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Non-RB1 germline cancer predisposing variants found in retinoblastoma patients.
Rodriguez Barreto AM, Walsh MF, Robbins MA, Mauguen A, Fiala EM, Olcese C, Haggag-Lindgren D, Mandelker D, Francis JH, Berger MF, Friedman DN, Offit K, Abramson DH. Rodriguez Barreto AM, et al. Genet Med Open. 2024 Mar 6;2:101836. doi: 10.1016/j.gimo.2024.101836. eCollection 2024. Genet Med Open. 2024. PMID: 39669595 Free PMC article.
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO; Undiagnosed Diseases Network; Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, Seaver LH, Platzer K, Bartolomaeus T, Wünsch C, Fischer S, Rodriguez Barreto AM, Granadillo JL, Schreiner E, Brunet T, Schatz UA, Thiffault I, Mullegama SV, Michaud JL, Hamdan FF, Rossignol E, Campeau PM. Borroto MC, et al. Among authors: rodriguez barreto am. Pediatr Neurol. 2024 Nov;160:45-53. doi: 10.1016/j.pediatrneurol.2024.07.010. Epub 2024 Jul 20. Pediatr Neurol. 2024. PMID: 39181022 Free article.