Ethylin W. Jabs

Johns Hopkins University, Baltimore, MD 
Molecular Biology
"Ethylin Jabs"
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Whitman MC, Barry BJ, Robson CD, et al. (2021) TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy. Human Genetics
Singh R, Cohen ASA, Poulton C, et al. (2021) Deletion of and causes abnormal skull morphology and global developmental delay. Cold Spring Harbor Molecular Case Studies. 7
Lam AS, Liu CC, Deutsch GH, et al. (2020) Genotype-Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice. The Laryngoscope
Holmes G, Gonzalez-Reiche AS, Lu N, et al. (2020) Integrated Transcriptome and Network Analysis Reveals Spatiotemporal Dynamics of Calvarial Suturogenesis. Cell Reports. 32: 107871
Perrine SMM, Wu M, Stephens NB, et al. (2019) Mandibular dysmorphology due to abnormal embryonic osteogenesis in FGFR2-related craniosynostosis mice. Disease Models & Mechanisms
Sewda A, White SR, Erazo M, et al. (2019) Nonsyndromic craniosynostosis: novel coding variants. Pediatric Research
Holmes G, O'Rourke C, Perrine SMM, et al. (2018) Midface and upper airway dysgenesis in FGFR2-craniosynostosis involves multiple tissue-specific and cell cycle effects. Development (Cambridge, England)
Holmes G, Zhang L, Rivera J, et al. (2018) C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model. Plos One. 13: e0201492
Reiner J, Pisani L, Qiao W, et al. (2018) Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion. Npj Genomic Medicine. 3: 3
Motch Perrine SM, Stecko T, Neuberger T, et al. (2017) Integration of Brain and Skull in Prenatal Mouse Models of Apert and Crouzon Syndromes. Frontiers in Human Neuroscience. 11: 369
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