Works matching IS 2054345X AND DT 2022

Results: 52

Acknowledgement to the Reviewers.

Published in:

2022

By:

Imoto, Issei

Publication type:

Correction Notice

Human leukocyte antigen super-locus: nexus of genomic supergenes, SNPs, indels, transcripts, and haplotypes.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00226-5

By:

Kulski, Jerzy K.;
Suzuki, Shingo;
Shiina, Takashi

Publication type:

Article

The NBDC-DDBJ imputation server facilitates the use of controlled access reference panel datasets in Japan.

Published in:

2022

By:

Hachiya, Tsuyoshi;
Ishii, Manabu;
Kawai, Yosuke;
Khor, Seik-Soon;
Kawashima, Minae;
Toyo-Oka, Licht;
Mitsuhashi, Nobutaka;
Fukuda, Asami;
Kodama, Yuichi;
Fujisawa, Takatomo;
Tokunaga, Katsushi;
Takagi, Toshihisa

Publication type:

Product Review

Building cloud computing environments for genome analysis in Japan.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00223-8

By:

Ogasawara, Osamu

Publication type:

Article

A novel FLNA variant in a fetus with skeletal dysplasia.

Published in:

Human Genome Variation, 2022, p. 1, doi. 10.1038/s41439-022-00224-7

By:

Oshina, Kyoko;
Kamei, Yoshimasa;
Hori, Asuka;
Hasegawa, Fuyuki;
Taniguchi, Kosuke;
Migita, Ohsuke;
Itakura, Atsuo;
Hata, Kenichiro

Publication type:

Article

TogoVar: A comprehensive Japanese genetic variation database.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00222-9

By:

Mitsuhashi, Nobutaka;
Toyo-oka, Licht;
Katayama, Toshiaki;
Kawashima, Minae;
Kawashima, Shuichi;
Miyazaki, Kazunori;
Takagi, Toshihisa

Publication type:

Article

Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00220-x

By:

Eto, Kaoru;
Machida, Osamu;
Yanagishita, Tomoe;
Shimojima Yamamoto, Keiko;
Chiba, Kentaro;
Aihara, Yasuo;
Hasegawa, Yuuki;
Nagata, Miho;
Ishihara, Yasuki;
Miyashita, Yohei;
Asano, Yoshihiro;
Nagata, Satoru;
Yamamoto, Toshiyuki

Publication type:

Article

A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00221-w

By:

Hatano, Maho;
Udagawa, Tomohiro;
Kanamori, Toru;
Sutani, Akito;
Mori, Takayasu;
Sohara, Eisei;
Uchida, Shinichi;
Morio, Tomohiro;
Nishioka, Masato

Publication type:

Article

Atypical Sotos syndrome caused by a novel splice site variant.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00219-4

By:

Minatogawa, Mari;
Tsuji, Taichi;
Inaba, Mie;
Kawakami, Noriaki;
Mizuno, Seiji;
Kosho, Tomoki

Publication type:

Article

Novel missense COL2A1 variant in a fetus with achondrogenesis type II.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00218-5

By:

Kobayashi, Yukari;
Ito, Yuki;
Taniguchi, Kosuke;
Harada, Kana;
Yamamura, Michihiro;
Sato, Taisuke;
Takahashi, Ken;
Kawame, Hiroshi;
Hata, Kenichiro;
Samura, Osamu;
Okamoto, Aikou

Publication type:

Article

Distal 2q duplication in a patient with intellectual disability.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00215-8

By:

Suzuki, Toshifumi;
Osaka, Hitoshi;
Miyake, Noriko;
Fujita, Atsushi;
Uchiyama, Yuri;
Seyama, Rie;
Koshimizu, Eriko;
Miyatake, Satoko;
Mizuguchi, Takeshi;
Takeda, Satoru;
Matsumoto, Naomichi

Publication type:

Article

National Center Biobank Network.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00217-6

By:

Omae, Yosuke;
Goto, Yu-ichi;
Tokunaga, Katsushi

Publication type:

Article

An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00216-7

By:

Vostrukhina, Olga A.;
Mirlina, Elena D.;
Khmelkova, Darya N.;
Butrovich, Galina M.;
Shakhmatova, Alexandra D.;
Kil, Yury V.;
Polyatskin, Yliya L.;
Artemyeva, Anna S.;
Gulyaev, Alexey V.;
Verbenko, Valery N.

