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Genomes in clinical care npj Genom. Med. (IF 5.3) Pub Date : 2024-03-14 Olaf Riess, Marc Sturm, Benita Menden, Alexandra Liebmann, German Demidov, Dennis Witt, Nicolas Casadei, Jakob Admard, Leon Schütz, Stephan Ossowski, Stacie Taylor, Sven Schaffer, Christopher Schroeder, Andreas Dufke, Tobias Haack
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Genome-wide association analyses of ovarian cancer patients undergoing primary debulking surgery identify candidate genes for residual disease npj Genom. Med. (IF 5.3) Pub Date : 2024-03-05 Dhanya Ramachandran, Jonathan P. Tyrer, Stefan Kommoss, Anna DeFazio, Marjorie J. Riggan, Penelope M. Webb, Peter A. Fasching, Diether Lambrechts, María J. García, Cristina Rodríguez-Antona, Marc T. Goodman, Francesmary Modugno, Kirsten B. Moysich, Beth Y. Karlan, Jenny Lester, Susanne K. Kjaer, Allan Jensen, Estrid Høgdall, Ellen L. Goode, William A. Cliby, Amanika Kumar, Chen Wang, Julie M. Cunningham
Survival from ovarian cancer depends on the resection status after primary surgery. We performed genome-wide association analyses for resection status of 7705 ovarian cancer patients, including 4954 with high-grade serous carcinoma (HGSOC), to identify variants associated with residual disease. The most significant association with resection status was observed for rs72845444, upstream of MGMT, in
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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies npj Genom. Med. (IF 5.3) Pub Date : 2024-03-01 Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro
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Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review npj Genom. Med. (IF 5.3) Pub Date : 2024-02-27 Stephen F. Kingsmore, Russell Nofsinger, Kasia Ellsworth
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DNA and RNA base editors can correct the majority of pathogenic single nucleotide variants npj Genom. Med. (IF 5.3) Pub Date : 2024-02-26 Ariel Dadush, Rona Merdler-Rabinowicz, David Gorelik, Ariel Feiglin, Ilana Buchumenski, Lipika R. Pal, Shay Ben-Aroya, Eytan Ruppin, Erez Y. Levanon
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Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders npj Genom. Med. (IF 5.3) Pub Date : 2024-02-26 Kristen M. Wigby, Deanna Brockman, Gregory Costain, Caitlin Hale, Stacie L. Taylor, John Belmont, David Bick, David Dimmock, Susan Fernbach, John Greally, Vaidehi Jobanputra, Shashikant Kulkarni, Elizabeth Spiteri, Ryan J. Taft
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Single cell-transcriptomic analysis informs the lncRNA landscape in metastatic castration resistant prostate cancer npj Genom. Med. (IF 5.3) Pub Date : 2024-02-23 Debanjan Saha, Ha X. Dang, Meng Zhang, David A. Quigley, Felix Y. Feng, Christopher A. Maher
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A call for increased inclusivity and global representation in pharmacogenetic testing npj Genom. Med. (IF 5.3) Pub Date : 2024-02-22 April Kennedy, Gabriel Ma, Roozbeh Manshaei, Rebekah K. Jobling, Raymond H. Kim, Tamorah Lewis, Iris Cohn
Commercial pharmacogenetic testing panels capture a fraction of the genetic variation underlying medication metabolism and predisposition to adverse reactions. In this study we compared variation in six pharmacogenes detected by whole genome sequencing (WGS) to a targeted commercial panel in a cohort of 308 individuals with family history of pediatric heart disease. In 1% of the cohort, WGS identified
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Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population npj Genom. Med. (IF 5.3) Pub Date : 2024-02-19 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
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Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes npj Genom. Med. (IF 5.3) Pub Date : 2024-02-17 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, Shin-ichi Tsujimoto, Norio Shiba, Shuichi Ito, Teruhiko Yoshida, Yuichi Shiraishi
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Eliciting parental preferences and values for the return of additional findings from genomic sequencing npj Genom. Med. (IF 5.3) Pub Date : 2024-02-14 Ilias Goranitis, Yan Meng, Melissa Martyn, Stephanie Best, Sophie Bouffler, Yvonne Bombard, Clara Gaff, Zornitza Stark
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Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand npj Genom. Med. (IF 5.3) Pub Date : 2024-02-14 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
