Publications

2020s2010s2000s
  1. Brugmann SA, Clouthier DE, Fantauzzo KA, Harris MP, Jeong J, Saint-Jeannet JP, Stottmann RW, Merrill AE. The society for craniofacial genetics and developmental biology 46th annual meeting. Am J Med Genet A. 2024 Apr 2;:e63615. doi: 10.1002/ajmg.a.63615. [Epub ahead of print] PubMed PMID: 38563316.
  2. *Nickle A, *Ko S, Merrill AE. Fibroblast growth factor 2. Differentiation. 2023 Oct 12;.doi: 10.1016/j.diff.2023.10.001. [Epub ahead of print] PubMed PMID: 37858405; PubMed Central PMCID: PMC11009566.
  3. Stottmann RW, Harris MP, Saint-Jeannet JP, Merrill AE, Clouthier DE. The Society for Craniofacial Genetics and Developmental Biology 45th Annual Meeting. Am J Med Genet A. 2023 Jul;191(7):1994-2002. doi: 10.1002/ajmg.a.63206. Epub 2023 Apr 11. PubMed PMID: 37040531.
  4. Chen HJ, Barske L, Talbot JC, Dinwoodie OM, *Roberts RR, Farmer DT, Jimenez C, Merrill AE, Tucker AS, Crump JG. Nuclear receptor Nr5a2 promotes diverse connective tissue fates in the jaw. Dev Cell. 2023 Mar 27;58(6):461-473.e7. doi: 10.1016/j.devcel.2023.02.011. Epub 2023 Mar 10. PubMed PMID: 36905926; PubMed Central PMCID: PMC10050118.
  5. Devine J, Vidal-García M, Liu W, Neves A, Lo Vercio LD, Green RM, Richbourg HA, Marchini M, Unger CM, *Nickle AC, Radford B, Young NM, Gonzalez PN, Schuler RE, Bugacov A, Rolian C, Percival CJ, Williams T, Niswander L, Calof AL, Lander AD, Visel A, Jirik FR, Cheverud JM, Klein OD, Birnbaum RY, Merrill AE, Ackermann RR, Graf D, Hemberger M, Dean W, Forkert ND, Murray SA, Westerberg H, Marcucio RS, Hallgrímsson B. MusMorph, a database of standardized mouse morphology data for morphometric meta-analyses. Sci Data. 2022 May 25;9(1):230. doi: 10.1038/s41597-022-01338-x. PubMed PMID: 35614082; PubMed Central PMCID: PMC9133120.
  6. Brugmann SA, Merrill AE, Saint-Jeannet JP, Stottmann RW, Clouthier DE. The Society for Craniofacial Genetics and Developmental Biology 44th Annual Meeting. Am J Med Genet A. 2022 Jul;188(7):2258-2266. doi: 10.1002/ajmg.a.62731. Epub 2022 Mar 29. PubMed PMID: 35352468.
  7. Bobzin L, Roberts RR, Chen HJ, Crump JG, Merrill AE. (2021) Development and maintenance of tendons and ligaments. Development. Apr 15;148(8):dev186916. doi: 10.1242/dev.186916.
  8. Farmer DT, Mlcochova H, Zhou Y, Koelling N, Wang G, Ashley N, Bugacov H, Chen HJ, Parvez R, Tseng KC, Merrill AE, Maxson RE Jr, Wilkie AOM, Crump JG, Twigg SRF. (2021) The developing mouse coronal suture at single-cell resolution. Nature Communications. Aug 10;12(1):4797. doi: 10.1038/s41467-021-24917-9.
    1. *Salva JE,*Roberts RR,*Stucky TS, Merrill AE. (2019). Nuclear FGFR2 regulates musculoskeletal integration within the developing limb. Development Dynamics Jan 8. doi: 10.1002/dvdy.9.
    2. Tuzon CT, Rigueur R, Merrill AE. (2019). Nuclear Fibroblast Growth Factor Receptor Signaling in Skeletal Development and Disease. Current Osteoporosis Reports. Apr 13. doi: 10.1007/s11914-019-00512-2.
    3. Roberts RR, Bobzin L, Teng CS, Pal D, Tuzon CT, Schweitzer R, Merrill AE. (2019) FGF signaling patterns cell fate at the interface between tendon and bone. Development.  doi: 10.1242/dev.170241.
    4. Watt KEN, *Neben CL, Hall S, Merrill AE, Trainor PA. (2018). tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis – Cincinnati type. Human Molecular Genetics,May 10. doi: 10.1093/hmg/ddy172.
    5. *Rigueur D,*Roberts RR,*Bobzin L, Merrill AE. (2018).  A requirement for Fgfr2 in middle ear development. Genesis. Sep 25:e23252. doi: 10.1002/dvg.23252.
    6. *Neben CL, *Tuzon CT, *Mao X, Lay FD, Merrill AE. (2017). FGFR2 mutations in Bent Bone Dysplasia Syndrome Activate Nucleolar Stress and Perturb Cell Fate Determination. Human Molecular Genetics, Sep 1;26(17):3253-3270. doi: 10.1093/hmg/ddx209.
    7. Zieba J, Forlenza K, Khatra JS, Sarukhanov A, Duran I, Rigueur D, Lyons KM, Merrill AE, Krakow D. (2016). TGFβ and BMP dependent cell fate changes due to loss of Filamin B produces disc degeneration and progressive vertebral fusions. PLOS GENETICS 12, e1005936.
    8. Krakow D, Cohn DH, Wilcox WR, Noh G, Raffel L, Sarukhanov A, Ivanova M, Danielpour M, Elliot A, Bernstein J, Rimoin DL, Merrill AE, and Lachman RS. (2016) Clinical and Radiographic Delineation of Bent Bone Dysplasia-FGFR2 type. American Journal of Medical Genetics, 170, 2652-2661.
    9. Noack Watt KE, Achilleos A, *Neben CL, Merrill AE, Trainor PA. (2016). The roles of RNA Polymerase I subunits Polr1c and Polr1d in craniofacial development and Treacher Collins syndrome. PLOS GENETICS, 12, e1006187.
    10. *Neben CL, *Roberts RR, Dipple KM, Merrill AE, and Klein OD. (2016). Modeling Craniofacial Anomalies to Advance Novel Therapeutics. Human Molecular Genetics, 25, R86-R93. Special Issue.
    11. *Neben CL, Lay FD, *Mao X, *Tuzon CT, Merrill AE. (2016). Ribosome biogenesis is dynamically regulated during osteoblast differentiation. Gene, 612, 29-35. Special Issue: Transcription by RNA Polymerases I, III, IV and V.
    12. *Salva, JE and Merrill AE. (2016). Signaling networks in joint development. Developmental Dynamics, 246, 262-274. Special Issue: Signaling Pathways in Development, Injury & Repair. Highlighted in the February
    13. *Cynthia L. Neben and Amy E. Merrill. Current Topics in Developmental Biology, Volume 115, Craniofacial Development, Chapter title: Signaling Pathways in Craniofacial Development: Insights from Rare Skeletal Disorders, pg. 493-542 Publisher: Elsevier. 11/2015; ISBN: 9780124081413.