Publication type:

Article

Cloud service checklist for academic communities and customization for genome medical research.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00214-9

By:

Kobayashi, Kumiko;
Yoshida, Hiroshi;
Tanjo, Tomoya;
Aida, Kento

Publication type:

Article

A Japanese patient with neonatal biotin-responsive basal ganglia disease.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00210-z

By:

Kobayashi, Mizuki;
Suzuki, Yuichi;
Nodera, Maki;
Matsunaga, Ayako;
Kohda, Masakazu;
Okazaki, Yasushi;
Murayama, Kei;
Yamagata, Takanori;
Osaka, Hitoshi

Publication type:

Article

Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00213-w

By:

Shiga, Naomi;
Yamaguchi-Kabata, Yumi;
Igeta, Saori;
Yasuda, Jun;
Tadaka, Shu;
Minato, Takamichi;
Watanabe, Zen;
Kanno, Junko;
Tamiya, Gen;
Fuse, Nobuo;
Kinoshita, Kengo;
Kure, Shigeo;
Kondo, Akiko;
Tachibana, Masahito;
Yamamoto, Masayuki;
Yaegashi, Nobuo;
Sugawara, Junichi

Publication type:

Article

The ATRX splicing variant c.21-1G>A is asymptomatic.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00212-x

By:

Kojima, Karin;
Wada, Takahito;
Shimbo, Hiroko;
Ikeda, Takahiro;
Jimbo, Eriko F.;
Saitsu, Hirotomo;
Matsumoto, Naomichi;
Yamagata, Takanori

Publication type:

Article

Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00211-y

By:

Hattori, Atsushi;
Okuyama, Torayuki;
So, Tetsumin;
Kosuga, Motomichi;
Ichimoto, Keiko;
Murayama, Kei;
Kagami, Masayo;
Fukami, Maki;
Fukuhara, Yasuyuki

Publication type:

Article

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00208-7

By:

Irum, Bushra;
Kabir, Firoz;
Shoshany, Nadav;
Khan, Shahid Y.;
Rauf, Bushra;
Naeem, Muhammad Asif;
Qaiser, Tanveer A.;
Riazuddin, Sheikh;
Hejtmancik, J. Fielding;
Riazuddin, S. Amer

Publication type:

Article

A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00209-6

By:

Kumagai, Naonori;
Matsumoto, Yuji;
Kondoh, Tomomi;
Ikezumi, Yohei

Publication type:

Article

A Japanese family with dystonia due to a pathogenic variant in SGCE.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00207-8

By:

Morikawa, Takuya;
Miura, Shiroh;
Fan, Luoming;
Watanabe, Emina;
Fujioka, Ryuta;
Motooka, Hiromichi;
Yasumoto, Shingo;
Uchiyama, Yusuke;
Shibata, Hiroki

Publication type:

Article

Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00206-9

By:

Murakami, Haruka;
Tanimoto, Yoko;
Tanimoto, Kojiro;
Inoue, Satomi;
Ishikawa, Taisuke;
Makita, Naomasa;
Yamazawa, Kazuki

Publication type:

Article

A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00204-x

By:

Koh, Kishin;
Shimazaki, Haruo;
Ogawa, Matsuo;
Takiyama, Yoshihisa

Publication type:

Article

A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00204-x

By:

Koh, Kishin;
Shimazaki, Haruo;
Ogawa, Matsuo;
Takiyama, Yoshihisa

Publication type:

Article

A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00203-y

By:

Sofronova, Viktoriia;
Fukushima, Yu;
Masuno, Mitsuo;
Naka, Mami;
Nagata, Miho;
Ishihara, Yasuki;
Miyashita, Yohei;
Asano, Yoshihiro;
Moriwaki, Takahito;
Iwata, Rina;
Terawaki, Seigo;
Yamanouchi, Yasuko;
Otomo, Takanobu

Publication type:

