Single Suture Craniosynostosis: Gene and Pathway Discovery

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

C. Justice, Garima Yagnik, Yoonhee Kim, et al.. (2012). Nature Genetics. Cited 118 times. https://doi.org/10.1038/ng.2463

Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations

M. Seto, A. Hing, Jocelyn Chang, et al.. (2007). American Journal of Medical Genetics Part A. Cited 106 times. https://doi.org/10.1002/ajmg.a.31630

Copy Number Variation Analysis in Single-Suture Craniosynostosis: Multiple Rare Variants Including RUNX2 Duplication in Two Cousins With Metopic Craniosynostosis

H. Mefford, Neil Shafer, F. Antonacci, et al.. (2010). American Journal of Medical Genetics. Part a. Cited 80 times. https://doi.org/10.1002/ajmg.a.33557

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

E. Calpena, Araceli Cuellar, K. Bala, et al.. (2020). Genetics in Medicine. Cited 45 times. https://doi.org/10.1038/s41436-020-0817-2

Differential Expression of Extracellular Matrix-Mediated Pathways in Single-Suture Craniosynostosis

B. Stamper, Sarah S. Park, R. Beyer, et al.. (2011). PLoS ONE. Cited 43 times. https://doi.org/10.1371/journal.pone.0026557

Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms

C. Clarke, V. T. Fok, J. Gustafson, et al.. (2018). American Journal of Medical Genetics Part A. Cited 40 times. https://doi.org/10.1002/ajmg.a.38540

IGF1R variants associated with isolated single suture craniosynostosis

M. Cunningham, J. Horst, M. Rieder, et al.. (2011). American Journal of Medical Genetics Part A. Cited 32 times. https://doi.org/10.1002/ajmg.a.33781

ALX4 gain‐of‐function mutations in nonsyndromic craniosynostosis

Garima Yagnik, Apar Ghuman, Sun-Don Kim, et al.. (2012). Human Mutation. Cited 29 times. https://doi.org/10.1002/humu.22166

A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis

C. Justice, Araceli Cuellar, K. Bala, et al.. (2020). Human Genetics. Cited 28 times. https://doi.org/10.1007/s00439-020-02157-z

Cell Mechanics of Craniosynostosis.

Z. Al-Rekabi, M. Cunningham, N. Sniadecki. (2017). ACS biomaterials science & engineering. Cited 23 times. https://doi.org/10.1021/ACSBIOMATERIALS.6B00557

Osteoblast differentiation profiles define sex specific gene expression patterns in craniosynostosis.

Sarah S. Park, R. Beyer, M. Smyth, et al.. (2015). Bone. Cited 22 times. https://doi.org/10.1016/j.bone.2015.03.001

Activation of the IGF1 pathway mediates changes in cellular contractility and motility in single-suture craniosynostosis

Z. Al-Rekabi, Marsha M. Wheeler, Andrea Leonard, et al.. (2016). Journal of Cell Science. Cited 17 times. https://doi.org/10.1242/jcs.175976

Transcriptome correlation analysis identifies two unique craniosynostosis subtypes associated with IRS1 activation.

B. Stamper, B. Mecham, S. Park, et al.. (2012). Physiological genomics. Cited 16 times. https://doi.org/10.1152/physiolgenomics.00085.2012

MAPK/ERK Signaling Pathway Analysis in Primary Osteoblasts from Patients with Nonsyndromic Sagittal Craniosynostosis

Sun-Don Kim, Garima Yagnik, M. Cunningham, et al.. (2014). The Cleft Palate-Craniofacial Journal. Cited 8 times. https://doi.org/10.1597/12-136

Calvarial osteoblast gene expression in patients with craniosynostosis leads to novel polygenic mouse model

Jonas A. Gustafson, Sarah S. Park, M. Cunningham. (2019). PLoS ONE. Cited 8 times. https://doi.org/10.1371/journal.pone.0221402

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders

E. Calpena, Maud Wurmser, S. McGowan, et al.. (2021). Journal of Medical Genetics. Cited 7 times. https://doi.org/10.1136/jmedgenet-2020-107459

Unique Sex-Based Approach Identifies Transcriptomic Biomarkers Associated with Non-Syndromic Craniosynostosis

B. Stamper, Sarah S. Park, R. Beyer, et al.. (2012). Gene Regulation and Systems Biology. Cited 5 times. https://doi.org/10.4137/GRSB.S9693