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Page 1
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. Among authors: alkanaq a. 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.
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita A, Imagawa E, Alkanaq AN, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H, Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto N. Hamanaka K, et al. Among authors: alkanaq an. Hum Mol Genet. 2019 Jul 15;28(14):2319-2329. doi: 10.1093/hmg/ddz066. Hum Mol Genet. 2019. PMID: 30985895
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.
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.
Publisher Correction: Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A, Schroeder P, Mandla R, Li J, Morris L, Vora M, Alkanaq A, Nagy D, Szczerbinski L, Madsen JGS, Bonàs-Guarch S, Mollandin F, Cole JB, Porneala B, Westerman K, Li JH, Pollin TI, Florez JC, Gloyn AL, Carey DJ, Cebola I, Mirshahi UL, Manning AK, Leong A, Udler M, Mercader JM. Huerta-Chagoya A, et al. Among authors: alkanaq a. Nat Genet. 2024 Nov;56(11):2576. doi: 10.1038/s41588-024-01986-2. Nat Genet. 2024. PMID: 39438755 Free PMC article. No abstract available.
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A, Schroeder P, Mandla R, Li J, Morris L, Vora M, Alkanaq A, Nagy D, Szczerbinski L, Madsen JGS, Bonàs-Guarch S, Mollandin F, Cole JB, Porneala B, Westerman K, Li JH, Pollin TI, Florez JC, Gloyn AL, Carey DJ, Cebola I, Mirshahi UL, Manning AK, Leong A, Udler M, Mercader JM. Huerta-Chagoya A, et al. Among authors: alkanaq a. Nat Genet. 2024 Nov;56(11):2370-2379. doi: 10.1038/s41588-024-01947-9. Epub 2024 Oct 8. Nat Genet. 2024. PMID: 39379762 Free PMC article.
Biolink Model: A universal schema for knowledge graphs in clinical, biomedical, and translational science.
Unni DR, Moxon SAT, Bada M, Brush M, Bruskiewich R, Caufield JH, Clemons PA, Dancik V, Dumontier M, Fecho K, Glusman G, Hadlock JJ, Harris NL, Joshi A, Putman T, Qin G, Ramsey SA, Shefchek KA, Solbrig H, Soman K, Thessen AE, Haendel MA, Bizon C, Mungall CJ; Biomedical Data Translator Consortium. Unni DR, et al. Clin Transl Sci. 2022 Aug;15(8):1848-1855. doi: 10.1111/cts.13302. Epub 2022 Jun 6. Clin Transl Sci. 2022. PMID: 36125173 Free PMC article. Review.
13 results