Annabel K. Sangree

Apr 26, 2024 | nature.com | Emily E. Lubin |Annabel K. Sangree |Rajesh Angireddy |Roberto Mendoza-Londono |Lucie Dupuis |Irene Valenzuela | +23 more

AbstractBryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1–4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5].

Feb 4, 2024 | biorxiv.org | Kelly Clark |Emily E. Lubin |Elizabeth Gonzalez |Annabel K. Sangree

AbstractWhole exome and genome sequencing, coupled with refined bioinformatic pipelines, have enabled improved diagnostic yields for individuals with Mendelian conditions and have led to the rapid identification of novel syndromes. For many Mendelian neurodevelopmental disorders (NDDs), there is a lack of pre-existing model systems for mechanistic work. Thus, it is critical for translational researchers to have an accessible phenotype- and genotype-informed approach for model system selection.