Works matching IS 2054345X AND DT 2024 AND VI 11 AND IP 1

Results: 47

Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00304-w

By:

Sumida, Takuya;
Ogawa, Shou;
Higo, Shuichiro;
Kuramoto, Yuki;
Eto, Ryo;
Ikeda, Yoshihiko;
Sun, Congcong;
Li, Junjun;
Liu, Li;
Tabata, Tomoka;
Asano, Yoshihiro;
Shiba, Mikio;
Akazawa, Yasuhiro;
Nakamura, Daisuke;
Oka, Takafumi;
Ohtani, Tomohito;
Sakata, Yasushi

Publication type:

Article

High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00301-z

By:

Tanabe, Hiroki;
Koshizuka, Yasuyuki;
Tanaka, Kazuyuki;
Takahashi, Kenji;
Ijiri, Masami;
Takahashi, Keitaro;
Ando, Katsuyoshi;
Ueno, Nobuhiro;
Kashima, Shin;
Sarashina, Takeo;
Moriichi, Kentaro;
Mitsube, Kenrokuro;
Mizukami, Yusuke;
Fujiya, Mikihiro;
Makita, Yoshio

Publication type:

Article

Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00303-x

By:

Hojo, Moemi;
Soma, Noriko;
Yamada, Kei;
Kobayashi, Yu;
Miura, Masaki;
Fujii, Hitomi;
Nyuzuki, Hiromi;
Nishio, Yosuke;
Oso, Taichi;
Ogi, Tomoo;
Ikeuchi, Takeshi;
Tohyama, Jun

Publication type:

Article

Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00302-y

By:

Nakajima, Erika;
Yokohama, Yuko;
Sugiyama, Saori;
Taketazu, Mio;
Mitsube, Kenrokuro;
Yamada, Takahiro;
Hammarsjö, Anna;
Grigelioniene, Giedre;
Nishimura, Gen;
Makita, Yoshio

Publication type:

Article

Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00300-0

By:

Moroto, Masaharu;
Daisuke, Uda;
Yodoi, Tomoya;
Nitta, Yoshihiro;
Sugimoto, Yohei;
Chiyonobu, Tomohiro;
Yamada, Hiroyuki;
Ozaki, Kayo;
Nakatani, Taichi;
Sakai, Norio

Publication type:

Article

Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00299-4

By:

Futagawa, Mashu;
Okazaki, Tetsuya;
Nakata, Eiji;
Fukano, Chika;
Osumi, Risa;
Kato, Fumino;
Urakawa, Yusaku;
Yamamoto, Hideki;
Ozaki, Toshifumi;
Hirasawa, Akira

Publication type:

Article

CFAP43 variant in persistent respiratory symptoms after hematopoietic cell transplantation.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00298-5

By:

Nagasawa, Shun;
Nishimura, Toyoki;
Yamada, Ai;
Kamimura, Sachiyo;
Ishimura, Masataka;
Moritake, Hiroshi

Publication type:

Article

A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00296-7

By:

Akiba, Takato;
Shimada, Shino;
Imai, Katsumi;
Takahashi, Satoru

Publication type:

Article

A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00297-6

By:

Matsuoka, Taro;
Yoshida, Takeshi;
Kora, Kengo;
Yano, Naoko;
Taura, Yoshihiro;
Nakamura, Takashi;
Tozawa, Takenori;
Mori, Jun;
Chiyonobu, Tomohiro

Publication type:

Article

Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00295-8

By:

Pires, Sílvia;
Jorge, Paula;
Liehr, Thomas;
Oliva-Teles, Natália

Publication type:

Article

Detecting adaptive changes in gene copy number distribution accompanying the human out-of-Africa expansion.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00293-w

By:

Otto, Moritz;
Zheng, Yichen;
Grablowitz, Paul;
Wiehe, Thomas

Publication type:

Article

A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00291-y

By:

Shibata, Yuri;
Shibata, Akimichi;
Mizuguchi, Takeshi;
Matsumoto, Naomichi;
Osaka, Hitoshi

