Peter Meinecke

Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.

L. Shaffer, W. Hul, C. Powell, 1996, American journal of human genetics.

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

G. Mortier, R. Hennekam, G. Nürnberg, 2007, American journal of human genetics.

Location and type of mutation in the LIS1 gene do not predict phenotypic severity

J. Winkler, U. Bogdahn, G. Schuierer, 2007, Neurology.

Hemiplegic cerebral palsy and the factor V Leiden mutation

G. Mortier, S. Uhrig, R. Newbury-Ecob, 2000, Journal of medical genetics.

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

S. Mundlos, S. Tinschert, G. Gillessen‐kaesbach, 2000, American journal of human genetics.

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

R. Hennekam, J. Tolmie, G. Mortier, 2007, American Journal of Human Genetics.

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

G. Mortier, D. Fitzpatrick, R. Hennekam, 2007, American journal of human genetics.

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

N. Niikawa, K. Devriendt, R. Hennekam, 2001, American journal of human genetics.