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The salivary metatranscriptome as an accurate diagnostic indicator of oral cancer.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00257-x
By:
- Banavar, Guruduth;
- Ogundijo, Oyetunji;
- Toma, Ryan;
- Rajagopal, Sathyapriya;
- Lim, Yen Kai;
- Tang, Kai;
- Camacho, Francine;
- Torres, Pedro J.;
- Gline, Stephanie;
- Parks, Matthew;
- Kenny, Liz;
- Perlina, Ally;
- Tily, Hal;
- Dimitrova, Nevenka;
- Amar, Salomon;
- Vuyisich, Momchilo;
- Punyadeera, Chamindie
Publication type:
Article
Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00274-w
By:
- Saengkaew, Tansit;
- Ruiz-Babot, Gerard;
- David, Alessia;
- Mancini, Alessandra;
- Mariniello, Katia;
- Cabrera, Claudia P.;
- Barnes, Michael R.;
- Dunkel, Leo;
- Guasti, Leonardo;
- Howard, Sasha R.
Publication type:
Article
Accurate detection of circulating tumor DNA using nanopore consensus sequencing.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00272-y
By:
- Marcozzi, Alessio;
- Jager, Myrthe;
- Elferink, Martin;
- Straver, Roy;
- van Ginkel, Joost H.;
- Peltenburg, Boris;
- Chen, Li-Ting;
- Renkens, Ivo;
- van Kuik, Joyce;
- Terhaard, Chris;
- de Bree, Remco;
- Devriese, Lot A.;
- Willems, Stefan M.;
- Kloosterman, Wigard P.;
- de Ridder, Jeroen
Publication type:
Article
Recurrent integration of human papillomavirus genomes at transcriptional regulatory hubs.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00264-y
By:
- Warburton, Alix;
- Markowitz, Tovah E.;
- Katz, Joshua P.;
- Pipas, James M.;
- McBride, Alison A.
Publication type:
Article
Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00262-0
By:
- Zhang, Liutao;
- Yu, Miao;
- Sun, Kai;
- Fan, Zhuangzhuang;
- Liu, Haochen;
- Feng, Hailan;
- Liu, Yang;
- Han, Dong
Publication type:
Article
The diagnostic trajectory of infants and children with clinical features of genetic disease.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00260-2
By:
- Schroeder, Brock E.;
- Gonzaludo, Nina;
- Everson, Katie;
- Than, Kyi-Sin;
- Sullivan, Jeff;
- Taft, Ryan J.;
- Belmont, John W.
Publication type:
Article
Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
Published in:
2021
By:
- Levy, Michael A.;
- Beck, David B.;
- Metcalfe, Kay;
- Douzgou, Sofia;
- Sithambaram, Sivagamy;
- Cottrell, Trudie;
- Ansar, Muhammad;
- Kerkhof, Jennifer;
- Mignot, Cyril;
- Nougues, Marie-Christine;
- Keren, Boris;
- Moore, Hannah W.;
- Oegema, Renske;
- Giltay, Jacques C.;
- Simon, Marleen;
- van Jaarsveld, Richard H.;
- Bos, Jessica;
- van Haelst, Mieke;
- Motazacker, M. Mahdi;
- Boon, Elles M. J.
Publication type:
Correction Notice
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00268-8
By:
- Okur, Volkan;
- Chen, Zefu;
- Vossaert, Liesbeth;
- Peacock, Sandra;
- Rosenfeld, Jill;
- Zhao, Lina;
- Du, Haowei;
- Calamaro, Emily;
- Gerard, Amanda;
- Zhao, Sen;
- Kelsay, Jill;
- Lahr, Ashley;
- Mighton, Chloe;
- Porter, Hillary M.;
- Siemon, Amy;
- Silver, Josh;
- Svihovec, Shayna;
- Fong, Chin-To;
- Grant, Christina L.;
- Lerner-Ellis, Jordan
Publication type:
Article
Geometric network analysis provides prognostic information in patients with high grade serous carcinoma of the ovary treated with immune checkpoint inhibitors.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00259-9
By:
- Elkin, Rena;
- Oh, Jung Hun;
- Liu, Ying L.;
- Selenica, Pier;
- Weigelt, Britta;
- Reis-Filho, Jorge S.;
- Zamarin, Dmitriy;
- Deasy, Joseph O.;
- Norton, Larry;
- Levine, Arnold J.;
- Tannenbaum, Allen R.
