Human genomics

Keyphrases

Publications

volume 17, number 1, 2023

Jean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, Thomas Besnard, Paul Gueguen, Aurélien Perrin, Charles Van Goethem, Camille Verebi, Marion Masingue, John Rendu, Mireille Cossée, Anne Bergougnoux, Laurent Frobert, Julien Buratti, Élodie Lejeune, Éric Le Guern, Florence Pasquier, Fabienne Clot, Vasiliki Kalatzis, Anne-Françoise Roux, Benjamin Cogné, David Baux
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation. Human genomics 17 (1) (2023)
Jean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, Thomas Besnard, Paul Gueguen, Aurélien Perrin, Charles Van Goethem, Camille Verebi, Marion Masingue, John Rendu, Mireille Cossée, Anne Bergougnoux, Laurent Frobert, Julien Buratti, Élodie Lejeune, Éric Le Guern, Florence Pasquier, Fabienne Clot, Vasiliki Kalatzis, Anne-Françoise Roux, Benjamin Cogné, David Baux
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation. Human genomics 17 (1) (2023)
Daigo Okada, Jian Hao Cheng, Cheng Zheng, Tatsuro Kumaki, Ryo Yamada
Data-driven identification and classification of nonlinear aging patterns reveals the landscape of associations between DNA methylation and aging. Human genomics 17 (1) (2023)
Chunya Zhou, Shiya Cai, Yuhong Xie, Zhen Zeng, Jun Zhang, Guannan Su, Qiuying Wu, Xingsheng Ye, Qingfeng Cao, Peizeng Yang, Jianmin Hu
Genetic association of PRKCD and CARD9 polymorphisms with Vogt-Koyanagi-Harada disease in the Chinese Han population. Human genomics 17 (1) (2023)
Jiawen Wang, Lin Yang, Shuhan Duan, Qiuxia Sun, Youjing Li, Jun Wu, Wenxin Wu, Zheng Wang, Yan Liu, Renkuan Tang, Junbao Yang, Chao Liu, Buhong Yuan, Daoyong Wang, Jianwei Xu, Mengge Wang, Guanglin He
Genome-wide allele and haplotype-sharing patterns suggested one unique Hmong-Mein-related lineage and biological adaptation history in Southwest China. Human genomics 17 (1) (2023)
Daigo Okada, Jian Hao Cheng, Cheng Zheng, Tatsuro Kumaki, Ryo Yamada
Data-driven identification and classification of nonlinear aging patterns reveals the landscape of associations between DNA methylation and aging. Human genomics 17 (1) (2023)
Chunya Zhou, Shiya Cai, Yuhong Xie, Zhen Zeng, Jun Zhang, Guannan Su, Qiuying Wu, Xingsheng Ye, Qingfeng Cao, Peizeng Yang, Jianmin Hu
Genetic association of PRKCD and CARD9 polymorphisms with Vogt-Koyanagi-Harada disease in the Chinese Han population. Human genomics 17 (1) (2023)
Tiziana Vaisitti, Valeria Bracciamà, Angelo Corso Faini, Giulia Margherita Brach Del Prever, Martina Callegari, Silvia Kalantari, Fiorenza Mioli, Carmelo Maria Romeo, Maria Luca, Roberta Camilla, Francesca Mattozzi, Bruno Gianoglio, Licia Peruzzi, Antonio Amoroso, Silvia Deaglio
The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution. Human genomics 17 (1) (2023)
Hirofumi Kashii, Shinya Kasai, Atsushi Sato, Yoko Hagino, Yasumasa Nishito, Toshiyuki Kobayashi, Okio Hino, Masashi Mizuguchi, Kazutaka Ikeda
Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex. Human genomics 17 (1) (2023)
