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Human Genetics|February 17, 2010
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephalyUte Hehr, Daniel E Pineda-Alvarez, Goekhan Uyanik, et al.Molecular Genetics and Metabolism|January 14, 2011
Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephalyEmily F Kauvar, Ping Hu, Daniel E Pineda-Alvarez, et al.Human Mutation|July 16, 2009
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesisErich Roessler, Kenia B El-Jaick, Christèle Dubourg, et al.Molecular Genetics and Metabolism|June 26, 2009
Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephalyErich Roessler, Wuhong Pei, Maia V Ouspenskaia, et al.Human Mutation|July 12, 2018
Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signalingErich Roessler, Ping Hu, Juliana Marino, et al.Journal of Medical Genetics|April 19, 2014
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephalyKelly A Bear, Benjamin D Solomon, Sonir Antonini, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2017
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristicsKarin Weiss, Paul Kruszka, Maria J Guillen Sacoto, et al.Journal of Medical Genetics|December 4, 2009
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individualsBenjamin D Solomon, Felicitas Lacbawan, Sandra Mercier, et al.Journal of Medical Genetics|July 14, 2012
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic HedgehogBenjamin D Solomon, Kelly A Bear, Adrian Wyllie, et al.Pageof 5