Publications

Publications

Barratt KS et al. ZIC2 in Holoprosencephaly. In: Aruga, J. (eds) Zic family. Advances in Experimental Medicine and Biology. 2018, vol 1046. Springer, Singapore. PMID: 29442327.

Barratt KS et al. The Zic2 gene directs the formation and function of node cilia to control cardiac situs.Genesis. 2014 52: 626-635. PMID: 24585447.

Houtmeyers et al. Zic2 mutation causes holoprosencephaly via disruption of NODAL signalling. Hum mol gen. 2016, 25(18), 3946-3959. PMID: 27466203.

Barr M et al. Autosomal recessive alobar holoprosencephaly with essentially normal faces. Am J Med Genet. 2002 112:28–30. PMID: 12239716.

Brown LY et al. In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: Alanine tract expansion modulates DNA binding and transactivation. Hum Mol Genet, 2005 14:411–420. PMID: 15590697.

Elms P et al. Zic2 is required for neural crest formation and hindbrain patterning during mouse development. Dev Biol, 2003, 264:391–406. PMID: 14651926.

Mercier S et al. New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases. J Med Genet. 2011, 48:752–760. PMID: 21940735.

Roessler E et al. The Full Spectrum of Holoprosencephaly-Associated Mutations within the ZIC2 Gene in Humans Predicts Loss-of-Function as the Predominant Disease Mechanism.Hum Mutat.2009a PMID: 19177455.

Roessler E et al. Utilizing prospective sequence analysis of SHH, ZIC2,SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene x gene interactions.Mol Genet Metab. 2012b, 105:658–664. PMID: 22310223.

Solomon BD et al. Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. J Med Genet. 2010a. 47:513–524. PMID: 19955556.

Levey EB et al. Management of children with holoprosencephaly†. Am. J. Med. Genet., 2010, 154C: 183-190. PMID: 20104615.

Shiota K. A life-table analysis of the intrauterine fate of malformed human embryos and fetuses.Birth Defects Research. 2021; 113: 623–632. PMID: 33660946.

Warr N et al. Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation. Hum mol gen. 2008; vol. 17,19: 2986-96. PMID: 18617531.