Works matching IS 2054345X AND DT 2023 AND VI 10 AND IP 1

Results: 35

A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00256-7

By:

Watanabe, Kazuki;
Kubota, Kazuo;
Nakashima, Mitsuko;
Saitsu, Hirotomo

Publication type:

Article

Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00257-6

By:

Niida, Yo;
Kobayashi, Azusa;
Togi, Sumihito;
Ura, Hiroki

Publication type:

Article

Correction: Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder.

Published in:

2023

By:

Sonoyama, Toru;
Ishino, Takashi;
Ogawa, Yui;
Oda, Takashi;
Takeno, Sachio

Publication type:

Correction Notice

A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00255-8

By:

Moriwaki, Takahito;
Masuno, Mitsuo;
Nagata, Miho;
Ishihara, Yasuki;
Miyashita, Yohei;
Asano, Yoshihiro;
Takao, Kayo;
Tawa, Kazumi;
Yamanouchi, Yasuko;
Miki, Atsushi;
Otomo, Takanobu

Publication type:

Article

A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00254-9

By:

Mashayekhi, Parisa;
Omrani, Mir Davood;
Tonekaboni, Seyed Hasan;
Dehghanifard, Ali

Publication type:

Article

Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00253-w

By:

Fujimoto, Hana Milena;
Fujimoto, Masanori;
Sugiura, Takahiro;
Nakane, Shigeharu;
Wakano, Yasuhiro;
Sato, Emi;
Oshita, Hironori;
Togawa, Yasuko;
Sugimoto, Mari;
Kato, Takenori;
Yasuda, Kazushi;
Muramatsu, Kanji;
Saitoh, Shinji

Publication type:

Article

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00252-x

By:

Kodama, Yoshihiko;
Meiri, Satoru;
Asada, Tomoko;
Matsuyama, Misayo;
Makino, Shinya;
Iwai, Minayo;
Yamaguchi, Masatoshi;
Moritake, Hiroshi

Publication type:

Article

Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00251-y

By:

Taura, Yoshihiro;
Tozawa, Takenori;
Isoda, Kenichi;
Hirai, Satori;
Chiyonobu, Tomohiro;
Yano, Naoko;
Hayashi, Takahiro;
Yoshida, Takeshi;
Iehara, Tomoko

Publication type:

Article

Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00250-z

By:

Shimojima Yamamoto, Keiko;
Yoshimura, Ayumi;
Yamamoto, Toshiyuki

Publication type:

Article

A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00254-9

By:

Mashayekhi, Parisa;
Omrani, Mir Davood;
Tonekaboni, Seyed Hasan;
Dehghanifard, Ali

Publication type:

Article

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00252-x

By:

Kodama, Yoshihiko;
Meiri, Satoru;
Asada, Tomoko;
Matsuyama, Misayo;
Makino, Shinya;
Iwai, Minayo;
Yamaguchi, Masatoshi;
Moritake, Hiroshi

Publication type:

Article

Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00253-w

By:

Fujimoto, Hana Milena;
Fujimoto, Masanori;
Sugiura, Takahiro;
Nakane, Shigeharu;
Wakano, Yasuhiro;
Sato, Emi;
Oshita, Hironori;
Togawa, Yasuko;
Sugimoto, Mari;
Kato, Takenori;
Yasuda, Kazushi;
Muramatsu, Kanji;
Saitoh, Shinji

Publication type:

Article

Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00251-y

By:

Taura, Yoshihiro;
Tozawa, Takenori;
Isoda, Kenichi;
Hirai, Satori;
Chiyonobu, Tomohiro;
Yano, Naoko;
Hayashi, Takahiro;
Yoshida, Takeshi;
Iehara, Tomoko

Publication type:

Article

Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00250-z

By:

Shimojima Yamamoto, Keiko;
Yoshimura, Ayumi;
Yamamoto, Toshiyuki

Publication type:

