NPJ genomic medicine

Keyphrases

Publications

volume 9, number 1, 2024

Ilias Goranitis, Yan Meng, Melissa Martyn, Stephanie Best, Sophie E Bouffler, Yvonne Bombard, Clara L Gaff, Zornitza Stark
Eliciting parental preferences and values for the return of additional findings from genomic sequencing. NPJ genomic medicine 9 (1) (2024)
Xubing Liu, Fangyuan Hu, Daowei Zhang, Zhe Li, Jianquan He, Shenghai Zhang, Zhenguo Wang, Yingke Zhao, Jiawen Wu, Chen Liu, Chenchen Li, Xin Li, Feng-Juan Gao
Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants. NPJ genomic medicine 9 (1) (2024)
Hannah E Bergom, Laura A Sena, Abderrahman Day, Benjamin Miller, Carly D Miller, John R Lozada, Nicholas Zorko, Jinhua Wang, Eugene Shenderov, Francisco Pereira Lobo, Fernanda Caramella-Pereira, Luigi Marchionni, Charles G Drake, Tamara Lotan, Angelo M De Marzo, Justin Hwang, Emmanuel S Antonarakis
Divergent immune microenvironments in two tumor nodules from a patient with mismatch repair-deficient prostate cancer. NPJ genomic medicine 9 (1) (2024)
Wataru Nakamura, Makoto Hirata, Satoyo Oda, Kenichi Chiba, Ai Okada, Raúl Nicolás Mateos, Masahiro Sugawa, Naoko Iida, Mineko Ushiama, Noriko Tanabe, Hiromi Sakamoto, Shigeki Sekine, Akira Hirasawa, Yosuke Kawai, Katsushi Tokunaga, null null, Shin-Ichi Tsujimoto, Norio Shiba, Shuichi Ito, Teruhiko Yoshida, Yuichi Shiraishi
Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes. NPJ genomic medicine 9 (1) (2024)
Charles H Jones, John R Androsavich, Nina So, Matthew P Jenkins, Derek MacCormack, Andrew Prigodich, Verna Welch, Jane M True, Mikael Dolsten
Breaking the mold with RNA-a "RNAissance" of life science. NPJ genomic medicine 9 (1) (2024)
Ilias Goranitis, Yan Meng, Melissa Martyn, Stephanie Best, Sophie E Bouffler, Yvonne Bombard, Clara L Gaff, Zornitza Stark
Eliciting parental preferences and values for the return of additional findings from genomic sequencing. NPJ genomic medicine 9 (1) (2024)
Yusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, Mark Kvale, Pierre-Marie Martin, Jessica Van Ziffle, W Patrick Devine, Sara L Ackerman, Barbara Ann Koenig, Pui-Yan Kwok, Mary E Norton, Anne Slavotinek, Neil Risch
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population. NPJ genomic medicine 9 (1) (2024)
Hannah E Bergom, Laura A Sena, Abderrahman Day, Benjamin Miller, Carly D Miller, John R Lozada, Nicholas Zorko, Jinhua Wang, Eugene Shenderov, Francisco Pereira Lobo, Fernanda Caramella-Pereira, Luigi Marchionni, Charles G Drake, Tamara Lotan, Angelo M De Marzo, Justin Hwang, Emmanuel S Antonarakis
Divergent immune microenvironments in two tumor nodules from a patient with mismatch repair-deficient prostate cancer. NPJ genomic medicine 9 (1) (2024)
Charles H Jones, John R Androsavich, Nina So, Matthew P Jenkins, Derek MacCormack, Andrew Prigodich, Verna Welch, Jane M True, Mikael Dolsten
Breaking the mold with RNA-a "RNAissance" of life science. NPJ genomic medicine 9 (1) (2024)
Timothy H Ciesielski, Giorgio Sirugo, Sudha K Iyengar, Scott M Williams
Characterizing the pathogenicity of genetic variants: the consequences of context. NPJ genomic medicine 9 (1) (2024)
April Kennedy, Gabriel Ma, Roozbeh Manshaei, Rebekah K Jobling, Raymond H Kim, Tamorah Lewis, Iris Cohn
A call for increased inclusivity and global representation in pharmacogenetic testing. NPJ genomic medicine 9 (1) (2024)
Timothy H Ciesielski, Giorgio Sirugo, Sudha K Iyengar, Scott M Williams
