Genome medicine

Keyphrases

Publications

volume 16, number 1, 2024

Yumei Li, Jianfeng Xu, Chaorong Chen, Zhenhai Lu, Desen Wan, Diange Li, Jason S Li, Allison J Sorg, Curt C Roberts, Shivani Mahajan, Maxime A Gallant, Itai Pinkoviezky, Ya Cui, David J Taggart, Weibo Xie
Multimodal epigenetic sequencing analysis (MESA) of cell-free DNA for non-invasive colorectal cancer detection. Genome medicine 16 (1) (2024)
Gerda Kildisiute, Maria Kalyva, Rasa Elmentaite, Stijn van Dongen, Christine Thevanesan, Alice Piapi, Kirsty Ambridge, Elena Prigmore, Muzlifah Haniffa, Sarah A Teichmann, Karin Straathof, Isidro Cortés-Ciriano, Sam Behjati, Matthew D Young
Transcriptional signals of transformation in human cancer. Genome medicine 16 (1) (2024)
Samuel Ghatan, Jeroen van Rooij, Mandy van Hoek, Cindy G Boer, Janine F Felix, Maryam Kavousi, Vincent W Jaddoe, Eric J G Sijbrands, Carolina Medina-Gomez, Fernando Rivadeneira, Ling Oei
Defining type 2 diabetes polygenic risk scores through colocalization and network-based clustering of metabolic trait genetic associations. Genome medicine 16 (1) (2024)
Muni Hu, Xiaolin Lin, Tiantian Sun, Xiaoyan Shao, Xiaowen Huang, Weiwei Du, Mengzhe Guo, Xiaoqiang Zhu, Yilu Zhou, Tianying Tong, Fangfang Guo, Ting Han, Xiuqi Wu, Yi Shi, Xiuying Xiao, Youwei Zhang, Jie Hong, Hao-Yan Chen
Gut microbiome for predicting immune checkpoint blockade-associated adverse events. Genome medicine 16 (1) (2024)
Alfredo Dueñas Rey, Marta Del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, null null, Carlo Rivolta, Raymond T O'Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P Leroy, Elfride De Baere, Frauke Coppieters
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease. Genome medicine 16 (1) (2024)
Megan J Puckelwartz, Lorenzo L Pesce, Edgar J Hernandez, Gregory Webster, Lisa M Dellefave-Castillo, Mark W Russell, Sarah S Geisler, Samuel D Kearns, Felix Karthik, Susan P Etheridge, Tanner O Monroe, Tess D Pottinger, Prince J Kannankeril, M Benjamin Shoemaker, Darlene Fountain, Dan M Roden, Meghan Faulkner, Heather M MacLeod, Kristin M Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L George, Elizabeth M McNally
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young. Genome medicine 16 (1) (2024)
Gengshen Yin, Liyuan Liu, Ting Yu, Lixiang Yu, Man Feng, Chengjun Zhou, Xiaoying Wang, Guoxin Teng, Zhongbing Ma, Wenzhong Zhou, Chunmiao Ye, Jialin Zhang, Changhua Ji, Linfeng Zhao, Peng Zhou, Yaxun Guo, Xingchen Meng, Qinye Fu, Qiang Zhang, Liang Li, Fei Zhou, Chao Zheng, Yujuan Xiang, Mingming Guo, Yongjiu Wang, Fei Wang, Shuya Huang, Zhi-Gang Yu
Genomic and transcriptomic analysis of breast cancer identifies novel signatures associated with response to neoadjuvant chemotherapy. Genome medicine 16 (1) (2024)
Hang Xu, Huazhu Fu, Yahui Long, Kok Siong Ang, Raman Sethi, Kelvin Chong, Mengwei Li, Rom Uddamvathanak, Hong Kai Lee, Jingjing Ling, Ao Chen, Ling Shao, Longqi Liu, Jinmiao Chen
Unsupervised spatially embedded deep representation of spatial transcriptomics. Genome medicine 16 (1) (2024)
Yicheng Liu, Tianyun Zhang, Ningyuan You, Sai Wu, Ning Shen
MAGPIE: accurate pathogenic prediction for multiple variant types using machine learning approach. Genome medicine 16 (1) (2024)
Chiara Auwerx, Maarja Lepamets, Marie C Sadler, Nicolò Tesio, Sven E Ojavee, Charlie J Clark, Reedik Mägi, null null, Alexandre Reymond, Zoltán Kutalik
Rare copy-number variants as modulators of common disease susceptibility. Genome medicine 16 (1) (2024)
Muni Hu, Xiaolin Lin, Tiantian Sun, Xiaoyan Shao, Xiaowen Huang, Weiwei Du, Mengzhe Guo, Xiaoqiang Zhu, Yilu Zhou, Tianying Tong, Fangfang Guo, Ting Han, Xiuqi Wu, Yi Shi, Xiuying Xiao, Youwei Zhang, Jie Hong, Hao-Yan Chen
