Ethylin Wang Jabs

Systematic phenotype and genotype characterization of Moebius syndrome

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Inability to move one's face dampens facial expression perception

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

A framework for the evaluation of patients with congenital facial weakness

Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies

FaceBase 3: analytical tools and FAIR resources for craniofacial and dental research

Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Identification of <i>STAC3</i> variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome

The FaceBase Consortium: A comprehensive resource for craniofacial researchers

Morphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues

Quantitative Assessment of Facial Asymmetry Using Three-Dimensional Surface Imaging in Adults: Validating the Precision and Repeatability of a Global Approach

A Novel ZRS Mutation Leads to Preaxial Polydactyly Type 2 in a Heterozygous Form and Werner Mesomelic Syndrome in a Homozygous Form

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

Receptor Tyrosine Kinases Activate Canonical WNT/β-Catenin Signaling via MAP Kinase/LRP6 Pathway and Direct β-Catenin Phosphorylation

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

HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1 Mice

Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies

<i>OTX2</i> mutations contribute to the otocephaly-dysgnathia complex