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Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies J. Hum. Genet. (IF 3.5) Pub Date : 2024-03-11 Marwa Kharrat, Chahnez Triki, Abir ben isaa, Wafa Bouchaala, Olfa Alila, Jihen Chouchen, Yosra Ghouliya, Fatma Kamoun, Abdelaziz Tlili, Faiza Fakhfakh
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New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder J. Hum. Genet. (IF 3.5) Pub Date : 2024-03-08 Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid
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A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases J. Hum. Genet. (IF 3.5) Pub Date : 2024-03-08 Jessica Zucco, Federica Baldan, Lorenzo Allegri, Elisa Bregant, Nadia Passon, Alessandra Franzoni, Angela Valentina D’Elia, Flavio Faletra, Giuseppe Damante, Catia Mio
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Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder J. Hum. Genet. (IF 3.5) Pub Date : 2024-03-07 Silvia Morlino, Lorenzo Vaccaro, Maria Pia Leone, Grazia Nardella, Luigi Bisceglia, Rocco Pio Ortore, Giannandrea Verzicco, Lazzaro Cassano, Marco Castori, Davide Cacchiarelli, Lucia Micale
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Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank participants characterises effects on hyperlipidaemia risk J. Hum. Genet. (IF 3.5) Pub Date : 2024-03-07 David Curtis
A previous study of 200,000 exome-sequenced UK Biobank participants investigating the association between rare coding variants and hyperlipidaemia had implicated four genes, LDLR, PCSK9, APOC3 and IFITM5, at exome-wide significance. In addition, a further 43 protein-coding genes were significant with an uncorrected p value of <0.001. Exome sequence data has become available for a further 270,000 participants
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Potential drug targets for gastroesophageal reflux disease and Barrett’s esophagus identified through Mendelian randomization analysis J. Hum. Genet. (IF 3.5) Pub Date : 2024-03-01 Yun-Lu Lin, Tao Yao, Ying-Wei Wang, Zhi-Xiang Zhou, Ze-Chao Hong, Yu Shen, Yu Yan, Yue-Chun Li, Jia-Feng Lin
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Advances in AI and machine learning for predictive medicine J. Hum. Genet. (IF 3.5) Pub Date : 2024-02-29 Alok Sharma, Artem Lysenko, Shangru Jia, Keith A. Boroevich, Tatsuhiko Tsunoda
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Dyssegmental dysplasia Rolland–Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients J. Hum. Genet. (IF 3.5) Pub Date : 2024-02-29 Paniz Farshadyeganeh, Takahiro Yamada, Hirofumi Ohashi, Gen Nishimura, Hiroki Fujita, Yuriko Oishi, Misa Nunode, Shuku Ishikawa, Jun Murotsuki, Yuri Yamashita, Shiro Ikegawa, Tomoo Ogi, Eri Arikawa-Hirasawa, Kinji Ohno
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The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population J. Hum. Genet. (IF 3.5) Pub Date : 2024-02-27 Masashi Idogawa, Tasuku Mariya, Yumi Tanaka, Tsuyoshi Saito, Hiroshi Nakase, Takashi Tokino, Akihiro Sakurai
Hereditary breast and ovarian cancer syndrome (HBOC) resulting from pathogenic variants of BRCA1 or BRCA2 is the most common and well-documented hereditary tumor. Although founder variants have been identified in population-based surveys in various countries, the types of variants are not uniform across races and regions. Recently, the Tohoku Medical Megabank Organization (ToMMo) released whole-genome
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Identifying the genetic associations among the psoriasis patients in eastern India J. Hum. Genet. (IF 3.5) Pub Date : 2024-02-27 Shantanab Das, Aditi Chandra, Anamika Das, Swapan Senapati, Gobinda Chatterjee, Raghunath Chatterjee
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The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease J. Hum. Genet. (IF 3.5) Pub Date : 2024-02-26 Tadashi Inoue, Ryuta Takase, Keiko Uchida, Kazuki Kodo, Kenji Suda, Yoriko Watanabe, Koh-Ichiro Yoshiura, Masaya Kunimatsu, Reina Ishizaki, Kenko Azuma, Kei Inai, Jun Muneuchi, Yoshiyuki Furutani, Hiroyuki Akagawa, Hiroyuki Yamagishi