Gut microbiome for predicting immune checkpoint blockade-associated adverse events. Genome medicine 16 (1) (2024)
Nan Yan, Weiyan Xie, Dongfang Wang, Qiuyue Fang, Jing Guo, Yiyuan Chen, Xinqi Li, Lei Gong, Jialin Wang, Wenbo Guo, Xuegong Zhang, Yazhuo Zhang, Jin Gu, Chuzhong Li
Single-cell transcriptomic analysis reveals tumor cell heterogeneity and immune microenvironment features of pituitary neuroendocrine tumors. Genome medicine 16 (1) (2024)
Giuseppe Rospo, Rosaria Chilà, Vittoria Matafora, Veronica Basso, Simona Lamba, Alice Bartolini, Angela Bachi, Federica Di Nicolantonio, Anna Mondino, Giovanni Germano, Alberto Bardelli
Non-canonical antigens are the largest fraction of peptides presented by MHC class I in mismatch repair deficient murine colorectal cancer. Genome medicine 16 (1) (2024)
Paul Kiessling, Christoph Kuppe
Spatial multi-omics: novel tools to study the complexity of cardiovascular diseases. Genome medicine 16 (1) (2024)
Paul Kiessling, Christoph Kuppe
Spatial multi-omics: novel tools to study the complexity of cardiovascular diseases. Genome medicine 16 (1) (2024)
Yumei Li, Jianfeng Xu, Chaorong Chen, Zhenhai Lu, Desen Wan, Diange Li, Jason S Li, Allison J Sorg, Curt C Roberts, Shivani Mahajan, Maxime A Gallant, Itai Pinkoviezky, Ya Cui, David J Taggart, Weibo Xie
Multimodal epigenetic sequencing analysis (MESA) of cell-free DNA for non-invasive colorectal cancer detection. Genome medicine 16 (1) (2024)
Hang Xu, Huazhu Fu, Yahui Long, Kok Siong Ang, Raman Sethi, Kelvin Chong, Mengwei Li, Rom Uddamvathanak, Hong Kai Lee, Jingjing Ling, Ao Chen, Ling Shao, Longqi Liu, Jinmiao Chen
Unsupervised spatially embedded deep representation of spatial transcriptomics. Genome medicine 16 (1) (2024)
Alfredo Dueñas Rey, Marta Del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, null null, Carlo Rivolta, Raymond T O'Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P Leroy, Elfride De Baere, Frauke Coppieters
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease. Genome medicine 16 (1) (2024)
Hang Xu, Huazhu Fu, Yahui Long, Kok Siong Ang, Raman Sethi, Kelvin Chong, Mengwei Li, Rom Uddamvathanak, Hong Kai Lee, Jingjing Ling, Ao Chen, Ling Shao, Longqi Liu, Jinmiao Chen
Unsupervised spatially embedded deep representation of spatial transcriptomics. Genome medicine 16 (1) (2024)
Alfredo Dueñas Rey, Marta Del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, null null, Carlo Rivolta, Raymond T O'Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P Leroy, Elfride De Baere, Frauke Coppieters
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease. Genome medicine 16 (1) (2024)
Yicheng Liu, Tianyun Zhang, Ningyuan You, Sai Wu, Ning Shen
MAGPIE: accurate pathogenic prediction for multiple variant types using machine learning approach. Genome medicine 16 (1) (2024)
Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M Allende, Rebeca Alonso-Arias, Andrés Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T Bryceson, Ingrid G Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E Covill, Ottavia M Delmonte, Loubna El Zein, Carlos Flores, Peter K Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M Alsohime, Hagit Baris-Feldman, Manish J Butte, Stefan N Constantinescu, Megan A Cooper, Clifton L Dalgard, Jacques Fellay, James R Heath, Yu-Lung Lau, Richard P Lifton, Tom Maniatis, Trine H Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, null null, null null, null null, null null, null null, null null, null null, null null, Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D Notarangelo, Stephanie Boisson-Dupuis, Helen C Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobat
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19. Genome medicine 16 (1) (2024)
Chiara Auwerx, Maarja Lepamets, Marie C Sadler, Nicolò Tesio, Sven E Ojavee, Charlie J Clark, Reedik Mägi, null null, Alexandre Reymond, Zoltán Kutalik
Rare copy-number variants as modulators of common disease susceptibility. Genome medicine 16 (1) (2024)
Alfredo Dueñas Rey, Marta Del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, null null, Carlo Rivolta, Raymond T O'Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P Leroy, Elfride De Baere, Frauke Coppieters
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease. Genome medicine 16 (1) (2024)
Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M Allende, Rebeca Alonso-Arias, Andrés Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T Bryceson, Ingrid G Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E Covill, Ottavia M Delmonte, Loubna El Zein, Carlos Flores, Peter K Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M Alsohime, Hagit Baris-Feldman, Manish J Butte, Stefan N Constantinescu, Megan A Cooper, Clifton L Dalgard, Jacques Fellay, James R Heath, Yu-Lung Lau, Richard P Lifton, Tom Maniatis, Trine H Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, null null, null null, null null, null null, null null, null null, null null, null null, Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D Notarangelo, Stephanie Boisson-Dupuis, Helen C Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobat
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19. Genome medicine 16 (1) (2024)
Vrunda Trivedi, Changlin Yang, Kelena Klippel, Oleg Yegorov, Christina von Roemeling, Lan Hoang-Minh, Graeme Fenton, Elizabeth Ogando-Rivas, Paul Castillo, Ginger Moore, Kaytora Long-James, Kyle Dyson, Bently Doonan, Catherine Flores, Duane A Mitchell
mRNA-based precision targeting of neoantigens and tumor-associated antigens in malignant brain tumors. Genome medicine 16 (1) (2024)
Nan Yan, Weiyan Xie, Dongfang Wang, Qiuyue Fang, Jing Guo, Yiyuan Chen, Xinqi Li, Lei Gong, Jialin Wang, Wenbo Guo, Xuegong Zhang, Yazhuo Zhang, Jin Gu, Chuzhong Li
Single-cell transcriptomic analysis reveals tumor cell heterogeneity and immune microenvironment features of pituitary neuroendocrine tumors. Genome medicine 16 (1) (2024)
Vrunda Trivedi, Changlin Yang, Kelena Klippel, Oleg Yegorov, Christina von Roemeling, Lan Hoang-Minh, Graeme Fenton, Elizabeth Ogando-Rivas, Paul Castillo, Ginger Moore, Kaytora Long-James, Kyle Dyson, Bently Doonan, Catherine Flores, Duane A Mitchell
mRNA-based precision targeting of neoantigens and tumor-associated antigens in malignant brain tumors. Genome medicine 16 (1) (2024)
Paul Kiessling, Christoph Kuppe
Spatial multi-omics: novel tools to study the complexity of cardiovascular diseases. Genome medicine 16 (1) (2024)
Vrunda Trivedi, Changlin Yang, Kelena Klippel, Oleg Yegorov, Christina von Roemeling, Lan Hoang-Minh, Graeme Fenton, Elizabeth Ogando-Rivas, Paul Castillo, Ginger Moore, Kaytora Long-James, Kyle Dyson, Bently Doonan, Catherine Flores, Duane A Mitchell
mRNA-based precision targeting of neoantigens and tumor-associated antigens in malignant brain tumors. Genome medicine 16 (1) (2024)
Giuseppe Rospo, Rosaria Chilà, Vittoria Matafora, Veronica Basso, Simona Lamba, Alice Bartolini, Angela Bachi, Federica Di Nicolantonio, Anna Mondino, Giovanni Germano, Alberto Bardelli
Non-canonical antigens are the largest fraction of peptides presented by MHC class I in mismatch repair deficient murine colorectal cancer. Genome medicine 16 (1) (2024)