Article

X-linked intellectual disability related to a novel variant of KLHL15.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00248-7

By:

Kido, Jun;
Egami, Kimiyasu;
Misumi, Yohei;
Sugawara, Keishin;
Tsuchida, Naomi;
Matsumoto, Naomichi;
Ueda, Mitsuharu;
Nakamura, Kimitoshi

Publication type:

Article

The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00247-8

By:

Kobayashi, Yu;
Tohyama, Jun;
Akasaka, Noriyuki;
Yamada, Kei;
Hojo, Moemi;
Seki, Eijun;
Miura, Masaki;
Soma, Noriko;
Ono, Takeshi;
Kato, Mitsuhiro;
Nakashima, Mitsuko;
Saitsu, Hirotomo;
Matsumoto, Naomichi

Publication type:

Article

Genome-wide association study of preterm birth and gestational age in a Japanese population.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00246-9

By:

Hasegawa, Keita;
Kumasaka, Natsuhiko;
Nakabayashi, Kazuhiko;
Kamura, Hiromi;
Maehara, Kayoko;
Kasuga, Yoshifumi;
Hata, Kenichiro;
Tanaka, Mamoru

Publication type:

Article

Oculofaciocardiodental syndrome caused by a novel BCOR variant.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00244-x

By:

Yamashita, Tomoyo;
Hotta, Junko;
Jogu, Yukiko;
Sakai, Eri;
Ono, Chie;
Bamba, Haruka;
Suzuki, Hisato;
Yamada, Mamiko;
Takenouchi, Toshiki;
Kosaki, Kenjiro;
Yorifuji, Tohru;
Hamazaki, Takashi;
Seto, Toshiyuki

Publication type:

Article

A novel HECW2 variant in an infant with congenital long QT syndrome.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00245-w

By:

Imanishi, Rina;
Nakau, Kouichi;
Shimada, Sorachi;
Oka, Hideharu;
Takeguchi, Ryo;
Tanaka, Ryosuke;
Sugiyama, Tatsutoshi;
Nii, Mitsumaro;
Okamoto, Toshio;
Nagaya, Ken;
Makita, Yoshio;
Yanagi, Kumiko;
Kaname, Tadashi;
Takahashi, Satoru

Publication type:

Article

A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00242-z

By:

Parveen, Asia;
Tariq, Muhammad;
Khan, Sher Alam;
Kakar, Naseebullah;
Arif, Amina;
Wasif, Naveed

Publication type:

Article

Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00238-9

By:

Liu, Yanqiu;
Mao, Liangwei;
Huang, Hui;
Li, Wei;
Man, Jianfen;
Zhang, Wenqian;
Wang, Lina;
Li, Long;
Sun, Yan;
Zhai, Teng;
Guo, Xueqin;
Du, Lique;
Huang, Jin;
Li, Hao;
Wan, Yang;
Wei, Xiaoming

Publication type:

Article

A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00243-y

By:

Soozangar, Narges;
Abbaspour, Ehsan;
Mokaber, Haleh;
Nematollahi, Zahra;
Davarnia, Behzad

Publication type:

Article

A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00241-0

By:

Ji, Juhua;
Yang, Mingming;
Jia, JunJun;
Wu, Qi;
Cong, Ruochen;
Cui, Hengxiang;
Zhu, Baofeng;
Chu, Xin

Publication type:

Article

Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00236-x

By:

Sonoyama, Toru;
Ishino, Takashi;
Ogawa, Yui;
Oda, Takashi;
Takeno, Sachio

Publication type:

Article

Public attitudes toward cloud computing and willingness to share personal health records (PHRs) and genome data for health care research in Japan.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00240-1

By:

Kusunose, Mayumi;
Muto, Kaori

Publication type:

Article

Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00237-w

By:

Hamada, Shinsuke;
Takahashi-Iwata, Ikuko;
Satoh, Katsuya;
Kitamoto, Tetsuyuki;
Mizusawa, Hidehiro;
Moriwaka, Fumio;
Yabe, Ichiro

