Amy E. Merrill
Amy E. Merrill
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Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta
Y Alanay, H Avaygan, N Camacho, GE Utine, K Boduroglu, D Aktas, ...
The American Journal of Human Genetics 86 (4), 551-559, 2010
Msx2 and Twist cooperatively control the development of the neural crest-derived skeletogenic mesenchyme of the murine skull vault
M Ishii, AE Merrill, YS Chan, I Gitelman, DPC Rice, HM Sucov, ...
Development 130 (24), 6131-6142, 2003
Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis
AE Merrill, EG Bochukova, SM Brugger, M Ishii, DT Pilz, SA Wall, ...
Human molecular genetics 15 (8), 1319-1328, 2006
A phylogenetically conserved cis-regulatory module in the Msx2 promoter is sufficient for BMP-dependent transcription in murine and Drosophila embryos
SM Brugger, AE Merrill, J Torres-Vazquez, N Wu, MC Ting, JYM Cho, ...
Development 131 (20), 5153-5165, 2004
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome
AE Merrill, B Merriman, C Farrington-Rock, N Camacho, ET Sebald, ...
The American Journal of Human Genetics 84 (4), 542-549, 2009
Msx2 is an immediate downstream effector of Pax3 in the development of the murine cardiac neural crest
SJ Kwang, SM Brugger, A Lazik, AE Merrill, LY Wu, YH Liu, M Ishii, ...
Development 129 (2), 527-538, 2002
Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders
PA Trainor, AE Merrill
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1842 (6), 769-778, 2014
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling
AE Merrill, A Sarukhanov, P Krejci, B Idoni, N Camacho, KD Estrada, ...
The American Journal of Human Genetics 90 (3), 550-557, 2012
Mesenchyme-dependent BMP signaling directs the timing of mandibular osteogenesis
AE Merrill, BF Eames, SJ Weston, T Heath, RA Schneider
Development 135 (7), 1223-1234, 2008
The roles of RNA polymerase I and III subunits Polr1c and Polr1d in craniofacial development and in zebrafish models of Treacher Collins syndrome
KE Noack Watt, A Achilleos, CL Neben, AE Merrill, PA Trainor
PLoS genetics 12 (7), e1006187, 2016
Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription
CL Neben, B Idoni, JE Salva, CT Tuzon, JC Rice, D Krakow, AE Merrill
Human molecular genetics 23 (21), 5659-5671, 2014
TGFβ and BMP dependent cell fate changes due to loss of Filamin B produces disc degeneration and progressive vertebral fusions
J Zieba, KN Forlenza, JS Khatra, A Sarukhanov, I Duran, D Rigueur, ...
PLoS genetics 12 (3), e1005936, 2016
Signaling networks in joint development
JE Salva, AE Merrill
Developmental Dynamics 246 (4), 262-274, 2017
Signaling pathways in craniofacial development: insights from rare skeletal disorders
CL Neben, AE Merrill
Current topics in developmental biology 115, 493-542, 2015
FGFR2 mutations in bent bone dysplasia syndrome activate nucleolar stress and perturb cell fate determination
CL Neben, CT Tuzon, X Mao, FD Lay, AE Merrill
Human molecular genetics 26 (17), 3253-3270, 2017
Ribosome biogenesis is dynamically regulated during osteoblast differentiation
CL Neben, FD Lay, X Mao, CT Tuzon, AE Merrill
Gene 612, 29-35, 2017
Clinical and radiographic delineation of Bent Bone Dysplasia‐FGFR2 type or Bent Bone Dysplasia with distinctive clavicles and angel‐shaped phalanges
D Krakow, DH Cohn, WR Wilcox, GJ Noh, LJ Raffel, A Sarukhanov, ...
American Journal of Medical Genetics Part A 170 (10), 2652-2661, 2016
Nuclear fibroblast growth factor receptor signaling in skeletal development and disease
CT Tuzon, D Rigueur, AE Merrill
Current osteoporosis reports 17 (3), 138-146, 2019
tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis–Cincinnati type
KEN Watt, CL Neben, S Hall, AE Merrill, PA Trainor
Human molecular genetics 27 (15), 2628-2643, 2018
Modeling craniofacial and skeletal congenital birth defects to advance therapies
CL Neben, RR Roberts, KM Dipple, AE Merrill, OD Klein
Human Molecular Genetics 25 (R2), R86-R93, 2016
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