nonpolyposis colorectal cancer (HNPCC). HNPCC-associated SBCs are poorly …