Characterizing the pathogenicity of genetic variants: the consequences of context. NPJ genomic medicine 9 (1) (2024)
Ayda Abolhassani, Zohreh Fattahi, Maryam Beheshtian, Mahsa Fadaee, Raheleh Vazehan, Fatemeh Ahangari, Shima Dehdahsi, Mehrshid Faraji Zonooz, Elham Parsimehr, Zahra Kalhor, Fatemeh Peymani, Maryam Mozaffarpour Nouri, Mojgan Babanejad, Khadijeh Noudehi, Fatemeh Fatehi, Shima Zamanian Najafabadi, Fariba Afroozan, Hilda Yazdan, Bita Bozorgmehr, Azita Azarkeivan, Shokouh Sadat Mahdavi, Pooneh Nikuei, Farzad Fatehi, Payman Jamali, Mahmoud Reza Ashrafi, Parvaneh Karimzadeh, Haleh Habibi, Kimia Kahrizi, Shahriar Nafissi, Ariana Kariminejad, Hossein Najmabadi
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population. NPJ genomic medicine 9 (1) (2024)
Chalermkiat Kansuttiviwat, Pongtawat Lertwilaiwittaya, Ekkapong Roothumnong, Panee Nakthong, Peerawat Dungort, Chutima Meesamarnpong, Warisara Tansa-Nga, Khontawan Pongsuktavorn, Supakit Wiboonthanasarn, Warunya Tititumjariya, Nannipa Phuphuripan, Chittapat Lertbussarakam, Jantanee Wattanarangsan, Jiraporn Sritun, Kittiporn Punuch, Jirayu Kammarabutr, Pornthira Mutirangura, Wanna Thongnoppakhun, Chanin Limwongse, Manop Pithukpakorn
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand. NPJ genomic medicine 9 (1) (2024)
Wataru Nakamura, Makoto Hirata, Satoyo Oda, Kenichi Chiba, Ai Okada, Raúl Nicolás Mateos, Masahiro Sugawa, Naoko Iida, Mineko Ushiama, Noriko Tanabe, Hiromi Sakamoto, Shigeki Sekine, Akira Hirasawa, Yosuke Kawai, Katsushi Tokunaga, null null, Shin-Ichi Tsujimoto, Norio Shiba, Shuichi Ito, Teruhiko Yoshida, Yuichi Shiraishi
Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes. NPJ genomic medicine 9 (1) (2024)
Timothy H Ciesielski, Giorgio Sirugo, Sudha K Iyengar, Scott M Williams
Characterizing the pathogenicity of genetic variants: the consequences of context. NPJ genomic medicine 9 (1) (2024)
Yusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, Mark Kvale, Pierre-Marie Martin, Jessica Van Ziffle, W Patrick Devine, Sara L Ackerman, Barbara Ann Koenig, Pui-Yan Kwok, Mary E Norton, Anne Slavotinek, Neil Risch
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population. NPJ genomic medicine 9 (1) (2024)
Hannah E Bergom, Laura A Sena, Abderrahman Day, Benjamin Miller, Carly D Miller, John R Lozada, Nicholas Zorko, Jinhua Wang, Eugene Shenderov, Francisco Pereira Lobo, Fernanda Caramella-Pereira, Luigi Marchionni, Charles G Drake, Tamara Lotan, Angelo M De Marzo, Justin Hwang, Emmanuel S Antonarakis
Divergent immune microenvironments in two tumor nodules from a patient with mismatch repair-deficient prostate cancer. NPJ genomic medicine 9 (1) (2024)
Chalermkiat Kansuttiviwat, Pongtawat Lertwilaiwittaya, Ekkapong Roothumnong, Panee Nakthong, Peerawat Dungort, Chutima Meesamarnpong, Warisara Tansa-Nga, Khontawan Pongsuktavorn, Supakit Wiboonthanasarn, Warunya Tititumjariya, Nannipa Phuphuripan, Chittapat Lertbussarakam, Jantanee Wattanarangsan, Jiraporn Sritun, Kittiporn Punuch, Jirayu Kammarabutr, Pornthira Mutirangura, Wanna Thongnoppakhun, Chanin Limwongse, Manop Pithukpakorn
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand. NPJ genomic medicine 9 (1) (2024)
Gonench Kilich, Kelly Hassey, Edward M Behrens, Marni Falk, Adeline Vanderver, Daniel James Rader, Patrick J Cahill, Anna Raper, Zhe Zhang, Dawn Westerfer, Tanaya Jadhav, Laura Conlin, Kosuke Izumi, Ramakrishnan Rajagopalan, Kathleen E Sullivan, null null
Kagami Ogata syndrome: a small deletion refines critical region for imprinting. NPJ genomic medicine 9 (1) (2024)