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A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome npj Genom. Med. (IF 5.3) Pub Date : 2024-02-07 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
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Divergent immune microenvironments in two tumor nodules from a patient with mismatch repair-deficient prostate cancer npj Genom. Med. (IF 5.3) Pub Date : 2024-01-22 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
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Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants npj Genom. Med. (IF 5.3) Pub Date : 2024-01-20 Xubing Liu, Fangyuan Hu, Daowei Zhang, Zhe Li, Jianquan He, Shenghai Zhang, Zhenguo Wang, Yingke Zhao, Jiawen Wu, Chen Liu, Chenchen Li, Xin Li, Jihong Wu
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Kagami Ogata syndrome: a small deletion refines critical region for imprinting npj Genom. Med. (IF 5.3) Pub Date : 2024-01-11 Gonench Kilich, Kelly Hassey, Edward M. Behrens, Marni Falk, Adeline Vanderver, Daniel J. Rader, Patrick J. Cahill, Anna Raper, Zhe Zhang, Dawn Westerfer, Tanaya Jadhav, Laura Conlin, Kosuke Izumi, Ramakrishnan Rajagopalan, Kathleen E. Sullivan
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Breaking the mold with RNA—a “RNAissance” of life science npj Genom. Med. (IF 5.3) Pub Date : 2024-01-09 Charles H. Jones, John R. Androsavich, Nina So, Matthew P. Jenkins, Derek MacCormack, Andrew Prigodich, Verna Welch, Jane M. True, Mikael Dolsten
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Highly efficient capture approach for the identification of diverse inherited retinal disorders npj Genom. Med. (IF 5.3) Pub Date : 2024-01-09 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
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Characterizing the pathogenicity of genetic variants: the consequences of context npj Genom. Med. (IF 5.3) Pub Date : 2024-01-09 Timothy H. Ciesielski, Giorgio Sirugo, Sudha K. Iyengar, Scott M. Williams
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Genetic ancestry and diagnostic yield of exome sequencing in a diverse population npj Genom. Med. (IF 5.3) Pub Date : 2024-01-03 Yusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, Mark Kvale, Pierre-Marie Martin, Jessica Van Ziffle, W. Patrick Devine, Sara L. Ackerman, Barbara A. Koenig, Pui-Yan Kwok, Mary E. Norton, Anne Slavotinek, Neil Risch
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Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer npj Genom. Med. (IF 5.3) Pub Date : 2023-11-24 Ilya G. Serebriiskii, Valerii A. Pavlov, Grigorii V. Andrianov, Samuel Litwin, Stanley Basickes, Justin Y. Newberg, Garrett M. Frampton, Joshua E. Meyer, Erica A. Golemis
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Populational pan-ethnic screening panel enabled by deep whole genome sequencing npj Genom. Med. (IF 5.3) Pub Date : 2023-11-20 Linfeng Yang, Zhe Lin, Yong Gao, Jianguo Zhang, Huanhuan Peng, Yaqing Li, Jingang Che, Lijian Zhao, Jilin Zhang
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Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13 npj Genom. Med. (IF 5.3) Pub Date : 2023-11-22 Prince Jacob, Hillevi Lindelöf, Cecilie F. Rustad, Vernon Reid Sutton, Shahida Moosa, Prajna Udupa, Anna Hammarsjö, Gandham SriLakshmi Bhavani, Dominyka Batkovskyte, Kristian Tveten, Ashwin Dalal, Eva Horemuzova, Ann Nordgren, Emma Tham, Hitesh Shah, Else Merckoll, Laura Orellana, Gen Nishimura, Katta M. Girisha, Giedre Grigelioniene
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Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome npj Genom. Med. (IF 5.3) Pub Date : 2023-11-04 Bengi Ruken Yavuz, M. Kaan Arici, Habibe Cansu Demirel, Chung-Jung Tsai, Hyunbum Jang, Ruth Nussinov, Nurcan Tuncbag
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Returning incidentally discovered Hepatitis C RNA-seq results to COPDGene study participants npj Genom. Med. (IF 5.3) Pub Date : 2023-10-31 Edwin K. Silverman, Arthur Y. Kim, Barry J. Make, Elizabeth A. Regan, Jarrett D. Morrow, Craig P. Hersh, James O’Brien, James D. Crapo, Nadia N. Hansel, Gerard Criner, Eric L. Flenaugh, Douglas Conrad, Richard Casaburi, Russell P. Bowler, Nicola A. Hanania, R. Graham Barr, Surya P. Bhatt, Frank C. Sciurba, Antonio Anzueto, MeiLan K. Han, Charlene E. McEvoy, Alejandro P. Comellas, Dawn L. DeMeo, Richard