Jiawen Wang, Lin Yang, Shuhan Duan, Qiuxia Sun, Youjing Li, Jun Wu, Wenxin Wu, Zheng Wang, Yan Liu, Renkuan Tang, Junbao Yang, Chao Liu, Buhong Yuan, Daoyong Wang, Jianwei Xu, Mengge Wang, Guanglin He
Genome-wide allele and haplotype-sharing patterns suggested one unique Hmong-Mein-related lineage and biological adaptation history in Southwest China. Human genomics 17 (1) (2023)
Setila Dalili, Seyyedeh Azade Hoseini Nouri, Reza Bayat, Shahin Koohmanaee, Manijeh Tabrizi, Marjaneh Zarkesh, Alireza Tarang, Nejat Mahdieh
Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene. Human genomics 17 (1) (2023)
Jinyong Kim, Kyeonghun Jeong, Hyeji Jun, Kwangsoo Kim, Jeong Mo Bae, Myung Geun Song, Hanbaek Yi, Songyi Park, Go-Un Woo, Dae-Won Lee, Tae-Yong Kim, Kyung-Hun Lee, Seock-Ah Im
Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations. Human genomics 17 (1) (2023)
Shengran Wang, Yun Gong, Zun Wang, Xianghe Meng, Zhe Luo, Christopher J Papasian, Jonathan Greenbaum, Yisu Li, Qilan Liang, Yiping Chen, Xiaohua Li, Qiu Xiang, Hiuxi Zhang, Ying Liu, Liang Cheng, Yihe Hu, Lijun Tan, Hui Shen, Hongmei Xiao, Hongwen Deng
Regulon active landscape reveals cell development and functional state changes of human primary osteoblasts in vivo. Human genomics 17 (1) (2023)
Tiziana Vaisitti, Valeria Bracciamà, Angelo Corso Faini, Giulia Margherita Brach Del Prever, Martina Callegari, Silvia Kalantari, Fiorenza Mioli, Carmelo Maria Romeo, Maria Luca, Roberta Camilla, Francesca Mattozzi, Bruno Gianoglio, Licia Peruzzi, Antonio Amoroso, Silvia Deaglio
The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution. Human genomics 17 (1) (2023)
Tiziana Vaisitti, Valeria Bracciamà, Angelo Corso Faini, Giulia Margherita Brach Del Prever, Martina Callegari, Silvia Kalantari, Fiorenza Mioli, Carmelo Maria Romeo, Maria Luca, Roberta Camilla, Francesca Mattozzi, Bruno Gianoglio, Licia Peruzzi, Antonio Amoroso, Silvia Deaglio
The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution. Human genomics 17 (1) (2023)
Jing Ma, Xiuli Ma, Ken Lin, Rui Huang, Xianyun Bi, Cheng Ming, Li Li, Xia Li, Guo Li, Liping Zhao, Tao Yang, Yingqin Gao, Tiesong Zhang
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel. Human genomics 17 (1) (2023)
Chunya Zhou, Shiya Cai, Yuhong Xie, Zhen Zeng, Jun Zhang, Guannan Su, Qiuying Wu, Xingsheng Ye, Qingfeng Cao, Peizeng Yang, Jianmin Hu
Genetic association of PRKCD and CARD9 polymorphisms with Vogt-Koyanagi-Harada disease in the Chinese Han population. Human genomics 17 (1) (2023)
Jean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, Thomas Besnard, Paul Gueguen, Aurélien Perrin, Charles Van Goethem, Camille Verebi, Marion Masingue, John Rendu, Mireille Cossée, Anne Bergougnoux, Laurent Frobert, Julien Buratti, Élodie Lejeune, Éric Le Guern, Florence Pasquier, Fabienne Clot, Vasiliki Kalatzis, Anne-Françoise Roux, Benjamin Cogné, David Baux
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation. Human genomics 17 (1) (2023)