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Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene J. Hum. Genet. (IF 3.5) Pub Date : 2024-02-19 Emma Matthews, Ella F. Whittle, Faraan Khan, Meriel McEntagart, Christopher J. Carroll
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Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review J. Hum. Genet. (IF 3.5) Pub Date : 2024-02-19 Xiao-Man Zhang, Kai-Li Xu, Jing-Hui Kong, Geng Dong, Shi-Jie Dong, Zhi-Xiao Yang, Shu-Jing Xu, Li Wang, Shu-Ying Luo, Yao-Dong Zhang, Chong-Chen Zhou, Wei-Yue Gu, Shi-Yue Mei
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Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals J. Hum. Genet. (IF 3.5) Pub Date : 2024-02-14 Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía del Pozo-Filíu, Aurelio Hernández-Laín, Ana Arteche-López, Beatriz Morte, Marta Sevilla, Luis Alberto Pérez-Jurado, Pilar Quijada-Fraile, Ana Camacho, Francisco Martínez-Azorín
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CRISPR/Cas9-mediated knock-in cells of the late-onset Alzheimer’s disease-risk variant, SHARPIN G186R, reveal reduced NF-κB pathway and accelerated Aβ secretion J. Hum. Genet. (IF 3.5) Pub Date : 2024-02-13 Yuya Asanomi, Tetsuaki Kimura, Nobuyoshi Shimoda, Daichi Shigemizu, Shumpei Niida, Kouichi Ozaki
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Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population J. Hum. Genet. (IF 3.5) Pub Date : 2024-02-13 Hisao Yaoita, Eiichiro Kawai, Jun Takayama, Shinya Iwasawa, Naoya Saijo, Masayuki Abiko, Kouta Suzuki, Masato Kimura, Akira Ozawa, Gen Tamiya, Shigeo Kure, Atsuo Kikuchi
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A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoforms J. Hum. Genet. (IF 3.5) Pub Date : 2024-02-09 K. E. Ahlers-Dannen, J. Yang, M. M. Spicer, D. Fu, A. DeVore, R. A. Fisher
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Genetic association and functional validation of ZFP36L2 in non-syndromic orofacial cleft subtypes J. Hum. Genet. (IF 3.5) Pub Date : 2024-02-06 Jialin Sun, Mujia Li, Huaqin Sun, Ziyuan Lin, Bing Shi, Zhonglin Jia
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Cardiac manifestations of human ACTA2 variants recapitulated in a zebrafish model J. Hum. Genet. (IF 3.5) Pub Date : 2024-02-05 Wulan Apridita Sebastian, Masanori Inoue, Nobuyuki Shimizu, Ryosuke Sato, Saori Oguri, Tomoyo Itonaga, Shintaro Kishimoto, Hiroshi Shiraishi, Toshikatsu Hanada, Kenji Ihara
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A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene J. Hum. Genet. (IF 3.5) Pub Date : 2024-01-17 Bing Wen, Runqi Tang, Shuyao Tang, Yuan Sun, Jingwen Xu, Dandan Zhao, Tan Wang, Chuanzhu Yan
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Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability J. Hum. Genet. (IF 3.5) Pub Date : 2024-01-17 Yuta Inoue, Naomi Tsuchida, Chong Ae Kim, Bruno de Oliveira Stephan, Matheus Augusto Araujo Castro, Rachel Sayuri Honjo, Debora Romeo Bertola, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Naomichi Matsumoto
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Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology J. Hum. Genet. (IF 3.5) Pub Date : 2024-01-15 Tatsuhiko Naito, Yukinori Okada
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CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy J. Hum. Genet. (IF 3.5) Pub Date : 2024-01-12 Changhee Ha, Darae Kim, Minjung Bak, Jong-Ho Park, Young-gon Kim, Ja-Hyun Jang, Jong-Won Kim, Jin-Oh Choi, Mi-Ae Jang
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Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling J. Hum. Genet. (IF 3.5) Pub Date : 2024-01-12 Eriko Koshimizu, Mitsuhiro Kato, Kazuharu Misawa, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
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C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations J. Hum. Genet. (IF 3.5) Pub Date : 2024-01-10 Moeko Nakashima, Tomoko Shiroshima, Masahiro Fukaya, Takeyuki Sugawara, Hiroyuki Sakagami, Kazuki Yamazawa