Publication type:

Article

Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00286-9

By:

Niida, Yo;
Fujita, Wataru;
Togi, Sumihito;
Ura, Hiroki

Publication type:

Article

Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00285-w

By:

Doi, Hibiki;
Kageyama, Ikuko;
Katoh-Fukui, Yuko;
Hattori, Atsushi;
Fukami, Maki;
Shimura, Naoto

Publication type:

Article

TACSTD2 in gelatinous drop-like corneal dystrophy: variant functional analysis and expression in the cornea after limbal stem cell transplantation.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00284-x

By:

Skorodumova, Liubov O.;
Grafskaia, Ekaterina N.;
Kharlampieva, Daria D.;
Maltsev, Dmitry I.;
Petrova, Tatiana V.;
Kanygina, Alexandra V.;
Fedoseeva, Elena V.;
Makarov, Pavel V.;
Malyugin, Boris E.

Publication type:

Article

Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00294-9

By:

Takaiso, Nobue;
Imoto, Issei;
Matsumoto, Toshihiko;
Yoshimura, Akiyo

Publication type:

Article

Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00283-y

By:

Imai, Takeshi;
Mitsuhashi, Satomi;
Isahaya, Kenji;
Shibata, Soichiro;
Kawai, Yosuke;
Omae, Yosuke;
Tokunaga, Katsushi;
Ishibashi-Ueda, Hatsue;
Tomita, Tsutomu;
Noguchi, Michio;
Takahashi, Ayako;
Goto, Yu-ichi;
Yoshida, Sumiko;
Hattori, Kotaro;
Matsumura, Ryo;
Iida, Aritoshi;
Maruoka, Yutaka;
Gatanaga, Hiroyuki;
Shimomura, Akihiko;
Sugiyama, Masaya

Publication type:

Article

Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00292-x

By:

Mokhtari, Diana;
Jahanpanah, Mohammad;
Jabbari, Nasim;
Azari, Hamed;
Davarnia, Sana;
Mokaber, Haleh;
Arish, Sara;
Molatefi, Rasol;
Abbasi, Vahid;
Davarnia, Behzad

Publication type:

Article

Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00290-z

By:

Masuda, Layla;
Hasegawa, Akihiro;
Kamura, Hiromi;
Hasegawa, Fuyuki;
Yamamura, Michihiro;
Taniguchi, Kosuke;
Ito, Yuki;
Hata, Kenichiro;
Samura, Osamu;
Okamoto, Aikou

Publication type:

Article

Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00287-8

By:

Hanada, Kenta;
Osaki, Yusuke;
Miyamoto, Ryosuke;
Muto, Kohei;
Haji, Shotaro;
Nazere, Keyoumu;
Kuwano, Yuki;
Morino, Hiroyuki;
Azuma, Yoshiteru;
Miyatake, Satoko;
Matsumoto, Naomichi;
Izumi, Yuishin

Publication type:

Article

The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00288-7

By:

Yagi, Shusuke;
Miyamoto, Ryosuke;
Tasaki, Masayoshi;
Morino, Hiroyuki;
Otani, Ryuji;
Kadota, Muneyuki;
Ise, Takayuki;
Yamazaki, Hiroki;
Kusunose, Kenya;
Yamaguchi, Koji;
Yamada, Hirotsugu;
Soeki, Takeshi;
Wakatsuki, Tetsuzo;
Fukuda, Daiju;
Ueda, Mitsuharu;
Sata, Masataka

Publication type:

Article

Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00289-6

By:

Shimojima Yamamoto, Keiko;
Yamamoto, Sakurako;
Imaizumi, Taichi;
Kumada, Satoko;
Yamamoto, Toshiyuki

Publication type:

Article

Identifying unstable CNG repeat loci in the human genome: a heuristic approach and implications for neurological disorders.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00281-0

By:

Suroliya, Varun;
Uppili, Bharathram;
Kumar, Manish;
Jha, Vineet;
Srivastava, Achal K.;
Faruq, Mohammed

Publication type:

