Guido J Breedveld

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Carel Meijers, Dick Tibboel, Jan Osinga, 2005, American journal of human genetics.

Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family.

Vincenzo Bonifati, Astrid Thomas, Marco Onofrj, 2015, Parkinsonism & related disorders.

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

Naoto Endo, Peter Heutink, Minoru Shibata, 2002, Proceedings of the National Academy of Sciences of the United States of America.

The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease.

Nobutaka Hattori, Yi-Hsin Weng, Vincenzo Bonifati, 2005, Parkinsonism & related disorders.