Gonench Kilich, Kelly Hassey, Edward M Behrens, Marni Falk, Adeline Vanderver, Daniel James Rader, Patrick J Cahill, Anna Raper, Zhe Zhang, Dawn Westerfer, Tanaya Jadhav, Laura Conlin, Kosuke Izumi, Ramakrishnan Rajagopalan, Kathleen E Sullivan, null null
Kagami Ogata syndrome: a small deletion refines critical region for imprinting. NPJ genomic medicine 9 (1) (2024)
Hsiao-Jung Kao, Ting-Yi Lin, Feng-Jen Hsieh, Jia-Ying Chien, Erh-Chan Yeh, Wan-Jia Lin, Yi-Hua Chen, Kai-Hsuan Ding, Yu Yang, Sheng-Chu Chi, Ping-Hsing Tsai, Chih-Chien Hsu, De-Kuang Hwang, Hsien-Yang Tsai, Mei-Ling Peng, Shi-Huang Lee, Siu-Fung Chau, Chen Yu Chen, Wai-Man Cheang, Shih-Jen Chen, Pui-Yan Kwok, Shih-Hwa Chiou, Mei-Yeh Jade Lu, Shun-Ping Huang
Highly efficient capture approach for the identification of diverse inherited retinal disorders. NPJ genomic medicine 9 (1) (2024)
Xubing Liu, Fangyuan Hu, Daowei Zhang, Zhe Li, Jianquan He, Shenghai Zhang, Zhenguo Wang, Yingke Zhao, Jiawen Wu, Chen Liu, Chenchen Li, Xin Li, Feng-Juan Gao
Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants. NPJ genomic medicine 9 (1) (2024)
Charles H Jones, John R Androsavich, Nina So, Matthew P Jenkins, Derek MacCormack, Andrew Prigodich, Verna Welch, Jane M True, Mikael Dolsten
Breaking the mold with RNA-a "RNAissance" of life science. NPJ genomic medicine 9 (1) (2024)
Hsiao-Jung Kao, Ting-Yi Lin, Feng-Jen Hsieh, Jia-Ying Chien, Erh-Chan Yeh, Wan-Jia Lin, Yi-Hua Chen, Kai-Hsuan Ding, Yu Yang, Sheng-Chu Chi, Ping-Hsing Tsai, Chih-Chien Hsu, De-Kuang Hwang, Hsien-Yang Tsai, Mei-Ling Peng, Shi-Huang Lee, Siu-Fung Chau, Chen Yu Chen, Wai-Man Cheang, Shih-Jen Chen, Pui-Yan Kwok, Shih-Hwa Chiou, Mei-Yeh Jade Lu, Shun-Ping Huang
Highly efficient capture approach for the identification of diverse inherited retinal disorders. NPJ genomic medicine 9 (1) (2024)
April Kennedy, Gabriel Ma, Roozbeh Manshaei, Rebekah K Jobling, Raymond H Kim, Tamorah Lewis, Iris Cohn
A call for increased inclusivity and global representation in pharmacogenetic testing. NPJ genomic medicine 9 (1) (2024)
Yusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, Mark Kvale, Pierre-Marie Martin, Jessica Van Ziffle, W Patrick Devine, Sara L Ackerman, Barbara Ann Koenig, Pui-Yan Kwok, Mary E Norton, Anne Slavotinek, Neil Risch
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population. NPJ genomic medicine 9 (1) (2024)
Debanjan Saha, Ha X Dang, Meng Zhang, David A Quigley, Felix Y Feng, Christopher A Maher
Single cell-transcriptomic analysis informs the lncRNA landscape in metastatic castration resistant prostate cancer. NPJ genomic medicine 9 (1) (2024)
Ayda Abolhassani, Zohreh Fattahi, Maryam Beheshtian, Mahsa Fadaee, Raheleh Vazehan, Fatemeh Ahangari, Shima Dehdahsi, Mehrshid Faraji Zonooz, Elham Parsimehr, Zahra Kalhor, Fatemeh Peymani, Maryam Mozaffarpour Nouri, Mojgan Babanejad, Khadijeh Noudehi, Fatemeh Fatehi, Shima Zamanian Najafabadi, Fariba Afroozan, Hilda Yazdan, Bita Bozorgmehr, Azita Azarkeivan, Shokouh Sadat Mahdavi, Pooneh Nikuei, Farzad Fatehi, Payman Jamali, Mahmoud Reza Ashrafi, Parvaneh Karimzadeh, Haleh Habibi, Kimia Kahrizi, Shahriar Nafissi, Ariana Kariminejad, Hossein Najmabadi
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population. NPJ genomic medicine 9 (1) (2024)
April Kennedy, Gabriel Ma, Roozbeh Manshaei, Rebekah K Jobling, Raymond H Kim, Tamorah Lewis, Iris Cohn
A call for increased inclusivity and global representation in pharmacogenetic testing. NPJ genomic medicine 9 (1) (2024)