Tom Alix, Céline Chéry, Thomas Josse, Jean-Pierre Bronowicki, François Feillet, Rosa-Maria Guéant-Rodriguez, Farès Namour, Jean-Louis Guéant, Abderrahim Oussalah
Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases. Human genomics 17 (1) (2023)
Hirofumi Kashii, Shinya Kasai, Atsushi Sato, Yoko Hagino, Yasumasa Nishito, Toshiyuki Kobayashi, Okio Hino, Masashi Mizuguchi, Kazutaka Ikeda
Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex. Human genomics 17 (1) (2023)
Jean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, Thomas Besnard, Paul Gueguen, Aurélien Perrin, Charles Van Goethem, Camille Verebi, Marion Masingue, John Rendu, Mireille Cossée, Anne Bergougnoux, Laurent Frobert, Julien Buratti, Élodie Lejeune, Éric Le Guern, Florence Pasquier, Fabienne Clot, Vasiliki Kalatzis, Anne-Françoise Roux, Benjamin Cogné, David Baux
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation. Human genomics 17 (1) (2023)
Jiawen Wang, Lin Yang, Shuhan Duan, Qiuxia Sun, Youjing Li, Jun Wu, Wenxin Wu, Zheng Wang, Yan Liu, Renkuan Tang, Junbao Yang, Chao Liu, Buhong Yuan, Daoyong Wang, Jianwei Xu, Mengge Wang, Guanglin He
Genome-wide allele and haplotype-sharing patterns suggested one unique Hmong-Mein-related lineage and biological adaptation history in Southwest China. Human genomics 17 (1) (2023)
Jia Li, Dongwei Liu, Jingjing Ren, Guangpu Li, Zihao Zhao, Huanhuan Zhao, Qianqian Yan, Jiayu Duan, Zhangsuo Liu
Integrated analysis of RNA methylation regulators crosstalk and immune infiltration for predictive and personalized therapy of diabetic nephropathy. Human genomics 17 (1) (2023)
Jinyong Kim, Kyeonghun Jeong, Hyeji Jun, Kwangsoo Kim, Jeong Mo Bae, Myung Geun Song, Hanbaek Yi, Songyi Park, Go-Un Woo, Dae-Won Lee, Tae-Yong Kim, Kyung-Hun Lee, Seock-Ah Im
Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations. Human genomics 17 (1) (2023)
Jinyong Kim, Kyeonghun Jeong, Hyeji Jun, Kwangsoo Kim, Jeong Mo Bae, Myung Geun Song, Hanbaek Yi, Songyi Park, Go-Un Woo, Dae-Won Lee, Tae-Yong Kim, Kyung-Hun Lee, Seock-Ah Im
Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations. Human genomics 17 (1) (2023)
Setila Dalili, Seyyedeh Azade Hoseini Nouri, Reza Bayat, Shahin Koohmanaee, Manijeh Tabrizi, Marjaneh Zarkesh, Alireza Tarang, Nejat Mahdieh
Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene. Human genomics 17 (1) (2023)
Jing Ma, Xiuli Ma, Ken Lin, Rui Huang, Xianyun Bi, Cheng Ming, Li Li, Xia Li, Guo Li, Liping Zhao, Tao Yang, Yingqin Gao, Tiesong Zhang
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel. Human genomics 17 (1) (2023)
Jiwon Yun, Hyojin Song, Sung-Min Kim, Soonok Kim, Seok Ryun Kwon, Young Eun Lee, Dajeong Jeong, Jae Hyeon Park, Sunghoon Kwon, Hongseok Yun, Dong Soon Lee
Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea. Human genomics 17 (1) (2023)
Shengran Wang, Yun Gong, Zun Wang, Xianghe Meng, Zhe Luo, Christopher J Papasian, Jonathan Greenbaum, Yisu Li, Qilan Liang, Yiping Chen, Xiaohua Li, Qiu Xiang, Hiuxi Zhang, Ying Liu, Liang Cheng, Yihe Hu, Lijun Tan, Hui Shen, Hongmei Xiao, Hongwen Deng
