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American Journal of Medical Genetics. Part A|November 28, 2020
Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental surveyKatherine Abell, Robert J Hopkin, Patricia L Bender, et al.Plos One|March 28, 2017
A tissue-specific role for intraflagellar transport genes during craniofacial developmentElizabeth N Schock, Jaime N Struve, Ching-Fang Chang, et al.G3 (Bethesda, Md.)|December 7, 2017
Optimizing Genomic Methods for Mapping and Identification of Candidate Variants in ENU Mutagenesis Screens Using Inbred MiceKrista A Geister, Andrew E Timms, David R BeierGenes, Brain, and Behavior|September 6, 2016
A heterozygous mutation in tubulin, beta 2B ( Tubb2b ) causes cognitive deficits and hippocampal disorganizationRolf W Stottmann, Ashley Driver, Arnold Gutierrez, et al.HGG Advances|January 9, 2026
Recessive AARS1 variants perturb human and mouse developmentJennifer L Watts, Nicole Costantino, Ammar Husami, et al.Genesis (New York, N.Y. : 2000)|October 31, 2018
Using human sequencing to guide craniofacial researchRyan P Liegel, Erin Finnerty, Lauren Blizzard, et al.Human Molecular Genetics|March 12, 2015
A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasiaHoward M Saal, Cynthia A Prows, Iris Guerreiro, et al.American Journal of Medical Genetics. Part A|April 2, 2024
The society for craniofacial genetics and developmental biology 46th annual meetingSamantha A Brugmann, David E Clouthier, Katherine A Fantauzzo, et al.Plos One|September 3, 2015
Everolimus Stabilizes Podocyte Microtubules via Enhancing TUBB2B and DCDC2 ExpressionStefanie Jeruschke, Kay Jeruschke, Andrew DiStasio, et al.American Journal of Medical Genetics. Part A|October 11, 2025
De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental DisorderIftekhar A Showpnil, Allison Daley, Emily R Sites, et al.Pageof 15