Article

Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00282-z

By:

Sako, Shuhei;
Oishi, Kimihiko;
Ida, Hiroyuki;
Imagawa, Eri

Publication type:

Article

Investigating mobile element variations by statistical genetics.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00280-1

By:

Kojima, Shohei

Publication type:

Article

NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00279-8

By:

Tonouchi, Erina;
Morita, Kei-ichi;
Harazono, Yosuke;
Hoshino, Kyoko;
Yoda, Tetsuya

Publication type:

Article

Characteristic craniofacial defects associated with a novel USP9X truncation mutation.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00277-w

By:

Nagata, Namiki;
Kurosaka, Hiroshi;
Higashi, Kotaro;
Yamaguchi, Masaya;
Yamamoto, Sayuri;
Inubushi, Toshihiro;
Nagata, Miho;
Ishihara, Yasuki;
Yonei, Ayumi;
Miyashita, Yohei;
Asano, Yoshihiro;
Sakai, Norio;
Sakata, Yasushi;
Kawabata, Shigetada;
Yamashiro, Takashi

Publication type:

Article

Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00278-9

By:

Shimojima Yamamoto, Keiko;
Itagaki, Yusuke;
Tanaka, Kazuki;
Okamoto, Nobuhiko;
Yamamoto, Toshiyuki

Publication type:

Article

Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00275-y

By:

Aziz, Nur Aisyah;
Musa, Nurul Hidayah;
Mathews, Melina;
Rajenderan, Komalah Thevii;
Abdul Hamid, Faidatul Syazlin;
Hassan, Syahzuwan;
Omar, Syahira Lazira;
Wan Yusoff, Wan Nurul Afiqha Binti;
Mohd Din, Melanie Ling Binti;
Jamaludin, Nurul Amira Binti;
Wan Taib, Wan Rohani;
Esa, Ezalia;
Mohd Yasin, Norafiza

Publication type:

Article

Comparative evaluation of SNVs, indels, and structural variations detected with short- and long-read sequencing data.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00276-x

By:

Kosugi, Shunichi;
Terao, Chikashi

Publication type:

Article

Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00272-1

By:

Inagaki, Natsuko;
Okano, Tomoya;
Kobayashi, Masatake;
Fujii, Masatsune;
Yazaki, Yoshinao;
Takei, Yasuyoshi;
Kosuge, Hisanori;
Suzuki, Shinji;
Hayashi, Takeharu;
Kuroda, Masahiko;
Satomi, Kazuhiro

Publication type:

Article

BARD1 deletion in a patient with suspected hereditary colorectal cancer.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00267-y

By:

Takaiso, Nobue;
Imoto, Issei;
Yoshimura, Akiyo;
Ouchi, Akira;
Komori, Koji;
Iwata, Hiroji;
Shimizu, Yasuhiro

Publication type:

Article

A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00266-z

By:

Kishio, Nozomu;
Iwama, Kazuhiro;
Nakanishi, Sayuri;
Shindo, Ryosuke;
Yasui, Masaki;
Nicho, Naoki;
Takahashi, Atsushi;
Kohara, Mana;
Hirata, Michisato;
Kemmotsu, Takahiro;
Tanoshima, Miki;
Ito, Shuichi

Publication type:

Article

Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00268-x

By:

Takada, Rei;
Tozawa, Takenori;
Yamanaka, Takumi;
Moroto, Masaharu;
Iehara, Tomoko;
Chiyonobu, Tomohiro

Publication type:

Article

Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00270-3

By:

Tanabe, Hiroki;
Ijiri, Masami;
Takahashi, Kenji;
Sasagawa, Honoka;
Kamanaka, Tomomi;
Kuroda, Shohei;
Sato, Hiroki;
Sarashina, Takeo;
Mizukami, Yusuke;
Makita, Yoshio;
Okumura, Toshikatsu

Publication type:

Article

A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00269-w

By:

Azizi, Hasan;
Bonyadi, Mortaza;
Rafat, Abbas

Publication type:

Article

Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00274-z

By:

