Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome by Ruiz-Perez, Victor L., Stuart Tompson, W.J., Helen Blair, J., Espinoza-Valdez, Cecilia, Lapunzina, Pablo, Silva, Elias O., Hamel, Ben, Gibbs, John L., Young, Ian D., Wright, Michael J., Goodship, Judith A.

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Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma by Hamel, Andrew R., Yan, Wenjun, Rouhana, John M., Monovarfeshani, Aboozar, Jiang, Xinyi, Mehta, Puja A., Advani, Jayshree, Luo, Yuyang, Liang, Qingnan, Rajasundaram, Skanda, Shrivastava, Arushi, Duchinski, Katherine, Mantena, Sreekar, Wang, Jiali, van Zyl, Tavé, Pasquale, Louis R., Swaroop, Anand, Gharahkhani, Puya, Khawaja, Anthony P., MacGregor, Stuart, Chen, Rui, Vitart, Veronique, Sanes, Joshua R., Wiggs, Janey L., Segrè, Ayellet V.

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Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium by Wong, Yee-Ling, Hysi, Pirro, Cheung, Gemmy, Tedja, Milly, Hoang, Quan V, Tompson, Stuart W J, Whisenhunt, Kristina N, Verhoeven, Virginie, Zhao, Wanting, Hess, Moritz, Wong, Chee-Wai, Kifley, Annette, Hosoda, Yoshikatsu, Haarman, Annechien E G, Hopf, Susanne, Laspas, Panagiotis, Sensaki, Sonoko, Sim, Xueling, Miyake, Masahiro, Tsujikawa, Akitaka, Lamoureux, Ecosse, Ohno-Matsui, Kyoko, Nickels, Stefan, Mitchell, Paul, Wong, Tien-Yin, Wang, Jie Jin, Hammond, Christopher J, Barathi, Veluchamy A, Cheng, Ching-Yu, Yamashiro, Kenji, Young, Terri L, Klaver, Caroline C W, Saw, Seang-Mei

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Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients by TOMPSON, Stuart W. J, RUIZ-PEREZ, Victor L, BLAIR, Helen J, BARTON, Stephanie, NAVARRO, Victoria, ROBSON, Joanne L, WRIGHT, Michael J, GOODSHIP, Judith A

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