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Di Lazzaro Filho, Ricardo; Yamamoto, Guilherme Lopes; Silva, Tiago J; Rocha, Leticia A; Linnenkamp, Bianca D W; Castro, Matheus Augusto Araújo; Bartholdi, Deborah; Schaller, André; Leeb, Tosso; Kelmann, Samantha; Utagawa, Claudia Y; Steiner, Carlos E; Steinmetz, Leandra; Honjo, Rachel Sayuri; Kim, Chong Ae; Wang, Lisa; Abourjaili-Bilodeau, Raphaël; Campeau, Philippe; Warman, Matthew; Passos-Bueno, Maria Rita; ... (2023). Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome. Journal of medical genetics, 60(11), pp. 1127-1132. BMJ Publishing Group 10.1136/jmg-2022-109119
Moosa, Shahida; Yamamoto, Guilherme L; Garbes, Lutz; Keupp, Katharina; Beleza-Meireles, Ana; Moreno, Carolina Araujo; Valadares, Eugenia Ribeiro; de Sousa, Sérgio B; Maia, Sofia; Saraiva, Jorge; Honjo, Rachel S; Kim, Chong Ae; Cabral de Menezes, Hamilton; Lausch, Ekkehart; Lorini, Pablo Villavicencio; Lamounier, Arsonval; Carniero, Tulio Canella Bezerra; Giunta, Cecilia; Rohrbach, Marianne; Janner, Marco; ... (2019). Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. American journal of human genetics, 105(4), pp. 836-843. Cell Press 10.1016/j.ajhg.2019.08.008
