Article
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies.
HGG advances - 10 Jul 2025
Lubin Emily E, Gonzalez Elizabeth M, Sangree Annabel K, Durham Emily L, Klinkhammer Hannah, Li Jing-Mei, Smith Sarina M, Layo-Carris Dana E, Clark Kelly J, Melendez-Perez Ashley J, Wang Xiao Min, Angireddy Rajesh, Weiss Erin E, Barakat Tahsin Stefan, Mercier Sandra, Cogné Benjamin, Koene Saskia, Hilhorst-Hofstee Yvonne, Rydzanicz Malgorzata, Ploski Rafal, de Los Ángeles Gómez Cano María, Palomares-Bralo María, Arévalo Tania Barragán, Tan Tiong Yang, Gallacher Lyndon, MacFarland Suzanne P, Ahrens-Nicklas Rebecca C, Nomakuchi Tomoki T, Bhoj Elizabeth J K
Abstract excerpt
Mendelian histonopathies are rare neurodevelopmental disorders (NDDs) caused by germline variants in histone-encoding genes. Here, we perform a more expansive pan-histonopathy interrogation than previously possible. We analyze data from 192 individuals affected by histonopathies. This analysis includes representation of the 185 published individuals with HIST1H1E syndrome, Bryant-Li-Bhoj syndrome, and...
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