Ilias Goranitis, Yan Meng, Melissa Martyn, Stephanie Best, Sophie E Bouffler, Yvonne Bombard, Clara L Gaff, Zornitza Stark
Eliciting parental preferences and values for the return of additional findings from genomic sequencing. NPJ genomic medicine 9 (1) (2024)
Wataru Nakamura, Makoto Hirata, Satoyo Oda, Kenichi Chiba, Ai Okada, Raúl Nicolás Mateos, Masahiro Sugawa, Naoko Iida, Mineko Ushiama, Noriko Tanabe, Hiromi Sakamoto, Shigeki Sekine, Akira Hirasawa, Yosuke Kawai, Katsushi Tokunaga, null null, Shin-Ichi Tsujimoto, Norio Shiba, Shuichi Ito, Teruhiko Yoshida, Yuichi Shiraishi
Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes. NPJ genomic medicine 9 (1) (2024)
Chalermkiat Kansuttiviwat, Pongtawat Lertwilaiwittaya, Ekkapong Roothumnong, Panee Nakthong, Peerawat Dungort, Chutima Meesamarnpong, Warisara Tansa-Nga, Khontawan Pongsuktavorn, Supakit Wiboonthanasarn, Warunya Tititumjariya, Nannipa Phuphuripan, Chittapat Lertbussarakam, Jantanee Wattanarangsan, Jiraporn Sritun, Kittiporn Punuch, Jirayu Kammarabutr, Pornthira Mutirangura, Wanna Thongnoppakhun, Chanin Limwongse, Manop Pithukpakorn
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand. NPJ genomic medicine 9 (1) (2024)
Debanjan Saha, Ha X Dang, Meng Zhang, David A Quigley, Felix Y Feng, Christopher A Maher
Single cell-transcriptomic analysis informs the lncRNA landscape in metastatic castration resistant prostate cancer. NPJ genomic medicine 9 (1) (2024)
Gonench Kilich, Kelly Hassey, Edward M Behrens, Marni Falk, Adeline Vanderver, Daniel James Rader, Patrick J Cahill, Anna Raper, Zhe Zhang, Dawn Westerfer, Tanaya Jadhav, Laura Conlin, Kosuke Izumi, Ramakrishnan Rajagopalan, Kathleen E Sullivan, null null
Kagami Ogata syndrome: a small deletion refines critical region for imprinting. NPJ genomic medicine 9 (1) (2024)
Hannah E Bergom, Laura A Sena, Abderrahman Day, Benjamin Miller, Carly D Miller, John R Lozada, Nicholas Zorko, Jinhua Wang, Eugene Shenderov, Francisco Pereira Lobo, Fernanda Caramella-Pereira, Luigi Marchionni, Charles G Drake, Tamara Lotan, Angelo M De Marzo, Justin Hwang, Emmanuel S Antonarakis
Divergent immune microenvironments in two tumor nodules from a patient with mismatch repair-deficient prostate cancer. NPJ genomic medicine 9 (1) (2024)
Claude Bhérer, Robert Eveleigh, Katerina Trajanoska, Janick St-Cyr, Antoine Paccard, Praveen Nadukkalam Ravindran, Elizabeth Caron, Nimara Bader Asbah, Peyton McClelland, Clare Wei, Iris Baumgartner, Marc Schindewolf, Yvonne Döring, Danielle Perley, François Lefebvre, Pierre Lepage, Mathieu Bourgey, Guillaume Bourque, Jiannis Ragoussis, Vincent Mooser, Daniel Taliun
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome. NPJ genomic medicine 9 (1) (2024)
Claude Bhérer, Robert Eveleigh, Katerina Trajanoska, Janick St-Cyr, Antoine Paccard, Praveen Nadukkalam Ravindran, Elizabeth Caron, Nimara Bader Asbah, Peyton McClelland, Clare Wei, Iris Baumgartner, Marc Schindewolf, Yvonne Döring, Danielle Perley, François Lefebvre, Pierre Lepage, Mathieu Bourgey, Guillaume Bourque, Jiannis Ragoussis, Vincent Mooser, Daniel Taliun
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome. NPJ genomic medicine 9 (1) (2024)
Timothy H Ciesielski, Giorgio Sirugo, Sudha K Iyengar, Scott M Williams
Characterizing the pathogenicity of genetic variants: the consequences of context. NPJ genomic medicine 9 (1) (2024)
