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Activation of TGF-β signaling in an aortic aneurysm in a patient with Loeys-Dietz syndrome caused by a novel loss-of-function variant of TGFBR1

JOURNAL ARTICLE published 18 January 2019 in Human Genome Variation

Authors: Hironori Hara | Norifumi Takeda | Takayuki Fujiwara | Hiroki Yagi | Sonoko Maemura | Tsubasa Kanaya | Kan Nawata | Hiroyuki Morita | Issei Komuro

https://doi.org/10.1038/s41439-019-0038-x Actions

Identification of ITPA on chromosome 20 as a susceptibility gene for young-onset tuberculosis

JOURNAL ARTICLE published 4 February 2016 in Human Genome Variation

Authors: Ayaka Nakauchi | Jing Hao Wong | Surakameth Mahasirimongkol | Hideki Yanai | Rika Yuliwulandari | Akihiko Mabuchi | Xiaoxi Liu | Taisei Mushiroda | Sukanya Wattanapokayakit | Taku Miyagawa | Naoto Keicho | Katsushi Tokunaga

https://doi.org/10.1038/hgv.2015.67 Actions

3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome

JOURNAL ARTICLE published 18 June 2019 in Human Genome Variation

Research funded by Japan Agency for Medical Research and Development (JP18km0105001,JP18km0105002,JP18km0105001,JP18km0105002,JP18km0105001,JP18km0105002,JP18km0105001,JP18km0105002,JP18km0105001,JP18km0105002,JP18km0105001,JP18km0105002,JP18km0105001,JP18km0105002,JP18km0105001,JP18km0105002,JP18km0105001,JP18km0105002,JP18km0105001,JP18km0105002,JP18km0105001,JP18km0105002,JP18km0105001,JP18km0105002,JP18km0105001,JP18km0105002,JP18km0105001,JP18km0105002,JP18km0105001,JP18km0105002,JP18km0105001,JP18km0105002,JP18km0105001,JP18km0105002,JP18km0105001,JP18km0105002,JP18km0105003,JP18km0105001,JP18km0105002,JP18km0105001,JP18km0105002,JP18km0105001,JP18km0105002,JP18km0105001,JP18km0105002)

Authors: Shu Tadaka | Fumiki Katsuoka | Masao Ueki | Kaname Kojima | Satoshi Makino | Sakae Saito | Akihito Otsuki | Chinatsu Gocho | Mika Sakurai-Yageta | Inaho Danjoh | Ikuko N. Motoike | Yumi Yamaguchi-Kabata | Matsuyuki Shirota | Seizo Koshiba | Masao Nagasaki | Naoko Minegishi | Atsushi Hozawa | Shinichi Kuriyama | Atsushi Shimizu | Jun Yasuda | Nobuo Fuse | Gen Tamiya | Masayuki Yamamoto | Kengo Kinoshita | the Tohoku Medical Megabank Project Study Group

https://doi.org/10.1038/s41439-019-0059-5 Actions

Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy

JOURNAL ARTICLE published 3 September 2019 in Human Genome Variation

Research funded by National Natural Science Foundation of China (81000104,81160641,81470521,81160641,81000104,81470521,81160641,81000104,81470521,81160641,81470521,81470521,81160641,81000104,81470521,81160641,81000104)

Authors: Xiafei Dai | Chenqing Zheng | Xuepin Chen | Yibin Tang | Hongmei Zhang | Chao Yan | Huihui Ma | Xiaoping Li

https://doi.org/10.1038/s41439-019-0072-8 Actions

Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction

JOURNAL ARTICLE published 8 June 2018 in Human Genome Variation

Authors: Shion Hayashi | Takayuki Yokoi | Chihiro Hatano | Yumi Enomoto | Yoshinori Tsurusaki | Takuya Naruto | Masahisa Kobayashi | Hiroyuki Ida | Kenji Kurosawa

https://doi.org/10.1038/s41439-018-0011-0 Actions

Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease

JOURNAL ARTICLE published 1 April 2021 in Human Genome Variation

Authors: Keiko Yamamoto-Shimojima | Hiroyuki Akagawa | Kumiko Yanagi | Tadashi Kaname | Nobuhiko Okamoto | Toshiyuki Yamamoto

https://doi.org/10.1038/s41439-021-00144-y Actions

MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM

JOURNAL ARTICLE published 17 January 2022 in Human Genome Variation

Research funded by Japan Agency for Medical Research and Development (JP21ek0109549,JP20ek0109482)

