Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.

doi:10.1016/j.ygeno.2022.110468

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Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.

Genomics - 1 Sept 2022

Seyama Rie, Uchiyama Yuri, Ceroni José Ricard Magliocco, Kim Veronica Eun Hue, Furquim Isabel, Honjo Rachel Sayuri, Castro Matheus Augusto Araujo, Pires Lucas Vieira Lacerda, Aoi Hiromi, Iwama Kazuhiro, Hamanaka Kohei, Fujita Atsushi, Tsuchida Naomi, Koshimizu Eriko, Misawa Kazuharu, Miyatake Satoko, Mizuguchi Takeshi, Makino Shintaro, Itakura Atsuo, Bertola Débora R, Kim Chong Ae, Matsumoto Naomichi

Abstract excerpt

Recent studies suggest that transcript isoforms significantly overlap (approximately 60%) between brain tissue and Epstein-Barr virus-transformed lymphoblastoid cell lines (LCLs). Interestingly, 14 cohesion-related genes with variants that cause Cornelia de Lange Syndrome (CdLS) are highly expressed in the brain and LCLs. In this context, we first performed RNA sequencing of LCLs from 22 solved (with pathogenic...

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PMID: 36041635
DOI: 10.1016/j.ygeno.2022.110468

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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