Jacqueline A.C. Goos
Publications by Year
Research Areas
Craniofacial Disorders and Treatments, Cleft Lip and Palate Research, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis(2013)219 cited
- → Diagnostic value of exome and whole genome sequencing in craniosynostosis(2016)120 cited
- → Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability(2015)79 cited
- → Distribution of Glycine/GABA Neurons in the Ventromedial Medulla with Descending Spinal Projections and Evidence for an Ascending Glycine/GABA Projection(2012)70 cited
- → Genetic Causes of Craniosynostosis: An Update(2018)66 cited
- → De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder(2019)62 cited
- → Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1(2013)52 cited
- → De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder(2018)48 cited
- → Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency(2020)37 cited
- → Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis(2013)34 cited