Publication type:

Article

A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00239-8

By:

Morikawa, Hazuki;
Nishina, Sachiko;
Torii, Kaoruko;
Hosono, Katsuhiro;
Yokoi, Tadashi;
Shigeyasu, Chika;
Yamada, Masakazu;
Kosuga, Motomichi;
Fukami, Maki;
Saitsu, Hirotomo;
Azuma, Noriyuki;
Hori, Yuichi;
Hotta, Yoshihiro

Publication type:

Article

Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00235-y

By:

Nakahara, Erina;
Yamamoto, Keiko Shimojima;
Ogura, Hiromi;
Aoki, Takako;
Utsugisawa, Taiju;
Azuma, Kenko;
Akagawa, Hiroyuki;
Watanabe, Kenichiro;
Muraoka, Michiko;
Nakamura, Fumihiko;
Kamei, Michi;
Tatebayashi, Koji;
Shinozuka, Jun;
Yamane, Takahisa;
Hibino, Makoto;
Katsura, Yoshiya;
Nakano-Akamatsu, Sonoko;
Kadowaki, Norimitsu;
Maru, Yoshiro;
Ito, Etsuro

Publication type:

Article

SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00234-z

By:

AlHargan, Aljouhra;
AlMuhaizea, Mohammed A.;
Almass, Rawan;
Alwadei, Ali H.;
Daghestani, Maha;
Arold, Stefan T.;
Kaya, Namik

Publication type:

Article

Design and implementation of a hybrid cloud system for large-scale human genomic research.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00231-2

By:

Nagasaki, Masao;
Sekiya, Yayoi;
Asakura, Akihiro;
Teraoka, Ryo;
Otokozawa, Ryoko;
Hashimoto, Hiroki;
Kawaguchi, Takahisa;
Fukazawa, Keiichiro;
Inadomi, Yuichi;
Murata, Ken T.;
Ohkawa, Yasuyuki;
Yamaguchi, Izumi;
Mizuhara, Takamichi;
Tokunaga, Katsushi;
Sekiya, Yuji;
Hanawa, Toshihiro;
Yamada, Ryo;
Matsuda, Fumihiko

Publication type:

Article

Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00233-0

By:

Hirofumi Watanabe;
Shin Goto;
Michihiro Hosojima;
Hideyuki Kabasawa;
Naofumi Imai;
Yumi Ito;
Ichiei Narita

Publication type:

Article

GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00232-1

By:

Okano, Satomi;
Makita, Yoshio;
Miyamoto, Akie;
Taketazu, Genya;
Kimura, Kayano;
Fukuda, Ikue;
Tanaka, Hajime;
Yanagi, Kumiko;
Kaname, Tadashi

Publication type:

Article

Novel WNT10A variant in a Japanese case of nonsyndromic oligodontia.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00230-3

By:

Adachi, Junya;
Aoki, Yoshihiko;
Izumi, Hiroto;
Nishiyama, Takeshi;
Nakayama, Atsuo;
Sana, Masatoshi;
Morimoto, Kyoko;
Kaetsu, Atsuo;
Shirozu, Takamasa;
Osumi, Eriko;
Matsuoka, Michiko;
Hayakawa, Eri;
Maeda, Nasel;
Machida, Junichiro;
Nagao, Toru;
Tokita, Yoshihito

Publication type:

Article

Diversity and distribution of mitochondrial DNA in non-Austronesian-speaking Taiwanese individuals.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-022-00228-3

By:

Lin, Marie;
Trejaut, Jean A.

Publication type:

Article

EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review.

Published in:

Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00229-w

By:

Abbasi, Zahra;
Jafari Khamirani, Hossein;
Tabei, Seyed Mohammad Bagher;
Manoochehri, Jamal;
Dianatpour, Mehdi;
Dastgheib, Seyed Alireza

Publication type:

Article