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CNS tumor stroma transcriptomics identify perivascular fibroblasts as predictors of immunotherapy resistance in glioblastoma patients npj Genom. Med. (IF 5.3) Pub Date : 2023-10-26 Maksym Zarodniuk, Alexander Steele, Xin Lu, Jun Li, Meenal Datta
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Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity npj Genom. Med. (IF 5.3) Pub Date : 2023-10-21 Na Zhu, Charles A. LeDuc, Ilene Fennoy, Blandine Laferrère, Claudia A. Doege, Yufeng Shen, Wendy K. Chung, Rudolph L. Leibel
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uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic Telangiectasia npj Genom. Med. (IF 5.3) Pub Date : 2023-10-17 Omar Soukarieh, Emmanuelle Tillet, Carole Proust, Charlène Dupont, Béatrice Jaspard-Vinassa, Florent Soubrier, Aurélie Goyenvalle, Mélanie Eyries, David-Alexandre Trégouët
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Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases npj Genom. Med. (IF 5.3) Pub Date : 2023-10-16 Omid Seidizadeh, Andrea Cairo, Luciano Baronciani, Luca Valenti, Flora Peyvandi
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Clinically significant germline pathogenic variants are missed by tumor genomic sequencing npj Genom. Med. (IF 5.3) Pub Date : 2023-10-13 Leigh Anne Stout, Cynthia Hunter, Courtney Schroeder, Nawal Kassem, Bryan P. Schneider
A germline pathogenic variant may be present even if the results of tumor genomic sequencing do not suggest one. There are key differences in the assay design and reporting of variants between germline and somatic laboratories. When appropriate, both tests should be completed to aid in therapy decisions and determining optimal screening and risk-reduction interventions.
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The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death npj Genom. Med. (IF 5.3) Pub Date : 2023-10-11 Emma S. Singer, Joshua Crowe, Mira Holliday, Julia C. Isbister, Sean Lal, Natalie Nowak, Laura Yeates, Charlotte Burns, Sulekha Rajagopalan, Ivan Macciocca, Ingrid King, Julie Wacker, Jodie Ingles, Robert G. Weintraub, Christopher Semsarian, Richard D. Bagnall
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SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy npj Genom. Med. (IF 5.3) Pub Date : 2023-09-28 Delnaz Roshandel, Eric J. Sanders, Amy Shakeshaft, Naim Panjwani, Fan Lin, Amber Collingwood, Anna Hall, Katherine Keenan, Celine Deneubourg, Filippo Mirabella, Simon Topp, Jana Zarubova, Rhys H. Thomas, Inga Talvik, Marte Syvertsen, Pasquale Striano, Anna B. Smith, Kaja K. Selmer, Guido Rubboli, Alessandro Orsini, Ching Ching Ng, Rikke S. Møller, Kheng Seang Lim, Khalid Hamandi, David A. Greenberg
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Curated incidence of lysosomal storage diseases from the Taiwan Biobank npj Genom. Med. (IF 5.3) Pub Date : 2023-09-23 Meng-Ju Melody Tsai, Miao-Zi Hung, Yi-Lin Lin, Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu
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DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number npj Genom. Med. (IF 5.3) Pub Date : 2023-09-14 Emma Strong, Carolyn B. Mervis, Elaine Tam, Colleen A. Morris, Bonita P. Klein-Tasman, Shelley L. Velleman, Lucy R. Osborne
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A pan-sarcoma landscape of telomeric content shows that alterations in RAD51B and GID4 are associated with higher telomeric content npj Genom. Med. (IF 5.3) Pub Date : 2023-09-14 Radwa Sharaf, Dexter X. Jin, John Grady, Christine Napier, Ericka Ebot, Garrett M. Frampton, Lee A. Albacker, David M. Thomas, Meagan Montesion
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Structural variation of the coding and non-coding human pharmacogenome npj Genom. Med. (IF 5.3) Pub Date : 2023-09-08 Roman Tremmel, Yitian Zhou, Matthias Schwab, Volker M. Lauschke
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Pan-cancer atlas of somatic core and linker histone mutations npj Genom. Med. (IF 5.3) Pub Date : 2023-08-28 Erin R. Bonner, Adam Dawood, Heather Gordish-Dressman, Augustine Eze, Surajit Bhattacharya, Sridevi Yadavilli, Sabine Mueller, Sebastian M. Waszak, Javad Nazarian
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IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma npj Genom. Med. (IF 5.3) Pub Date : 2023-08-14 Ohad Wormser, Yonatan Perez, Vadim Dolgin, Bahman Kamali, Jared A. Tangeman, Libe Gradstein, Yuval Yogev, Noam Hadar, Ofek Freund, Max Drabkin, Daniel Halperin, Inbar Irron, Erika Grajales-Esquivel, Katia Del Rio-Tsonis, Ramon Y. Birnbaum, Gidon Akler, Ohad S. Birk
