ADNP in reverse gear
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-023-01360-6.pdf
Reference7 articles.
1. Vissers LELM, van Nimwegen KJM, Schieving JH, Kamsteeg E-J, Kleefstra T, Yntema HG, et al. A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Genet Med. 2017;19:1055–63.
2. van der Sanden BPGH, Schobers G, Corominas Galbany J, Koolen DA, Sinnema M, van Reeuwijk J, et al. The performance of genome sequencing as a first-tier test for neurodevelopmental disorders. Eur J Hum Genet. 2023;31:81–8.
3. Georget M, Lejeune E, Buratti J, Servant E, le Guern E, Heron D, et al. Loss of function of ADNP by an intragenic inversion. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-023-01323-x
4. Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, et al. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet. 2014;46:380–4.
5. D’Incal CP, Van Rossem KE, De Man K, Konings A, Van Dijck A, Rizzuti L, et al. Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism. Clin Epigenetics. 2023;15:45.
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1. Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome;European Journal of Human Genetics;2024-02-29
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