2017 issue of “Anatomy Now”, the official monthly publication for the American Association of Anatomists.  

  1. *Neben CL, *Idoni B, *Salva JE, Tuzon CT, Rice JC, Krakow D, Merrill AE. (2014). Bent Bone Dysplasia Syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription. Human Molecular Genetics, 23, 5659-5671.
  2. Trainor PA and Merrill AE. (2013). Ribosome Biogenesis in Skeletal Development and the Pathogenesis of Skeletal Disorders. Biochimica Biophysica Acta – Molecular Basis of Disease, 1842, 769-778. Special Issue: Role of the nucleolus in human disease.
  3. Merrill AE, Sarukhanov A, Krejci P, *Idoni B, Camacho N, Estrada KD, Lyons KM, Deixler H, Robinson H, Chitayat D, Curry CJ, Lachman RS, Wilcox WR, Krakow D. (2012). A Distinct Skeletal Disorder, Bent Bone Dysplasia-FGFR2 type, has Deficient canonical FGFR2 Signaling. American Journal of Human Genetics, 90, 550-557. Recommended by F1000Prime as a must read.
  4. Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Byers PH, Eyre DR, Baldridge D, Lee BH, Merrill AE, Cohn DH, Akarsu N, Krakow D. (2010). Mutations in the gene encoding the RER chaperone FKBP65 produce autosomal recessive osteogenesis imperfecta. American Journal of Human Genetics, 86, 551-559.
  1. Merrill AE, Merriman B, Farrington-Rock C, Camacho N, Sebald ET, Funari VA, Shibler MJ, Firestein MH, Cohn ZA, Priore MA, Thompson AK, Rimioin DL, Nelson SF, Cohn DH, Krakow D. (2009). Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short rib-polydactyly syndrome. American Journal of Human Genetics, 84, 542-549. Press release: Gene Linked To Deadly Disorder In Newborns Identified. University of California, Los Angeles (2009, April 10). Retrieved from ScienceDaily: http://www.sciencedaily.com/releases/2009/04/090401134413.htm.
  2. Merrill AE, Eames BF, Weston SJ, Heath T, Schneider RA. (2008). Mesenchyme-dependent Bmp signaling directs the timing of mandibular osteogenesis. Development 135, 1223-1234.  Recommended by F1000Prime as a must read.
  3. Merrill AE, Bochukova EG, Brugger SM, Ishii M, Pilz DT, Wall SA, Lyons KM, Wilkie AO, Maxson RE (2006). Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. Human Molecular Genetic 15,1319-1328
  4. Brugger SM, Merrill AE, Torres-Vazquez J, Wu N, Ting MC, Cho JY, Dobias SL, Yi SE, Lyons K, Bell JR, Arora K, Warrior R, Maxson R. (2004). A phylogenetically conserved cis-regulatory module in the Msx2 promoter is sufficient for BMP-dependent transcription in murine and Drosophila embryos. Development 131, 5153-5165.
  5. Ishii M, Merrill AE, Chan YS, Gitelman I, Rice DP, Sucov HM, Maxson RE Jr. (2003). Msx2 and Twist cooperatively control the development of the neural crest-derived skeletogenic mesenchyme of the murine skull vault. Development 130, 6131-6142.
  6. Robert E. Maxson, Mamoru Ishii, Amy Merrill. Advances in Developmental Biology and Biochemistry, Volume 13, Murine Homeobox Gene Control of Embryonic Patterning and Organogenesis, Chapter title: Msx genes in organogenesis and human disease, pg 43-68. Publisher: Elsevier. 01/2003; ISBN: 978-0-444-51498-1.
  7. Kwang SJ, Brugger SM, Lazik A, Merrill AE, Wu LY, Liu YH, Ishii M, Sangiorgi FO, Rauchman M, Sucov HM, Maas RL, Maxson RE Jr. (2002). Msx2 is an immediate downstream effector of Pax3 in the development of the murine cardiac neural crest. Development 129, 527-538.
*Merrill lab trainees