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Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine npj Genom. Med. (IF 5.3) Pub Date : 2023-08-11 Macarena Las Heras, Benjamín Szenfeld, Rami A. Ballout, Emanuele Buratti, Silvana Zanlungo, Andrea Dardis, Andrés D. Klein
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Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases npj Genom. Med. (IF 5.3) Pub Date : 2023-08-10 Pankhuri Gupta, Kenji Nakamichi, Alyssa C. Bonnell, Ryan Yanagihara, Nick Radulovich, Fuki M. Hisama, Jennifer R. Chao, Debarshi Mustafi
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T-cell priming transcriptomic markers: implications of immunome heterogeneity for precision immunotherapy npj Genom. Med. (IF 5.3) Pub Date : 2023-08-08 Hirotaka Miyashita, Razelle Kurzrock, Nicholas J. Bevins, Kartheeswaran Thangathurai, Suzanna Lee, Sarabjot Pabla, Mary Nesline, Sean T. Glenn, Jeffrey M. Conroy, Paul DePietro, Eitan Rubin, Jason K. Sicklick, Shumei Kato
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Scaling-up and future sustainability of a national reproductive genetic carrier screening program npj Genom. Med. (IF 5.3) Pub Date : 2023-07-31 Zoe Fehlberg, Stephanie Best, Janet C. Long, Tahlia Theodorou, Catherine Pope, Peter Hibbert, Sharon Williams, Lucinda Freeman, Sarah Righetti, Alison D. Archibald, Jeffrey Braithwaite
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Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS npj Genom. Med. (IF 5.3) Pub Date : 2023-07-18 Yingjie Zhao, Yujue Wang, Lijie Shi, Donna M. McDonald-McGinn, T. Blaine Crowley, Daniel E. McGinn, Oanh T. Tran, Daniella Miller, Jhih-Rong Lin, Elaine Zackai, H. Richard Johnston, Eva W. C. Chow, Jacob A. S. Vorstman, Claudia Vingerhoets, Therese van Amelsvoort, Doron Gothelf, Ann Swillen, Jeroen Breckpot, Joris R. Vermeesch, Stephan Eliez, Maude Schneider, Marianne B. M. van den Bree, Michael J
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Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD npj Genom. Med. (IF 5.3) Pub Date : 2023-07-07 Yvonne Hort, Patricia Sullivan, Laura Wedd, Lindsay Fowles, Igor Stevanovski, Ira Deveson, Cas Simons, Andrew Mallett, Chirag Patel, Timothy Furlong, Mark J. Cowley, John Shine, Amali Mallawaarachchi
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Tumor collagens predict genetic features and patient outcomes npj Genom. Med. (IF 5.3) Pub Date : 2023-07-06 Kevin S. Guo, Alexander S. Brodsky
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Integrating somatic CNV and gene expression in breast cancers from women with PTEN hamartoma tumor syndrome npj Genom. Med. (IF 5.3) Pub Date : 2023-07-05 Takae Brewer, Lamis Yehia, Peter Bazeley, Charis Eng
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Investigating genomic medicine practice and perceptions amongst Australian non-genetics physicians to inform education and implementation npj Genom. Med. (IF 5.3) Pub Date : 2023-06-24 Amy Nisselle, Emily King, Bronwyn Terrill, Belinda Davey, Belinda McClaren, Kate Dunlop, Debra Graves, Sylvia Metcalfe, Clara Gaff
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Characteristics of Hepatitis B virus integration and mechanism of inducing chromosome translocation npj Genom. Med. (IF 5.3) Pub Date : 2023-06-02 Xiaofang Cui, Yiyan Li, Hanshi Xu, Yuhui Sun, Shulong Jiang, Weiyang Li
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Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population npj Genom. Med. (IF 5.3) Pub Date : 2023-05-26 Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, Mark Kvale, Billie Lianoglou, Tiffany Yip, Hannah Hoban, Simon Outram, Beatrice Anguiano, Flavia Chen, Jeremy Michelson, Roberta M. Cilio, Cynthia Curry, Renata C. Gallagher, Marisa Gardner, Rachel Kuperman, Bryce Mendelsohn, Elliott Sherr, Joseph Shieh, Jonathan Strober, Allison Tam, Jessica Tenney, William Weiss, Amy Whittle, Garrett Chin, Amanda
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Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina npj Genom. Med. (IF 5.3) Pub Date : 2023-05-22 Patricio G. Schlottmann, José D. Luna, Natalia Labat, María Belén Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Ivón Barbaro, Alejandro Álvarez Mendiara, Carolina P. Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José E. Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, María Emilia Aucar, Daniel M.