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Prediction of protein structure and AI J. Hum. Genet. (IF 3.5) Pub Date : 2024-01-04 Shiho Ohno, Noriyoshi Manabe, Yoshiki Yamaguchi
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Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population J. Hum. Genet. (IF 3.5) Pub Date : 2023-12-22 Li Shan Chen, Cheng Wei Yu, Wei Jiun Li, Wen Chi Hsieh, Yi Ping Li
Carrier screening is important to people have a higher prevalence of severe recessive or X-linked genetic conditions. This study is aimed that the frequency and uncertain nature of genetic variants was identified in Taiwanese population, providing individuals with information at risk of inherited diseases and their heritability to newborns. A total of 480 subjects receiving genetic counseling with
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An update and frequency distribution of Y chromosome haplogroups in modern Japanese males J. Hum. Genet. (IF 3.5) Pub Date : 2023-12-21 Makoto Inoue, Youichi Sato
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RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing J. Hum. Genet. (IF 3.5) Pub Date : 2023-12-15 Ryota Kawakami, Takuya Hiraide, Kazuki Watanabe, Sachiko Miyamoto, Kota Hira, Kazuyuki Komatsu, Hidetoshi Ishigaki, Kimiyoshi Sakaguchi, Masato Maekawa, Keita Yamashita, Tokiko Fukuda, Isao Miyairi, Tsutomu Ogata, Hirotomo Saitsu
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A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities J. Hum. Genet. (IF 3.5) Pub Date : 2023-11-30 Masamune Sakamoto, Kenji Kurosawa, Koji Tanoue, Kazuhiro Iwama, Fumihiko Ishida, Yoshihiro Watanabe, Nobuhiko Okamoto, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Naomichi Matsumoto
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A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C J. Hum. Genet. (IF 3.5) Pub Date : 2023-11-29 Maha S. Zaki, Sherif F. Abdel-Ghafar, Mohamed S. Abdel-Hamid
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Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders J. Hum. Genet. (IF 3.5) Pub Date : 2023-11-27 Yasuhiro Utsuno, Keisuke Hamada, Kohei Hamanaka, Keita Miyoshi, Keiji Tsuchimoto, Satoshi Sunada, Toshiyuki Itai, Masamune Sakamoto, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Satoko Miyatake, Kazuharu Misawa, Takeshi Mizuguchi, Yasuhito Kato, Kuniaki Saito, Kazuhiro Ogata, Naomichi Matsumoto
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Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing J. Hum. Genet. (IF 3.5) Pub Date : 2023-11-22 Regina Gamirova, Elena Shagimardanova, Takehiro Sato, Takayuki Kannon, Rimma Gamirova, Atsushi Tajima
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Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1 J. Hum. Genet. (IF 3.5) Pub Date : 2023-11-10 Hiroaki Murakami, Yumi Enomoto, Tatsuro Kumaki, Noriko Aida, Kenji Kurosawa
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Diversity of thought: public perceptions of genetic testing across ethnic groups in the UK J. Hum. Genet. (IF 3.5) Pub Date : 2023-11-01 Benjamin H. L. Harris, Caitlin McCabe, Hana Shafique, Simon Lammy, Laura Tookman, James Flanagan, Sofia Miron-Barroso, Mark Lythgoe, James Clark, Jason L. Walsh, Matteo Di Giovannantonio, Jonathan Krell
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Integrated omics analyses clarifies ATRX copy number variant of uncertain significance J. Hum. Genet. (IF 3.5) Pub Date : 2023-10-31 Aren E. Marshall, Yijing Liang, Madeline Couse, Haley McConkey, Bekim Sadikovic, Kym M. Boycott, David A. Dyment, Kristin D. Kernohan
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Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers J. Hum. Genet. (IF 3.5) Pub Date : 2023-10-23 Aya Yamazaki, Tomoko Kuroda, Nami Kawasaki, Keiichi Kato, Keiko Shimojima Yamamoto, Takeshi Iwasa, Akira Kuwahara, Yuka Taniguchi, Toshiyuki Takeshita, Yosuke Kita, Mikio Mikami, Minoru Irahara, Toshiyuki Yamamoto