Authors: Fumikatsu Nohara | Go Tajima | Hideo Sasai | Yoshio Makita

https://doi.org/10.1038/s41439-021-00177-3 Actions

A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis

JOURNAL ARTICLE published 10 October 2019 in Human Genome Variation

Authors: Mays Altaraihi | Anne-Marie Gerdes | Karin Wadt

https://doi.org/10.1038/s41439-019-0077-3 Actions

Online tools for efficient paper writing

JOURNAL ARTICLE published 6 June 2022 in Human Genome Variation

Authors: Yasunori Yamamoto | Toyofumi Fujiwara

https://doi.org/10.1038/s41439-022-00195-9 Actions

Novel LAMA2 variants identified in a patient with white matter abnormalities

JOURNAL ARTICLE published 26 May 2020 in Human Genome Variation

Authors: Keiko Yamamoto-Shimojima | Hiroaki Ono | Taichi Imaizumi | Toshiyuki Yamamoto

https://doi.org/10.1038/s41439-020-0103-5 Actions

Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach

JOURNAL ARTICLE published 18 August 2016 in Human Genome Variation

Authors: Toshiyuki Yamamoto | Keiko Shimojima | Yumiko Ondo | Katsumi Imai | Pin Fee Chong | Ryutaro Kira | Mitsuhiro Amemiya | Akira Saito | Nobuhiko Okamoto

https://doi.org/10.1038/hgv.2016.25 Actions

A rare homozygous missense mutation of COL7A1 in a Vietnamese family

JOURNAL ARTICLE published 17 May 2022 in Human Genome Variation

Authors: Nguyen Thuy Duong | Luong Thi Lan Anh | Nguyen Huu Sau | Nguyen Bao Anh | Noriko Miyake | Nong Van Hai | Naomichi Matsumoto

https://doi.org/10.1038/s41439-022-00192-y Actions

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

JOURNAL ARTICLE published 22 July 2022 in Human Genome Variation

Research funded by MEXT | Japan Society for the Promotion of Science (21H03066,21K09418)

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

https://doi.org/10.1038/s41439-022-00202-z Actions

Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits

JOURNAL ARTICLE published 24 November 2016 in Human Genome Variation

Authors: Briana Vecchio-Pagán | Scott M Blackman | Melissa Lee | Melis Atalar | Matthew J Pellicore | Rhonda G Pace | Arianna L Franca | Karen S Raraigh | Neeraj Sharma | Michael R Knowles | Garry R Cutting

https://doi.org/10.1038/hgv.2016.38 Actions

Novel rare variations in genes that regulate developmental change in N-methyl-d-aspartate receptor in patients with schizophrenia

JOURNAL ARTICLE published 1 February 2018 in Human Genome Variation

Authors: Akane Yoshikawa | Fumichika Nishimura | Aya Inai | Yosuke Eriguchi | Masaki Nishioka | Atsuhiko Takaya | Mamoru Tochigi | Yoshiya Kawamura | Tadashi Umekage | Kayoko Kato | Tsukasa Sasaki | Kiyoto Kasai | Chihiro Kakiuchi

https://doi.org/10.1038/hgv.2017.56 Actions

6q21–22 deletion syndrome with interrupted aortic arch

JOURNAL ARTICLE published 11 June 2015 in Human Genome Variation

Authors: Ayumi Matsumoto | Yasuyuki Nozaki | Takaomi Minami | Eriko F Jimbo | Hirohiko Shiraishi | Takanori Yamagata

https://doi.org/10.1038/hgv.2015.15 Actions

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

JOURNAL ARTICLE published 27 January 2022 in Human Genome Variation

Authors: Luoming Fan | Shiroh Miura | Tomofumi Shimojo | Hirotoshi Sugino | Ryuta Fujioka | Hiroki Shibata

https://doi.org/10.1038/s41439-022-00182-0 Actions

BARD1 deletion in a patient with suspected hereditary colorectal cancer

JOURNAL ARTICLE published 15 March 2024 in Human Genome Variation

Research funded by Japan Agency for Medical Research and Development (JP22kk0305020,JP23ck0106872)

Authors: Nobue Takaiso | Issei Imoto | Akiyo Yoshimura | Akira Ouchi | Koji Komori | Hiroji Iwata | Yasuhiro Shimizu

https://doi.org/10.1038/s41439-024-00267-y Actions

Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome

JOURNAL ARTICLE published 27 September 2021 in Human Genome Variation

Authors: Bożena Anna Marszałek-Kruk | Piotr Wójcicki

https://doi.org/10.1038/s41439-021-00168-4 Actions

Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa

JOURNAL ARTICLE published 17 November 2016 in Human Genome Variation

Authors: Inayat Ullah | Firoz Kabir | Clare Brooks S Gottsch | Muhammad Asif Naeem | Aditya A Guru | Radha Ayyagari | Shaheen N Khan | Sheikh Riazuddin | Javed Akram | S Amer Riazuddin

https://doi.org/10.1038/hgv.2016.36 Actions
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