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An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations npj Genom. Med. (IF 5.3) Pub Date : 2023-03-06 Frances O. Flanagan, Alexander M. Holtz, Sara O. Vargas, Casie A. Genetti, Klaus Schmitz-Abe, Alicia Casey, John C. Kennedy, Benjamin A. Raby, Mary P. Mullen, Martha P. Fishman, Pankaj B. Agrawal
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PDGF gene expression and p53 alterations contribute to the biology of diffuse astrocytic gliomas npj Genom. Med. (IF 5.3) Pub Date : 2023-02-25 Mehul Kumar, Mathieu Meode, Michael Blough, Gregory Cairncross, Pinaki Bose
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Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots npj Genom. Med. (IF 5.3) Pub Date : 2023-02-14 Yan Ding, Mallory Owen, Jennie Le, Sergey Batalov, Kevin Chau, Yong Hyun Kwon, Lucita Van Der Kraan, Zaira Bezares-Orin, Zhanyang Zhu, Narayanan Veeraraghavan, Shareef Nahas, Matthew Bainbridge, Joe Gleeson, Rebecca J. Baer, Gretchen Bandoli, Christina Chambers, Stephen F. Kingsmore
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Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment npj Genom. Med. (IF 5.3) Pub Date : 2023-02-10 Marie Morimoto, Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F. Macnamara, Jennifer Lange, Anna Lehman, Patricia M. Zerfas, Jennifer L. Murphy, Maria T. Acosta, Camille Wang, Emily Alderman, Sara Reichert, Audrey Thurm, David R. Adams, Wendy J. Introne, Sharon M. Gorski, Cornelius F. Boerkoel, William A. Gahl, Cynthia J. Tifft, May Christine V. Malicdan
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Cross center single-cell RNA sequencing study of the immune microenvironment in rapid progressing multiple myeloma npj Genom. Med. (IF 5.3) Pub Date : 2023-01-26 William Pilcher, Beena E. Thomas, Swati S. Bhasin, Reyka G. Jayasinghe, Lijun Yao, Edgar Gonzalez-Kozlova, Surendra Dasari, Seunghee Kim-Schulze, Adeeb Rahman, Jonathan Patton, Mark Fiala, Giulia Cheloni, Taxiarchis Kourelis, Madhav V. Dhodapkar, Ravi Vij, Shaadi Mehr, Mark Hamilton, Hearn Jay Cho, Daniel Auclair, David E. Avigan, Shaji K. Kumar, Sacha Gnjatic, Li Ding, Manoj Bhasin
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Transcriptomic analyses of patient peripheral blood with hemoglobin depletion reveal glioblastoma biomarkers npj Genom. Med. (IF 5.3) Pub Date : 2023-01-25 Dan Qi, Yiqun Geng, Jacob Cardenas, Jinghua Gu, S. Stephen Yi, Jason H. Huang, Ekokobe Fonkem, Erxi Wu
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Personalized matched targeted therapy in advanced pancreatic cancer: a pilot cohort analysis npj Genom. Med. (IF 5.3) Pub Date : 2023-01-20 Justin Shaya, Shumei Kato, Jacob J. Adashek, Hitendra Patel, Paul T. Fanta, Gregory P. Botta, Jason K. Sicklick, Razelle Kurzrock
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Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept npj Genom. Med. (IF 5.3) Pub Date : 2022-12-28 Mianne Lee, Anna K. Y. Kwong, Martin M. C. Chui, Jeffrey F. T. Chau, Christopher C. Y. Mak, Sandy L. K. Au, Hei Man Lo, Kelvin Y. K. Chan, Vicente A. Yépez, Julien Gagneur, Anita S. Y. Kan, Brian H. Y. Chung
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Germline genetic variation and predicting immune checkpoint inhibitor induced toxicity npj Genom. Med. (IF 5.3) Pub Date : 2022-12-24 Ik Shin Chin, Aman Khan, Anna Olsson-Brown, Sophie Papa, Gary Middleton, Claire Palles
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A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders npj Genom. Med. (IF 5.3) Pub Date : 2022-12-19 Wenjuan Zhu, Chen Wang, Nandita Mullapudi, Yanan Cao, Lin Li, Ivan Fai Man Lo, Stephen Kwok-Wing Tsui, Xiao Chen, Yong Lei, Shen Gu