Jacqueline A.C. Goos

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Vikram Sharma, Aimée L Fenwick, Mia Brockop et al. · Nature Genetics · 2013 · 218 citations · Full text

Frequent Cause, Molecular Biology, Craniofacial Development +6

Diagnostic value of exome and whole genome sequencing in craniosynostosis

Kerry A. Miller, Stephen R.F. Twigg, Simon J. McGowan et al. · Journal of Medical Genetics · 2016 · 120 citations · Full text

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

Stephen R.F. Twigg, Jennifer Forecki, Jacqueline A.C. Goos et al. · The American Journal of Human Genetics · 2015 · 79 citations · Full text

Distribution of Glycine/GABA Neurons in the Ventromedial Medulla with Descending Spinal Projections and Evidence for an Ascending Glycine/GABA Projection

Mehdi Hossaini, Jacqueline A.C. Goos, Somesh K. Kohli et al. · PLoS ONE · 2012 · 70 citations · Full text

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

Eduardo Calpena, Alexia Hervieu, Teresa Kaserer et al. · The American Journal of Human Genetics · 2019 · 62 citations · Full text

Syndromic Developmental Disorder, Mediator Activity, Genetics +19