Nakamura, Shintaro;
Ibi, Kyosuke;
Tanaka, Hiroyuki;
Takami, Hirokazu;
Okada, Keita;
Takasugi, Nao;
Kato, Motohiro;
Takahashi, Naoto;
Inoue, Takanobu

Publication type:

Article

End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00273-0

By:

Hanafusa, Hiroaki;
Yamaguchi, Hiroshi;
Morisada, Naoya;
YE, Ming Juan;
Matsumoto, Riki;
Nagase, Hiroaki;
Nozu, Kandai

Publication type:

Article

A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00271-2

By:

Nakatani, Naoko;
Tamura, Akihiro;
Hanafusa, Hiroaki;
Nino, Nanako;
Yamamoto, Nobuyuki;
Awano, Hiroyuki;
Tanaka, Yasuhiro;
Morisada, Naoya;
Uemura, Suguru;
Saito, Atsuro;
Hasegawa, Daiichiro;
Nozu, Kandai;
Kosaka, Yoshiyuki

Publication type:

Article

A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00265-0

By:

Nyuzuki, Hiromi;
Ozawa, Junichi;
Nagasaki, Keisuke;
Nishio, Yosuke;
Ogi, Tomoo;
Tohyama, Jun;
Ikeuchi, Takeshi

Publication type:

Article

Novel variant of FBN2 in a patient with congenital contractual arachnodactyly.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00264-1

By:

Nakama, Mina;
Miwa, Yuki;
Manabe, Sayaka;
Shimamoto, Shigeru;
Ohnishi, Hidenori

Publication type:

Article

Epigenetic regulation of the nuclear genome associated with mitochondrial dysfunction in Leber's hereditary optic neuropathy (LHON).

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-023-00258-5

By:

Nair, Aswathy P.;
Selvakumar, Ambika;
Gopalarethinam, Janani;
Abishek Kumar, B.;
Vellingiri, Balachandar;
Subramaniam, Mohana Devi

Publication type:

Article

A recurrent synonymous L1CAM variant in a fetus with hydrocephalus.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00263-2

By:

Šubrt, Ivan;
Zavoral, Tomáš;
Strych, Lukáš;
Černá, Monika;
Hejnalová, Markéta;
Komrsková, Pavla;
Tejcová, Jitka

Publication type:

Article

Novel frameshift variant of WNT10A in a Japanese patient with hypodontia.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-023-00259-4

By:

Ando, Michiyo;
Aoki, Yoshihiko;
Sano, Yasuto;
Adachi, Junya;
Sana, Masatoshi;
Miyabe, Satoru;
Watanabe, Satoshi;
Hasegawa, Shogo;
Miyachi, Hitoshi;
Machida, Junichiro;
Goto, Mitsuo;
Tokita, Yoshihito

Publication type:

Article

Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-023-00262-9

By:

Shimomura, Rina;
Yanagishita, Tomoe;
Ishiguro, Kumiko;
Shichiji, Minobu;
Sato, Takatoshi;
Shimojima Yamamoto, Keiko;
Nagata, Miho;
Ishihara, Yasuki;
Miyashita, Yohei;
Ishigaki, Keiko;
Nagata, Satoru;
Asano, Yoshihiro;
Yamamoto, Toshiyuki

Publication type:

Article

Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-023-00261-w

By:

Miura, Shiroh;
Watanabe, Emina;
Senzaki, Kensuke;
Hiruki, Shigeyoshi;
Matsumoto, Sayaka;
Morikawa, Takuya;
Uchiyama, Yusuke;
Kurata, Seiji;
Ochi, Masayuki;
Ohyagi, Yasumasa;
Shibata, Hiroki

Publication type:

Article

A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression.

Published in:

Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-023-00260-x

By:

Tokunaga, Sachi;
Shimomura, Hideki;
Taniguchi, Naoko;
Yanagi, Kumiko;
Kaname, Tadashi;
Okamoto, Nobuhiko;
Takeshima, Yasuhiro

Publication type:

Article