Muni Hu, Xiaolin Lin, Tiantian Sun, Xiaoyan Shao, Xiaowen Huang, Weiwei Du, Mengzhe Guo, Xiaoqiang Zhu, Yilu Zhou, Tianying Tong, Fangfang Guo, Ting Han, Xiuqi Wu, Yi Shi, Xiuying Xiao, Youwei Zhang, Jie Hong, Hao-Yan Chen
Gut microbiome for predicting immune checkpoint blockade-associated adverse events. Genome medicine 16 (1) (2024)
Megan J Puckelwartz, Lorenzo L Pesce, Edgar J Hernandez, Gregory Webster, Lisa M Dellefave-Castillo, Mark W Russell, Sarah S Geisler, Samuel D Kearns, Felix Karthik, Susan P Etheridge, Tanner O Monroe, Tess D Pottinger, Prince J Kannankeril, M Benjamin Shoemaker, Darlene Fountain, Dan M Roden, Meghan Faulkner, Heather M MacLeod, Kristin M Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L George, Elizabeth M McNally
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young. Genome medicine 16 (1) (2024)
Sheng Yang, Xiang Zhou
SRT-Server: powering the analysis of spatial transcriptomic data. Genome medicine 16 (1) (2024)
Hang Xu, Huazhu Fu, Yahui Long, Kok Siong Ang, Raman Sethi, Kelvin Chong, Mengwei Li, Rom Uddamvathanak, Hong Kai Lee, Jingjing Ling, Ao Chen, Ling Shao, Longqi Liu, Jinmiao Chen
Unsupervised spatially embedded deep representation of spatial transcriptomics. Genome medicine 16 (1) (2024)
Yumei Li, Jianfeng Xu, Chaorong Chen, Zhenhai Lu, Desen Wan, Diange Li, Jason S Li, Allison J Sorg, Curt C Roberts, Shivani Mahajan, Maxime A Gallant, Itai Pinkoviezky, Ya Cui, David J Taggart, Weibo Xie
Multimodal epigenetic sequencing analysis (MESA) of cell-free DNA for non-invasive colorectal cancer detection. Genome medicine 16 (1) (2024)
Gengshen Yin, Liyuan Liu, Ting Yu, Lixiang Yu, Man Feng, Chengjun Zhou, Xiaoying Wang, Guoxin Teng, Zhongbing Ma, Wenzhong Zhou, Chunmiao Ye, Jialin Zhang, Changhua Ji, Linfeng Zhao, Peng Zhou, Yaxun Guo, Xingchen Meng, Qinye Fu, Qiang Zhang, Liang Li, Fei Zhou, Chao Zheng, Yujuan Xiang, Mingming Guo, Yongjiu Wang, Fei Wang, Shuya Huang, Zhi-Gang Yu
Genomic and transcriptomic analysis of breast cancer identifies novel signatures associated with response to neoadjuvant chemotherapy. Genome medicine 16 (1) (2024)
Megan J Puckelwartz, Lorenzo L Pesce, Edgar J Hernandez, Gregory Webster, Lisa M Dellefave-Castillo, Mark W Russell, Sarah S Geisler, Samuel D Kearns, Felix Karthik, Susan P Etheridge, Tanner O Monroe, Tess D Pottinger, Prince J Kannankeril, M Benjamin Shoemaker, Darlene Fountain, Dan M Roden, Meghan Faulkner, Heather M MacLeod, Kristin M Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L George, Elizabeth M McNally
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young. Genome medicine 16 (1) (2024)
Samuel Ghatan, Jeroen van Rooij, Mandy van Hoek, Cindy G Boer, Janine F Felix, Maryam Kavousi, Vincent W Jaddoe, Eric J G Sijbrands, Carolina Medina-Gomez, Fernando Rivadeneira, Ling Oei
Defining type 2 diabetes polygenic risk scores through colocalization and network-based clustering of metabolic trait genetic associations. Genome medicine 16 (1) (2024)
Gengshen Yin, Liyuan Liu, Ting Yu, Lixiang Yu, Man Feng, Chengjun Zhou, Xiaoying Wang, Guoxin Teng, Zhongbing Ma, Wenzhong Zhou, Chunmiao Ye, Jialin Zhang, Changhua Ji, Linfeng Zhao, Peng Zhou, Yaxun Guo, Xingchen Meng, Qinye Fu, Qiang Zhang, Liang Li, Fei Zhou, Chao Zheng, Yujuan Xiang, Mingming Guo, Yongjiu Wang, Fei Wang, Shuya Huang, Zhi-Gang Yu
Genomic and transcriptomic analysis of breast cancer identifies novel signatures associated with response to neoadjuvant chemotherapy. Genome medicine 16 (1) (2024)
Gerda Kildisiute, Maria Kalyva, Rasa Elmentaite, Stijn van Dongen, Christine Thevanesan, Alice Piapi, Kirsty Ambridge, Elena Prigmore, Muzlifah Haniffa, Sarah A Teichmann, Karin Straathof, Isidro Cortés-Ciriano, Sam Behjati, Matthew D Young