Balanced chromosomal translocation is one of chromosomal variations. Carriers of balanced chromosomal translocations have an increased risk of spontaneous miscarriage. To avoid the risk, preimplantation genetic testing (PGT) using comprehensive genomic copy number analysis has been developed. This study aimed to verify whether and how embryos from couples in which one partner is a balanced translocation
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Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish J. Hum. Genet. (IF 3.5) Pub Date : 2023-10-18 Ranran Zhang, Hongyan Jia, Qinglin Chang, Zongrui Zhang, Chuzhi Peng, Qian Ma, Yi Liang, Shuyan Yang, Yonghong Jiao
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Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan J. Hum. Genet. (IF 3.5) Pub Date : 2023-10-17 Keiichi Mizushima, Yuka Shibata, Shinichi Shirai, Masaaki Matsushima, Satoko Miyatake, Ikuko Iwata, Hiroaki Yaguchi, Naomichi Matsumoto, Ichiro Yabe
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Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian Cohort J. Hum. Genet. (IF 3.5) Pub Date : 2023-10-17 Debashish Danda, Ruchika Goel, Jayakanthan Kabeerdoss, Celi Sun, Sumita Danda, Anisea Lincy Franklin, George Joseph, Swapan K. Nath
We performed genetic association study for genes encoding angiogenic and angiostatic proteins in patients with Takayasu arteritis (TAK). A total of 96 SNPs involving 60 genes were studied. Genotyping was performed in Fluidigm 96.96 Dynamic Array chip. All statistical analysis for SNP evaluation was performed using PLINK software. Initial analyses revealed five SNPs from three genes [IL-18 (encodes
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Analysis of complex chromosomal rearrangement involving chromosome 6 via the integration of optical genomic mapping and molecular cytogenetic methodologies J. Hum. Genet. (IF 3.5) Pub Date : 2023-10-11 Na Hao, Haijuan Lou, Mengmeng Li, Hanzhe Zhang, Jiazhen Chang, Qingwei Qi, Xiya Zhou, Junjie Bai, Jiangshan Guo, Yaru Wang, Yanli Zhang, Yulin Jiang
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Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17 J. Hum. Genet. (IF 3.5) Pub Date : 2023-09-26 Prashant Phulpagar, Vikram V. Holla, Deepti Tomar, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal, Babylakshmi Muthusamy
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Whole exome sequencing and transcriptome analysis in two unrelated patients with novel SET mutations J. Hum. Genet. (IF 3.5) Pub Date : 2023-09-22 Xin Pan, Sihan Liu, Xiaoshu Feng, Li Liu, Xu Zhang, Guanhua Qian, Na Liang, Hong Yao, Xiaojing Dong, Bo Tan
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Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model J. Hum. Genet. (IF 3.5) Pub Date : 2023-09-20 Qianqian Guo, Shuting Ji, Kazuma Takeuchi, Wataru Urasaki, Asuka Suzuki, Yusuke Iwasaki, Hiroko Saito, Zeyu Xu, Masami Arai, Seigo Nakamura, Yukihide Momozawa, Natsuko Chiba, Yoshio Miki, Masaaki Matsuura, Shigeaki Sunada
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Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle J. Hum. Genet. (IF 3.5) Pub Date : 2023-09-12 Carmela Fusco, Grazia Nardella, Silvia Morlino, Lucia Micale, Vincenzo Tragni, Emanuele Agolini, Antonio Novelli, Stefania Massuras, Vincenzo Giambra, Ciro Leonardo Pierri, Marco Castori
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Compound heterozygous variants of THG1L result in autosomal recessive cerebellar ataxia J. Hum. Genet. (IF 3.5) Pub Date : 2023-09-05 Rui Han, Manman Chu, Jinshuang Gao, Junling Wang, Mengyue Wang, Yichao Ma, Tianming Jia, Xiaoli Zhang
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Interaction between the GCKR rs1260326 variant and serum HDL cholesterol contributes to HOMA-β and ISIMatusda in the middle-aged T2D individuals J. Hum. Genet. (IF 3.5) Pub Date : 2023-08-31 Min Shen, Liying Jiang, Hechun Liu, Hao Dai, Hemin Jiang, Yu Qian, Zhixiao Wang, Shuai Zheng, Heng Chen, Tao Yang, Qi Fu, Kuanfeng Xu
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Deciphering the genetic landscape of obesity: a data-driven approach to identifying plausible causal genes and therapeutic targets J. Hum. Genet. (IF 3.5) Pub Date : 2023-08-24 Mia Yang Ang, Fumihiko Takeuchi, Norihiro Kato