Regulon active landscape reveals cell development and functional state changes of human primary osteoblasts in vivo. Human genomics 17 (1) (2023)
Jing Ma, Xiuli Ma, Ken Lin, Rui Huang, Xianyun Bi, Cheng Ming, Li Li, Xia Li, Guo Li, Liping Zhao, Tao Yang, Yingqin Gao, Tiesong Zhang
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel. Human genomics 17 (1) (2023)
Chunya Zhou, Shiya Cai, Yuhong Xie, Zhen Zeng, Jun Zhang, Guannan Su, Qiuying Wu, Xingsheng Ye, Qingfeng Cao, Peizeng Yang, Jianmin Hu
Genetic association of PRKCD and CARD9 polymorphisms with Vogt-Koyanagi-Harada disease in the Chinese Han population. Human genomics 17 (1) (2023)
Shengran Wang, Yun Gong, Zun Wang, Xianghe Meng, Zhe Luo, Christopher J Papasian, Jonathan Greenbaum, Yisu Li, Qilan Liang, Yiping Chen, Xiaohua Li, Qiu Xiang, Hiuxi Zhang, Ying Liu, Liang Cheng, Yihe Hu, Lijun Tan, Hui Shen, Hongmei Xiao, Hongwen Deng
Regulon active landscape reveals cell development and functional state changes of human primary osteoblasts in vivo. Human genomics 17 (1) (2023)
Jia Li, Dongwei Liu, Jingjing Ren, Guangpu Li, Zihao Zhao, Huanhuan Zhao, Qianqian Yan, Jiayu Duan, Zhangsuo Liu
Integrated analysis of RNA methylation regulators crosstalk and immune infiltration for predictive and personalized therapy of diabetic nephropathy. Human genomics 17 (1) (2023)
Setila Dalili, Seyyedeh Azade Hoseini Nouri, Reza Bayat, Shahin Koohmanaee, Manijeh Tabrizi, Marjaneh Zarkesh, Alireza Tarang, Nejat Mahdieh
Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene. Human genomics 17 (1) (2023)
Jinyong Kim, Kyeonghun Jeong, Hyeji Jun, Kwangsoo Kim, Jeong Mo Bae, Myung Geun Song, Hanbaek Yi, Songyi Park, Go-Un Woo, Dae-Won Lee, Tae-Yong Kim, Kyung-Hun Lee, Seock-Ah Im
Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations. Human genomics 17 (1) (2023)
Jiawen Wang, Lin Yang, Shuhan Duan, Qiuxia Sun, Youjing Li, Jun Wu, Wenxin Wu, Zheng Wang, Yan Liu, Renkuan Tang, Junbao Yang, Chao Liu, Buhong Yuan, Daoyong Wang, Jianwei Xu, Mengge Wang, Guanglin He
Genome-wide allele and haplotype-sharing patterns suggested one unique Hmong-Mein-related lineage and biological adaptation history in Southwest China. Human genomics 17 (1) (2023)
Tiziana Vaisitti, Valeria Bracciamà, Angelo Corso Faini, Giulia Margherita Brach Del Prever, Martina Callegari, Silvia Kalantari, Fiorenza Mioli, Carmelo Maria Romeo, Maria Luca, Roberta Camilla, Francesca Mattozzi, Bruno Gianoglio, Licia Peruzzi, Antonio Amoroso, Silvia Deaglio
The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution. Human genomics 17 (1) (2023)
Hirofumi Kashii, Shinya Kasai, Atsushi Sato, Yoko Hagino, Yasumasa Nishito, Toshiyuki Kobayashi, Okio Hino, Masashi Mizuguchi, Kazutaka Ikeda
Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex. Human genomics 17 (1) (2023)
Jia Li, Dongwei Liu, Jingjing Ren, Guangpu Li, Zihao Zhao, Huanhuan Zhao, Qianqian Yan, Jiayu Duan, Zhangsuo Liu
