Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield-Reference-Cited by-同舟云学术

Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield

Published:2024-08-09 Issue: Volume: Page:
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Furukawa Shogo^ORCID,Kato Mitsuhiro,Ishiyama Akihiko,Kumada Tomohiro,Yoshida Takeshi^ORCID,Takeshita Eri,Chong Pin Fee,Yamanouchi Hideo,Kotake Yuko,Kyoda Takayoshi,Nomura Toshihiro,Miyata Yohane,Nakashima Mitsuko^ORCID,Saitsu Hirotomo^ORCID

Funder

MEXT | Japan Society for the Promotion of Science

Japan Agency for Medical Research and Development

Takeda Science Foundation, HUSM Grant-in-Aid from Hamamatsu University School of Medicine

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s10038-024-01283-0.pdf

Reference34 articles.

1. Oegema R, Barakat TS, Wilke M, Stouffs K, Amrom D, Aronica E, et al. International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nat Rev Neurol. 2020;16:618–35.

2. Guerrini R, Filippi T. Neuronal migration disorders, genetics, and epileptogenesis. J Child Neurol. 2005;20:287–99.

3. Kato M, Dobyns WB. Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet. 2003;12:R89–96.

4. Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB. A developmental and genetic classification for malformations of cortical development: update 2012. Brain. 2012;135:1348–69.

5. Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, et al. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med. 2018;20:1354–64.