Transcriptional signals of transformation in human cancer. Genome medicine 16 (1) (2024)
Megan J Puckelwartz, Lorenzo L Pesce, Edgar J Hernandez, Gregory Webster, Lisa M Dellefave-Castillo, Mark W Russell, Sarah S Geisler, Samuel D Kearns, Felix Karthik, Susan P Etheridge, Tanner O Monroe, Tess D Pottinger, Prince J Kannankeril, M Benjamin Shoemaker, Darlene Fountain, Dan M Roden, Meghan Faulkner, Heather M MacLeod, Kristin M Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L George, Elizabeth M McNally
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young. Genome medicine 16 (1) (2024)
Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M Allende, Rebeca Alonso-Arias, Andrés Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T Bryceson, Ingrid G Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E Covill, Ottavia M Delmonte, Loubna El Zein, Carlos Flores, Peter K Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M Alsohime, Hagit Baris-Feldman, Manish J Butte, Stefan N Constantinescu, Megan A Cooper, Clifton L Dalgard, Jacques Fellay, James R Heath, Yu-Lung Lau, Richard P Lifton, Tom Maniatis, Trine H Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, null null, null null, null null, null null, null null, null null, null null, null null, Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D Notarangelo, Stephanie Boisson-Dupuis, Helen C Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobat
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19. Genome medicine 16 (1) (2024)
Chiara Auwerx, Maarja Lepamets, Marie C Sadler, Nicolò Tesio, Sven E Ojavee, Charlie J Clark, Reedik Mägi, null null, Alexandre Reymond, Zoltán Kutalik
Rare copy-number variants as modulators of common disease susceptibility. Genome medicine 16 (1) (2024)
Shenglin Mei, Adele M Alchahin, Ioanna Tsea, Youmna Kfoury, Taghreed Hirz, Nathan Elias Jeffries, Ting Zhao, Yanxin Xu, Hanyu Zhang, Hirak Sarkar, Shulin Wu, Alexander O Subtelny, John Inge Johnsen, Yida Zhang, Keyan Salari, Chin-Lee Wu, Mark A Randolph, David T Scadden, Douglas M Dahl, John Shin, Peter V Kharchenko, Philip J Saylor, David B Sykes, Ninib Baryawno
Single-cell analysis of immune and stroma cell remodeling in clear cell renal cell carcinoma primary tumors and bone metastatic lesions. Genome medicine 16 (1) (2024)
Sheng Yang, Xiang Zhou
SRT-Server: powering the analysis of spatial transcriptomic data. Genome medicine 16 (1) (2024)
Yicheng Liu, Tianyun Zhang, Ningyuan You, Sai Wu, Ning Shen
MAGPIE: accurate pathogenic prediction for multiple variant types using machine learning approach. Genome medicine 16 (1) (2024)
Christina Canavati, Dana Sherill-Rofe, Lara Kamal, Idit Bloch, Fouad Zahdeh, Elad Sharon, Batel Terespolsky, Islam Abu Allan, Grace Rabie, Mariana Kawas, Hanin Kassem, Karen B Avraham, Paul Renbaum, Ephrat Levy-Lahad, Moien Kanaan, Yuval Tabach
Using multi-scale genomics to associate poorly annotated genes with rare diseases. Genome medicine 16 (1) (2024)
Christina Canavati, Dana Sherill-Rofe, Lara Kamal, Idit Bloch, Fouad Zahdeh, Elad Sharon, Batel Terespolsky, Islam Abu Allan, Grace Rabie, Mariana Kawas, Hanin Kassem, Karen B Avraham, Paul Renbaum, Ephrat Levy-Lahad, Moien Kanaan, Yuval Tabach
Using multi-scale genomics to associate poorly annotated genes with rare diseases. Genome medicine 16 (1) (2024)
Nan Yan, Weiyan Xie, Dongfang Wang, Qiuyue Fang, Jing Guo, Yiyuan Chen, Xinqi Li, Lei Gong, Jialin Wang, Wenbo Guo, Xuegong Zhang, Yazhuo Zhang, Jin Gu, Chuzhong Li
Single-cell transcriptomic analysis reveals tumor cell heterogeneity and immune microenvironment features of pituitary neuroendocrine tumors. Genome medicine 16 (1) (2024)