Gonench Kilich, Kelly Hassey, Edward M Behrens, Marni Falk, Adeline Vanderver, Daniel James Rader, Patrick J Cahill, Anna Raper, Zhe Zhang, Dawn Westerfer, Tanaya Jadhav, Laura Conlin, Kosuke Izumi, Ramakrishnan Rajagopalan, Kathleen E Sullivan, null null
Kagami Ogata syndrome: a small deletion refines critical region for imprinting. NPJ genomic medicine 9 (1) (2024)
Hannah E Bergom, Laura A Sena, Abderrahman Day, Benjamin Miller, Carly D Miller, John R Lozada, Nicholas Zorko, Jinhua Wang, Eugene Shenderov, Francisco Pereira Lobo, Fernanda Caramella-Pereira, Luigi Marchionni, Charles G Drake, Tamara Lotan, Angelo M De Marzo, Justin Hwang, Emmanuel S Antonarakis
Divergent immune microenvironments in two tumor nodules from a patient with mismatch repair-deficient prostate cancer. NPJ genomic medicine 9 (1) (2024)
Ariel Dadush, Rona Merdler-Rabinowicz, David Gorelik, Ariel Feiglin, Ilana Buchumenski, Lipika R Pal, Shay Ben-Aroya, Eytan Ruppin, Erez Y Levanon
DNA and RNA base editors can correct the majority of pathogenic single nucleotide variants. NPJ genomic medicine 9 (1) (2024)
Gonench Kilich, Kelly Hassey, Edward M Behrens, Marni Falk, Adeline Vanderver, Daniel James Rader, Patrick J Cahill, Anna Raper, Zhe Zhang, Dawn Westerfer, Tanaya Jadhav, Laura Conlin, Kosuke Izumi, Ramakrishnan Rajagopalan, Kathleen E Sullivan, null null
Kagami Ogata syndrome: a small deletion refines critical region for imprinting. NPJ genomic medicine 9 (1) (2024)
Gonench Kilich, Kelly Hassey, Edward M Behrens, Marni Falk, Adeline Vanderver, Daniel James Rader, Patrick J Cahill, Anna Raper, Zhe Zhang, Dawn Westerfer, Tanaya Jadhav, Laura Conlin, Kosuke Izumi, Ramakrishnan Rajagopalan, Kathleen E Sullivan, null null
Kagami Ogata syndrome: a small deletion refines critical region for imprinting. NPJ genomic medicine 9 (1) (2024)
Stephen F Kingsmore, Russell Nofsinger, Katarzyna A Ellsworth
Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review. NPJ genomic medicine 9 (1) (2024)
Kristen M Wigby, Deanna Brockman, Gregory Costain, Caitlin Hale, Stacie L Taylor, John W Belmont, David Bick, David P Dimmock, Susan Fernbach, John Greally, Vaidehi Jobanputra, Shashikant Kulkarni, Elizabeth Spiteri, Ryan J Taft
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders. NPJ genomic medicine 9 (1) (2024)
Xubing Liu, Fangyuan Hu, Daowei Zhang, Zhe Li, Jianquan He, Shenghai Zhang, Zhenguo Wang, Yingke Zhao, Jiawen Wu, Chen Liu, Chenchen Li, Xin Li, Feng-Juan Gao
Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants. NPJ genomic medicine 9 (1) (2024)
Timothy H Ciesielski, Giorgio Sirugo, Sudha K Iyengar, Scott M Williams
Characterizing the pathogenicity of genetic variants: the consequences of context. NPJ genomic medicine 9 (1) (2024)
Hsiao-Jung Kao, Ting-Yi Lin, Feng-Jen Hsieh, Jia-Ying Chien, Erh-Chan Yeh, Wan-Jia Lin, Yi-Hua Chen, Kai-Hsuan Ding, Yu Yang, Sheng-Chu Chi, Ping-Hsing Tsai, Chih-Chien Hsu, De-Kuang Hwang, Hsien-Yang Tsai, Mei-Ling Peng, Shi-Huang Lee, Siu-Fung Chau, Chen Yu Chen, Wai-Man Cheang, Shih-Jen Chen, Pui-Yan Kwok, Shih-Hwa Chiou, Mei-Yeh Jade Lu, Shun-Ping Huang
Highly efficient capture approach for the identification of diverse inherited retinal disorders. NPJ genomic medicine 9 (1) (2024)
Yusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, Mark Kvale, Pierre-Marie Martin, Jessica Van Ziffle, W Patrick Devine, Sara L Ackerman, Barbara Ann Koenig, Pui-Yan Kwok, Mary E Norton, Anne Slavotinek, Neil Risch
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population. NPJ genomic medicine 9 (1) (2024)