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Frontiers in Genetics|March 14, 2019
Next Generation Sequencing and Animal Models Reveal <i>SLC9A3R1</i> as a New Gene Involved in Human Age-Related Hearing LossGiorgia Girotto, Anna Morgan, Navaneethakrishnan Krishnamoorthy, et al.Genome Medicine|April 14, 2025
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomaliesFrancesca Mattioli, Rún Friðriksdóttir, Anne Hebert, et al.Human Molecular Genetics|June 1, 2021
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing lossSissy Bassani, Edward van Beelen, Mireille Rossel, et al.American Journal of Human Genetics|May 14, 2024
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effectFang Yang, Anais Begemann, Nadine Reichhart, et al.Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profilesSissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, et al.Genome Medicine|May 29, 2024
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profilesSissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, et al.Pageof 1