SUBJECTS : Genomevariation | Gene Mutation | Rare Diseases | Disease-associated Gene
LATEST MANUSCRIPTS IN Human Genome Variation
- Zahra Abbasi, Hossein Jafari Khamirani, Seyed Mohammad Bagher Tabei, Jamal Manoochehri, Mehdi Dianatpour, Seyed Alireza Dastgheib. EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review. Human genome variation. 2023, 10 (1): 1
Cited : 1Read More - Shinsuke Hamada, Ikuko Takahashi-Iwata, Katsuya Satoh, Tetsuyuki Kitamoto, Hidehiro Mizusawa, Fumio Moriwaka, Ichiro Yabe. Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia. Human genome variation. 2023, 10 (1): 10Cited : 3Read More
- Mayumi Kusunose, Kaori Muto. Public attitudes toward cloud computing and willingness to share personal health records (PHRs) and genome data for health care research in Japan. Human genome variation. 2023, 10 (1): 11Cited : 3Read More
- Toru Sonoyama, Takashi Ishino, Yui Ogawa, Takashi Oda, Sachio Takeno. Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder. Human genome variation. 2023, 10 (1): 12Cited : 0Read More
- Juhua Ji, Mingming Yang, JunJun Jia, Qi Wu, Ruochen Cong, Hengxiang Cui, Baofeng Zhu, Xin Chu. A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene. Human genome variation. 2023, 10 (1): 13Cited : 3Read More
- Narges Soozangar, Ehsan Abbaspour, Haleh Mokaber, Zahra Nematollahi, Behzad Davarnia. A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran. Human genome variation. 2023, 10 (1): 14Cited : 0Read More
- Yanqiu Liu, Liangwei Mao, Hui Huang, Wei Li, Jianfen Man, Wenqian Zhang, Lina Wang, Long Li, Yan Sun, Teng Zhai, Xueqin Guo, Lique Du, Jin Huang, Hao Li, Yang Wan, Xiaoming Wei. Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform. Human genome variation. 2023, 10 (1): 15Cited : 0Read More
- Asia Parveen, Muhammad Tariq, Sher Alam Khan, Naseebullah Kakar, Amina Arif, Naveed Wasif. A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family. Human genome variation. 2023, 10 (1): 16Cited : 2Read More
- Rina Imanishi, Kouichi Nakau, Sorachi Shimada, Hideharu Oka, Ryo Takeguchi, Ryosuke Tanaka, Tatsutoshi Sugiyama, Mitsumaro Nii, Toshio Okamoto, Ken Nagaya, Yoshio Makita, Kumiko Yanagi, Tadashi Kaname, Satoru Takahashi. A novel HECW2 variant in an infant with congenital long QT syndrome. Human genome variation. 2023, 10 (1): 17Cited : 0Read More
- Tomoyo Yamashita, Junko Hotta, Yukiko Jogu, Eri Sakai, Chie Ono, Haruka Bamba, Hisato Suzuki, Mamiko Yamada, Toshiki Takenouchi, Kenjiro Kosaki, Tohru Yorifuji, Takashi Hamazaki, Toshiyuki Seto. Oculofaciocardiodental syndrome caused by a novel BCOR variant. Human genome variation. 2023, 10 (1): 18Cited : 0Read More
- Keita Hasegawa, Natsuhiko Kumasaka, Kazuhiko Nakabayashi, Hiromi Kamura, Kayoko Maehara, Yoshifumi Kasuga, Kenichiro Hata, Mamoru Tanaka. Genome-wide association study of preterm birth and gestational age in a Japanese population. Human genome variation. 2023, 10 (1): 19Cited : 0Read More
- Marie Lin, Jean A Trejaut. Diversity and distribution of mitochondrial DNA in non-Austronesian-speaking Taiwanese individuals. Human genome variation. 2023, 10 (1): 2Cited : 0Read More
- Yu Kobayashi, Jun Tohyama, Noriyuki Akasaka, Kei Yamada, Moemi Hojo, Eijun Seki, Masaki Miura, Noriko Soma, Takeshi Ono, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto. The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus. Human genome variation. 2023, 10 (1): 20Cited : 0Read More
- Jun Kido, Kimiyasu Egami, Yohei Misumi, Keishin Sugawara, Naomi Tsuchida, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura. X-linked intellectual disability related to a novel variant of KLHL15. Human genome variation. 2023, 10 (1): 21Cited : 0Read More
- Keiko Shimojima Yamamoto, Ayumi Yoshimura, Toshiyuki Yamamoto. Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features. Human genome variation. 2023, 10 (1): 22Cited : 0Read More