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Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation J. Hum. Genet. (IF 3.5) Pub Date : 2023-08-18 Takeshi Mizuguchi, Tomoko Toyota, Eriko Koshimizu, Shinichi Kameyama, Hiromi Fukuda, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Kazuharu Misawa, Satoko Miyatake, Hiroaki Adachi, Naomichi Matsumoto
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Application of the PGT-M strategy using single sperm and/or affected embryos as probands for linkage analysis in males with hereditary tumor syndromes without family history J. Hum. Genet. (IF 3.5) Pub Date : 2023-08-18 Xi Chen, Yuqian Wang, Shuo Guan, Zhiqiang Yan, Xiaohui Zhu, Ying Kuo, Nan Wang, Xu Zhi, Ying Lian, Jin Huang, Ping Liu, Rong Li, Liying Yan, Jie Qiao
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Proteome-wide mendelian randomization identifies causal plasma proteins in venous thromboembolism development J. Hum. Genet. (IF 3.5) Pub Date : 2023-08-03 Haobo Li, Zhu Zhang, Yuting Qiu, Haoyi Weng, Shuai Yuan, Yunxia Zhang, Yu Zhang, Linfeng Xi, Feiya Xu, Xiaofan Ji, Risheng Hao, Peiran Yang, Gang Chen, Xianbo Zuo, Zhenguo Zhai, Chen Wang
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Assessment of whole-exome sequencing results in neurogenetic diseases J. Hum. Genet. (IF 3.5) Pub Date : 2023-07-31 Özgür Balasar, Müşerref Başdemirci
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Exploring the molecular and clinical spectrum of COVID-19-related acute necrotizing encephalopathy in three pediatric cases J. Hum. Genet. (IF 3.5) Pub Date : 2023-07-25 Dong Wu, Yinan Zheng, Ying Li, Mei Peng, Huaming Lin, Kaiyu Wang
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Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families J. Hum. Genet. (IF 3.5) Pub Date : 2023-07-21 Xin Zhang, Yanzhao Guo, Lu Xu, Yilong Wang, Guoxia Sheng, Feng Gao, Zhefeng Yuan
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Demographic history of Ryukyu islanders at the southern part of the Japanese Archipelago inferred from whole-genome resequencing data J. Hum. Genet. (IF 3.5) Pub Date : 2023-07-20 Kae Koganebuchi, Masatoshi Matsunami, Minako Imamura, Yosuke Kawai, Yuki Hitomi, Katsushi Tokunaga, Shiro Maeda, Hajime Ishida, Ryosuke Kimura
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Positive association between serum resistin and smoking was strongest in homozygotes of the G-A haplotype at c.-420 C>G and c.-358 G>A in RETN promoter: the Toon Genome Study J. Hum. Genet. (IF 3.5) Pub Date : 2023-07-10 Toshimi Hadate, Ryoichi Kawamura, Yasuharu Tabara, Koutatsu Maruyama, Misaki Takakado, Yosuke Ikeda, Jun Ohashi, Yasunori Takata, Isao Saito, Haruhiko Osawa
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Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns J. Hum. Genet. (IF 3.5) Pub Date : 2023-07-10 Keiko Shimojima Yamamoto, Takeaki Tamura, Nobuhiko Okamoto, Eriko Nishi, Atsuko Noguchi, Ikuko Takahashi, Yukio Sawaishi, Masaki Shimizu, Hitoshi Kanno, Yohei Minakuchi, Atsushi Toyoda, Toshiyuki Yamamoto
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A Japanese case of ovarian mucinous adenocarcinoma with germline double variants of MSH2 and BRCA2 J. Hum. Genet. (IF 3.5) Pub Date : 2023-07-07 Rina Harada, Hiroyuki Matsubayashi, Yoshimi Kiyozumi, Haruki Kobayashi, Koichi Mitsuya, Kenichiro Imai, Yoichi Yamamoto, Takuma Oishi, Nobuhiro Kado, Seiichiro Nishimura, Satomi Higashigawa, Masakuni Serizawa
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A commentary on Helicobacter pylori and gastric cancer risk in BRCA1/2 pathogenic germline variant carrier. J. Hum. Genet. (IF 3.5) Pub Date : 2023-07-06 Hiroyuki Matsubayashi,Takeo Kosaka,Reiko Yoshida,Arisa Ueki
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Aberrant mRNA processing caused by splicing mutations in TTN-related neuromuscular disorders J. Hum. Genet. (IF 3.5) Pub Date : 2023-07-05 Guangyu Wang, Wenjing Wu, Xiaoqing Lv, Chuanzhu Yan, Pengfei Lin