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Year | Number of Results |
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2021 | 1 |
2022 | 1 |
2023 | 2 |
2024 | 0 |
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Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.
J Hum Genet. 2023 Oct;68(10):689-697. doi: 10.1038/s10038-023-01170-0. Epub 2023 Jun 12.
J Hum Genet. 2023.
PMID: 37308565
Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder.
Ohori S, Tsuburaya RS, Kinoshita M, Miyagi E, Mizuguchi T, Mitsuhashi S, Frith MC, Matsumoto N.
Ohori S, et al.
J Hum Genet. 2021 Jul;66(7):697-705. doi: 10.1038/s10038-020-00893-8. Epub 2021 Jan 29.
J Hum Genet. 2021.
PMID: 33510365
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A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8.
Sakamoto M, Shiiki T, Matsui S, Okamoto N, Koshimizu E, Tsuchida N, Uchiyama Y, Hamanaka K, Fujita A, Miyatake S, Misawa K, Mizuguchi T, Matsumoto N.
Sakamoto M, et al.
J Hum Genet. 2023 Apr;68(4):247-253. doi: 10.1038/s10038-022-01098-x. Epub 2022 Dec 13.
J Hum Genet. 2023.
PMID: 36509868
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