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MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
Hum Mol Genet. 2019 Jul 15;28(14):2319-2329. doi: 10.1093/hmg/ddz066.
Hum Mol Genet. 2019.
PMID: 30985895
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.
Hamanaka K, Sugawara Y, Shimoji T, Nordtveit TI, Kato M, Nakashima M, Saitsu H, Suzuki T, Yamakawa K, Aukrust I, Houge G, Mitsuhashi S, Takata A, Iwama K, Alkanaq A, Fujita A, Imagawa E, Mizuguchi T, Miyake N, Miyatake S, Matsumoto N.
Hamanaka K, et al.
Eur J Hum Genet. 2019 Mar;27(3):378-383. doi: 10.1038/s41431-018-0289-x. Epub 2018 Nov 28.
Eur J Hum Genet. 2019.
PMID: 30487643
Free PMC article.
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RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy.
Hamanaka K, Miyatake S, Koshimizu E, Tsurusaki Y, Mitsuhashi S, Iwama K, Alkanaq AN, Fujita A, Imagawa E, Uchiyama Y, Tawara N, Ando Y, Misumi Y, Okubo M, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Iida A, Nishino I, Matsumoto N.
Hamanaka K, et al. Among authors: alkanaq an.
Genet Med. 2019 Jul;21(7):1629-1638. doi: 10.1038/s41436-018-0360-6. Epub 2018 Nov 23.
Genet Med. 2019.
PMID: 30467404
Free article.
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Comparison of mitochondrial DNA variants detection using short- and long-read sequencing.
Alkanaq AN, Hamanaka K, Sekiguchi F, Taguri M, Takata A, Miyake N, Miyatake S, Mizuguchi T, Matsumoto N.
Alkanaq AN, et al.
J Hum Genet. 2019 Nov;64(11):1107-1116. doi: 10.1038/s10038-019-0654-9. Epub 2019 Aug 13.
J Hum Genet. 2019.
PMID: 31409854
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Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.
Nishioka M, Kazuno AA, Nakamura T, Sakai N, Hayama T, Fujii K, Matsuo K, Komori A, Ishiwata M, Watanabe Y, Oka T, Matoba N, Kataoka M, Alkanaq AN, Hamanaka K, Tsuboi T, Sengoku T, Ogata K, Iwata N, Ikeda M, Matsumoto N, Kato T, Takata A.
Nishioka M, et al. Among authors: alkanaq an.
Nat Commun. 2021 Jun 18;12(1):3750. doi: 10.1038/s41467-021-23453-w.
Nat Commun. 2021.
PMID: 34145229
Free PMC article.
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