GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Authors: Andrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nurit Assia Batzir, Anat Bachar-Zipori, Lina Basel Salmon, Nathalie Boddaert, Sylvain Briault, Ange-Line Bruel, Christine Costet-Fighiera, Luisa Coutinho Santos, Cyril Gitiaux, Karolina Kaminska, Paul Kuentz, Naama Orenstein, Nicole Philip-Sarles, Morgane Plutino, Mathieu Quinodoz, Cristina Santos, Sabine Sigaudy, Mariana Soeiro e Sá, Efrat Sofrin, Ana Berta Sousa, Rui Sousa-Luis, Christel Thauvin-Robinet, Erwin L. van Dijk, Khaoula Zaafrane-Khachnaoui, Dinah Zur, Josseline Kaplan, Carlo Rivolta, Jean-Michel Rozet, Isabelle Perrault

Source: Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/ea2180d6616342c0a12f6aeb64c93bba

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits

Authors: Bo Yuan, Katharina V. Schulze, Nurit Assia Batzir, Jefferson Sinson, Hongzheng Dai, Wenmiao Zhu, Francia Bocanegra, Chin-To Fong, Jimmy Holder, Joanne Nguyen, Christian P. Schaaf, Yaping Yang, Weimin Bi, Christine Eng, Chad Shaw, James R. Lupski, Pengfei Liu

Source: Genome Medicine, Vol 14, Iss 1, Pp 1-24 (2022)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/50af113501604ee09eb61b9cf30d4c6b