Article

Succinate dehydrogenase B-deficient renal cell carcinoma with a germline variant in a Japanese patient: a case report.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00202-z

By:

Higashi, Shinichiro;
Sasaki, Takeshi;
Uchida, Katsunori;
Kageyama, Takumi;
Ikejiri, Makoto;
Matsumoto, Ryuki;
Kato, Manabu;
Masui, Satoru;
Yoshio, Yuko;
Nishikawa, Kouhei;
Okugawa, Yoshinaga;
Watanabe, Masatoshi;
Inoue, Takahiro

Publication type:

Article

A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00199-5

By:

Yakabe, Ayane;
Ikuse, Tamaki;
Ito, Natsuki;
Yamada, Hiromichi;
Saito, Nobutomo;
Kitamura, Yuri;
Iwasaki, Tomohiro;
Ikeno, Mitsuru;
Suganuma, Hiroki;
Abe, Shinpei;
Miyazaki, Nao;
Hisata, Ken;
Shoji, Hiromichi;
Nakazawa, Tomoyuki;
Eguchi, Hidetaka;
Shimizu, Toshiaki

Publication type:

Article

Correction: A rare homozygous missense mutation of COL7A1 in a Vietnamese family.

Published in:

2022

By:

Duong, Nguyen Thuy;
Anh, Luong Thi Lan;
Sau, Nguyen Huu;
Anh, Nguyen Bao;
Miyake, Noriko;
Van Hai, Nong;
Matsumoto, Naomichi

Publication type:

Correction Notice

Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00197-7

By:

Mori, Jun;
Hasegawa, Tatsuji;
Miyamoto, Yosuke;
Kitamura, Kazumasa;
Morimoto, Hidechika;
Tozawa, Takenori;
Pooh, Ritsuko Kimata;
Chiyonobu, Tomohiro

Publication type:

Article

A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00186-w

By:

Hori, Asuka;
Migita, Ohsuke;
Isogawa, Nobutaka;
Takada, Fumio;
Hata, Kenichiro

Publication type:

Article

Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00196-8

By:

Watanabe, Keisuke;
Noguchi, Atsuko;
Takahashi, Ikuko;
Yamada, Mamiko;
Suzuki, Hisato;
Takenouchi, Toshiki;
Kosaki, Kenjiro;
Takahashi, Tsutomu

Publication type:

Article

Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00193-x

By:

Akahira-Azuma, Moe;
Enomoto, Yumi;
Nakamura, Naoyuki;
Yokoi, Takayuki;
Minatogawa, Mari;
Harada, Noriaki;
Tsurusaki, Yoshinori;
Kurosawa, Kenji

Publication type:

Article

A rare homozygous missense mutation of COL7A1 in a Vietnamese family.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00192-y

By:

Duong, Nguyen Thuy;
Anh, Luong Thi Lan;
Sau, Nguyen Huu;
Anh, Nguyen Bao;
Miyake, Noriko;
Van Hai, Nong;
Matsumoto, Naomichi

Publication type:

Article

Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00194-w

By:

Okazaki, Tetsuya;
Kawaguchi, Tatsuya;
Saiki, Yusuke;
Aoki, Chisako;
Kasagi, Noriko;
Adachi, Kaori;
Saida, Ken;
Matsumoto, Naomichi;
Nanba, Eiji;
Maegaki, Yoshihiro

Publication type:

Article

Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00200-1

By:

Duong, Nguyen Thuy;
Anh, Nguyen Phuong;
Bac, Nguyen Duy;
Quang, Le Bach;
Miyake, Noriko;
Van Hai, Nong;
Matsumoto, Naomichi

Publication type:

Article

Online tools for efficient paper writing.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00195-9

By:

Yamamoto, Yasunori;
Fujiwara, Toyofumi

Publication type:

Article

A rare homozygous missense mutation of COL7A1 in a Vietnamese family.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00192-y

By:

Duong, Nguyen Thuy;
Anh, Luong Thi Lan;
Sau, Nguyen Huu;
Anh, Nguyen Bao;
Miyake, Noriko;
Van Hai, Nong;
Matsumoto, Naomichi

Publication type:

Article

A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00198-6

By:

Hashiguchi, Marina;
Monden, Yukifumi;
Nozaki, Yasuyuki;
Watanabe, Kazuki;
Nakashima, Mitsuko;
Saitsu, Hirotomo;
Yamagata, Takanori;
Osaka, Hitoshi

Publication type:

Article

A rare homozygous missense mutation of COL7A1 in a Vietnamese family.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00192-y

By:

Duong, Nguyen Thuy;
Anh, Luong Thi Lan;
Sau, Nguyen Huu;
Anh, Nguyen Bao;
Noriko, Miyake;
Van Hai, Nong;
Naomichi, Matsumoto

Publication type:

Article

Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00190-0

By:

Sato, Hiroki;
Suga, Kenichi;
Suzue, Masashi;
Honma, Yukako;
Hayabuchi, Yasunobu;
Miyai, Shunsuke;
Kurahashi, Hiroki;
Nakagawa, Ryuji

Publication type:

Article

Novel NARS2 variant causing leigh syndrome with normal lactate levels.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00191-z

By:

Tanaka, Ryosuke;
Takeguchi, Ryo;
Kuroda, Mami;
Suzuki, Nao;
Makita, Yoshio;
Yanagi, Kumiko;
Kaname, Tadashi;
Takahashi, Satoru

Publication type:

Article

Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00189-7

By:

Fukuda, Yuya;
Kudo, Yoshimasa;
Saito, Makoto;
Kaname, Tadashi;
Oota, Tohru;
Shoji, Reikichi

Publication type:

Article

Functional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00188-8

By:

Nath, Siddharth;
Caron, Nicholas S.;
May, Linda;
Gluscencova, Oxana B.;
Kolesar, Jill;
Brady, Lauren;
Kaufman, Brett A.;
Boulianne, Gabrielle L.;
Rodriguez, Amadeo R.;
Tarnopolsky, Mark A.;
Truant, Ray

Publication type:

Article

Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00187-9

By:

Chinen, Yasutsugu;
Nakamura, Sadao;
Yanagi, Kumiko;
Kaneshi, Takuya;
Goya, Hideki;
Yoshida, Tomohide;
Satou, Kazuhito;
Kaname, Tadashi;
Naritomi, Kenji;
Nakanishi, Koichi

Publication type:

Article

Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00185-x

By:

Tomida, Akimasa;
Chiyonobu, Tomohiro;
Tokuda, Shinsaku;
Miyachi, Mitsuru;
Murashima, Kyoko;
Hirata, Makoto;
Nakagawa, Masanori;
Iehara, Tomoko;
Kuroda, Junya;
Takayama, Koichi

Publication type:

Article

Two novel heterozygous variants in ATP1A3 cause movement disorders.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00184-y

By:

Furukawa, Shogo;
Miyamoto, Sachiko;
Fukumura, Shinobu;
Kubota, Kazuo;
Taga, Toshiaki;
Nakashima, Mitsuko;
Saitsu, Hirotomo

Publication type:

Article

Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00183-z

By:

Inagaki, Natsuko;
Hayashi, Takeharu;
Takei, Yasuyoshi;
Kosuge, Hisanori;
Suzuki, Shinji;
Tanimoto, Kousuke;
Chikamori, Taishiro;
Kimura, Akinori

Publication type:

Article

Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-021-00179-1

By:

Yamamoto, Keiko Shimojima;
Utshigisawa, Taiju;
Ogura, Hiromi;
Aoki, Takako;
Kawakami, Takahiro;
Ohga, Shoichi;
Ohara, Akira;
Ito, Etsuro;
Yamamoto, Toshiyuki;
Kanno, Hitoshi

Publication type:

Article

A novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emia.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00182-0

By:

Fan, Luoming;
Miura, Shiroh;
Shimojo, Tomofumi;
Sugino, Hirotoshi;
Fujioka, Ryuta;
Shibata, Hiroki

Publication type:

Article

Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00181-1

By:

Muto, Yoshinari;
Sasaki, Hitomi;
Sumitomo, Makoto;
Inagaki, Hidehito;
Kato, Maki;
Kato, Takema;
Miyai, Shunsuke;
Kurahashi, Hiroki;
Shiroki, Ryoichi

Publication type:

Article