Integrated analysis of RNA methylation regulators crosstalk and immune infiltration for predictive and personalized therapy of diabetic nephropathy. Human genomics 17 (1) (2023)
Daigo Okada, Jian Hao Cheng, Cheng Zheng, Tatsuro Kumaki, Ryo Yamada
Data-driven identification and classification of nonlinear aging patterns reveals the landscape of associations between DNA methylation and aging. Human genomics 17 (1) (2023)
Jia Li, Dongwei Liu, Jingjing Ren, Guangpu Li, Zihao Zhao, Huanhuan Zhao, Qianqian Yan, Jiayu Duan, Zhangsuo Liu
Integrated analysis of RNA methylation regulators crosstalk and immune infiltration for predictive and personalized therapy of diabetic nephropathy. Human genomics 17 (1) (2023)
Jiwon Yun, Hyojin Song, Sung-Min Kim, Soonok Kim, Seok Ryun Kwon, Young Eun Lee, Dajeong Jeong, Jae Hyeon Park, Sunghoon Kwon, Hongseok Yun, Dong Soon Lee
Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea. Human genomics 17 (1) (2023)
Tom Alix, Céline Chéry, Thomas Josse, Jean-Pierre Bronowicki, François Feillet, Rosa-Maria Guéant-Rodriguez, Farès Namour, Jean-Louis Guéant, Abderrahim Oussalah
Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases. Human genomics 17 (1) (2023)
Tom Alix, Céline Chéry, Thomas Josse, Jean-Pierre Bronowicki, François Feillet, Rosa-Maria Guéant-Rodriguez, Farès Namour, Jean-Louis Guéant, Abderrahim Oussalah
Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases. Human genomics 17 (1) (2023)
Víctor Raggio, Martín Graña, Erik Winiarski, Santiago Mansilla, Camila Simoes, Soledad Rodríguez, Mariana Brandes, Alejandra Tapié, Laura Rodríguez, Lucía Cibils, Martina Alonso, Jennyfer Martínez, Tamara Fernández-Calero, Fernanda Domínguez, Melania Rosas Mezquida, Laura Castro, Alfredo Cerisola, Hugo Naya, Adriana Cassina, Celia Quijano, Lucía Spangenberg
Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy. Human genomics 17 (1) (2023)
Jiwon Yun, Hyojin Song, Sung-Min Kim, Soonok Kim, Seok Ryun Kwon, Young Eun Lee, Dajeong Jeong, Jae Hyeon Park, Sunghoon Kwon, Hongseok Yun, Dong Soon Lee
Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea. Human genomics 17 (1) (2023)
Daigo Okada, Jian Hao Cheng, Cheng Zheng, Tatsuro Kumaki, Ryo Yamada
Data-driven identification and classification of nonlinear aging patterns reveals the landscape of associations between DNA methylation and aging. Human genomics 17 (1) (2023)
Jinyong Kim, Kyeonghun Jeong, Hyeji Jun, Kwangsoo Kim, Jeong Mo Bae, Myung Geun Song, Hanbaek Yi, Songyi Park, Go-Un Woo, Dae-Won Lee, Tae-Yong Kim, Kyung-Hun Lee, Seock-Ah Im
Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations. Human genomics 17 (1) (2023)
Jing Ma, Xiuli Ma, Ken Lin, Rui Huang, Xianyun Bi, Cheng Ming, Li Li, Xia Li, Guo Li, Liping Zhao, Tao Yang, Yingqin Gao, Tiesong Zhang
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel. Human genomics 17 (1) (2023)
Jing Ma, Xiuli Ma, Ken Lin, Rui Huang, Xianyun Bi, Cheng Ming, Li Li, Xia Li, Guo Li, Liping Zhao, Tao Yang, Yingqin Gao, Tiesong Zhang
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel. Human genomics 17 (1) (2023)