Amy Merrill-Brugger, BS, PhD

Dr. Amy Merrill received her Ph.D. in Biochemistry and Molecular Biology in 2005 from the University of Southern California. During her doctoral studies she used mouse genetics to discover a novel role for cellular boundaries in the pathogenesis of craniosynostosis. From 2005-2007 she did a postdoctoral fellowship at University of California, San Francisco were she uncovered the unique potential of cranial neural crest cells to autonomously control the timing of bone formation in the developing face. Prior to joining the faculty in the Department of Biochemistry and Molecular Biology at USC in 2010, she completed a fellowship in Medical Genetics at University of California, Los Angeles/Cedars Sinai Medical Center. Her studies in human genetics identified the first disease-causing mutations for Short-rib polydactyly syndrome and establish this lethal skeletal disorder as a ciliopathy. Currently Dr. Merrill’s laboratory studies the disease mechanism for Bent Bone Dysplasia Syndrome.

• University of Southern California: USC Mentoring Award for Faculty Mentoring Graduate Students, 2022
• The Society for Craniofacial Genetics and Developmental Biology: Marylou Buyse Excellence in Craniofacial Research Award, 2019

• Fibroblast growth factor 2 Differentiation. 2023 Oct 12. . View in PubMed
• The Society for Craniofacial Genetics and Developmental Biology 45th Annual Meeting Am J Med Genet A. 2023 07; 191(7):1994-2002. . View in PubMed
• The Society for Craniofacial Genetics and Developmental Biology 44th Annual Meeting Am J Med Genet A. 2022 07; 188(7):2258-2266. . View in PubMed
• MusMorph, a database of standardized mouse morphology data for morphometric meta-analyses Sci Data. 2022 05 25; 9(1):230. . View in PubMed
• The developing mouse coronal suture at single-cell resolution Nat Commun. 2021 08 10; 12(1):4797. . View in PubMed
• Development and maintenance of tendons and ligaments Development. 2021 04 15; 148(8). . View in PubMed
• Nuclear Fibroblast Growth Factor Receptor Signaling in Skeletal Development and Disease Curr Osteoporos Rep. 2019 06; 17(3):138-146. . View in PubMed
• Nuclear FGFR2 regulates musculoskeletal integration within the developing limb Dev Dyn. 2019 03; 248(3):233-246. . View in PubMed
• A requirement for Fgfr2 in middle ear development Genesis. 2019 01; 57(1):e23252. . View in PubMed
• FGF signaling patterns cell fate at the interface between tendon and bone Development. 2019 08 02; 146(15). . View in PubMed
• Prmt1 regulates craniofacial bone formation upstream of Msx1 Mech Dev. 2018 08; 152:13-20. . View in PubMed
• tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis-Cincinnati type Hum Mol Genet. 2018 08 01; 27(15):2628-2643. . View in PubMed
• Ribosome biogenesis is dynamically regulated during osteoblast differentiation Gene. 2017 May 15; 612:29-35. . View in PubMed
• Signaling networks in joint development Dev Dyn. 2017 04; 246(4):262-274. . View in PubMed
• FGFR2 mutations in bent bone dysplasia syndrome activate nucleolar stress and perturb cell fate determination Hum Mol Genet. 2017 09 01; 26(17):3253-3270. . View in PubMed
• Modeling craniofacial and skeletal congenital birth defects to advance therapies Hum Mol Genet. 2016 Oct 01; 25(R2):R86-R93. . View in PubMed
• TGFß and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions PLoS Genet. 2016 Mar; 12(3):e1005936. . View in PubMed
• Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges Am J Med Genet A. 2016 10; 170(10):2652-61. . View in PubMed
• The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome PLoS Genet. 2016 07; 12(7):e1006187. . View in PubMed
• Signaling Pathways in Craniofacial Development: Insights from Rare Skeletal Disorders Curr Top Dev Biol. 2015; 115:493-542. . View in PubMed
• Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription Hum Mol Genet. 2014 Nov 01; 23(21):5659-71. . View in PubMed
• Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders Biochim Biophys Acta. 2014 Jun; 1842(6):769-78. . View in PubMed
• Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling Am J Hum Genet. 2012 Mar 09; 90(3):550-7. . View in PubMed
• Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta Am J Hum Genet. 2010 Apr 09; 86(4):551-9. . View in PubMed
• Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome Am J Hum Genet. 2009 Apr; 84(4):542-9. . View in PubMed
• Mesenchyme-dependent BMP signaling directs the timing of mandibular osteogenesis Development. 2008 Apr; 135(7):1223-34. . View in PubMed
• Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis Hum Mol Genet. 2006 Apr 15; 15(8):1319-28. . View in PubMed
• A phylogenetically conserved cis-regulatory module in the Msx2 promoter is sufficient for BMP-dependent transcription in murine and Drosophila embryos Development. 2004 Oct; 131(20):5153-65. . View in PubMed
• Msx2 and Twist cooperatively control the development of the neural crest-derived skeletogenic mesenchyme of the murine skull vault Development. 2003 Dec; 130(24):6131-42. . View in PubMed
• Msx2 is an immediate downstream effector of Pax3 in the development of the murine cardiac neural crest Development. 2002 Jan; 129(2):527-38. . View in PubMed

• Chai, Yang
• McMahon, Andrew
• Chuong, Cheng-Ming
• Warburton, David
• Lieberman, Jay