Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

Initial sequencing and analysis of the human genome

International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216

The primary cilium: a signalling centre during vertebrate development

Goetz, S. C., & Anderson, K. V. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2774 · Cited by 1,824

The Ciliopathies: An Emerging Class of Human Genetic Disorders

Badano, J. L., Mitsuma, N., Beales, P. L., & Katsanis, N. (2006) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.7.080505.115610 · Cited by 1,144

Ciliopathies: an expanding disease spectrum

Waters, A. M., & Beales, P. L. (2011) · Pediatric Nephrology · doi:10.1007/s00467-010-1731-7 · Cited by 676

Genetic basis for congenital heart disease: Revisited: A scientific statement from the American Heart Association

Pierpont, M. E., Brueckner, M., Chung, W. K., Garg, V., Lacro, R. V., McGuire, A. L., Mital, S., Priest, J. R., Pu, W. T., Roberts, A., et al. (2018) · Circulation · doi:10.1161/cir.0000000000000606 · Cited by 654

Genetics of population isolates

Arcos‐Burgos, M., & Muenke, M. (2002) · Clinical Genetics · doi:10.1034/j.1399-0004.2002.610401.x · Cited by 271

Ectodermal dysplasias: a new clinical-genetic classification

Priolo, M., & Laganà, C. (2001) · Journal of Medical Genetics · doi:10.1136/jmg.38.9.579 · Cited by 197

Photoreceptor Cilia and Retinal Ciliopathies

Bujakowska, K. M., Liu, Q., & Pierce, E. A. (2017) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a028274 · Cited by 194

Towards a new classification of ectodermal dysplasias: Classification of EDs

Lamartine, J. (2003) · Clinical and Experimental Dermatology · doi:10.1046/j.1365-2230.2003.01319.x · Cited by 191

Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome

Ruiz-Perez, V. L., Stuart Tompson, W. J., Helen Blair, J., Espinoza-Valdez, C., Lapunzina, P., Silva, E. O., Hamel, B., Gibbs, J. L., Young, I. D., Wright, M. J., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/368063 · Cited by 187

Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia

Ruiz-Perez, V. L., Blair, H. J., Rodriguez-Andres, M. E., Blanco, M. J., Wilson, A., Liu, Y.-N., Miles, C., Peters, H., & Goodship, J. A. (2007) · Development · doi:10.1242/dev.007542 · Cited by 175

A Smoothened-Evc2 Complex Transduces the Hedgehog Signal at Primary Cilia

Dorn, K. V., Hughes, C. E., & Rohatgi, R. (2012) · Developmental Cell · doi:10.1016/j.devcel.2012.07.004 · Cited by 174

Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways

Sigg, M. A., Menchen, T., Lee, C., Johnson, J., Jungnickel, M. K., Choksi, S. P., Garcia, G., Busengdal, H., Dougherty, G. W., Pennekamp, P., et al. (2017) · Developmental Cell · doi:10.1016/j.devcel.2017.11.014 · Cited by 130

Ectodermal dysplasias: not only ‘skin’ deep

Priolo, M., Silengo, M., Lerone, M., & Ravazzolo, R. (2000) · Clinical Genetics · doi:10.1034/j.1399-0004.2000.580601.x · Cited by 106

A population-based study of autosomal-recessive disease-causing mutations in a founder population.

Chong, J. X., Ouwenga, R., Anderson, R. L., Waggoner, D. J., & Ober, C. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.08.007 · Cited by 55

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

Caparrós-Martín, J. A., De Luca, A., Cartault, F., Aglan, M., Temtamy, S., Otaify, G. A., Mehrez, M., Valencia, M., Vázquez, L., Alessandri, J.-L., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv152 · Cited by 57

Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia

Martin, L., Kaci, N., Estibals, V., Goudin, N., Garfa-Traore, M., Benoist-Lasselin, C., Dambroise, E., & Legeai-Mallet, L. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddx374 · Cited by 51

The Role of Ellis‐Van Creveld 2(EVC2) in Mice During Cranial Bone Development

Kwon, E. K., Louie, K., Kulkarni, A., Yatabe, M., Ruellas, A. C. D. O., Snider, T. N., Mochida, Y., Cevidanes, L. H. S., Mishina, Y., & Zhang, H. (2018) · The Anatomical Record · doi:10.1002/ar.23692 · Cited by 17