Publication type:
Article
Lamin A/C missense variants: from discovery to functional validation.
Published in:
2021
By:
- Lazarte, Julieta;
- Hegele, Robert A.
Publication type:
Editorial
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00265-x
By:
- Anderson, Corey L.;
- Langer, Emma R.;
- Routes, Timothy C.;
- McWilliams, Seamus F.;
- Bereslavskyy, Igor;
- Kamp, Timothy J.;
- Eckhardt, Lee L.
Publication type:
Article
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00263-z
By:
- Merico, Daniele;
- Pasternak, Yehonatan;
- Zarrei, Mehdi;
- Higginbotham, Edward J.;
- Thiruvahindrapuram, Bhooma;
- Scott, Ori;
- Willett-Pachul, Jessica;
- Grunebaum, Eyal;
- Upton, Julia;
- Atkinson, Adelle;
- Kim, Vy H. D.;
- Aliyev, Elbay;
- Fakhro, Khalid;
- Scherer, Stephen W.;
- Roifman, Chaim M.
Publication type:
Article
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00258-w
By:
- Koster, R.;
- Brandão, R. D.;
- Tserpelis, D.;
- van Roozendaal, C. E. P.;
- van Oosterhoud, C. N.;
- Claes, K. B. M.;
- Paulussen, A. D. C.;
- Sinnema, M.;
- Vreeburg, M.;
- van der Schoot, V.;
- Stumpel, C. T. R. M.;
- Broen, M. P. G.;
- Spruijt, L.;
- Jongmans, M. C. J.;
- Lesnik Oberstein, S. A. J.;
- Plomp, A. S.;
- Misra-Isrie, M.;
- Duijkers, F. A.;
- Louwers, M. J.;
- Szklarczyk, R.
Publication type:
Article
Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00255-z
By:
- Mattioli, Francesca;
- Darvish, Hossein;
- Paracha, Sohail Aziz;
- Tafakhori, Abbas;
- Firouzabadi, Saghar Ghasemi;
- Chapi, Marjan;
- Baig, Hafiz Muhammad Azhar;
- Reymond, Alexandre;
- Antonarakis, Stylianos E.;
- Ansar, Muhammad
Publication type:
Article
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00261-1
By:
- Fadaie, Zeinab;
- Whelan, Laura;
- Ben-Yosef, Tamar;
- Dockery, Adrian;
- Corradi, Zelia;
- Gilissen, Christian;
- Haer-Wigman, Lonneke;
- Corominas, Jordi;
- Astuti, Galuh D. N.;
- de Rooij, Laura;
- van den Born, L. Ingeborgh;
- Klaver, Caroline C. W.;
- Hoyng, Carel B.;
- Wynne, Niamh;
- Duignan, Emma S.;
- Kenna, Paul F.;
- Cremers, Frans P. M.;
- Farrar, G. Jane;
- Roosing, Susanne
Publication type:
Article
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00256-y
By:
- Levy, Michael A.;
- Beck, David B.;
- Metcalfe, Kay;
- Douzgou, Sofia;
- Sithambaram, Sivagamy;
- Cottrell, Trudie;
- Ansar, Muhammad;
- Kerkhof, Jennifer;
- Mignot, Cyril;
- Nougues, Marie-Christine;
- Keren, Boris;
- Moore, Hannah W.;
- Oegema, Renske;
- Giltay, Jacques C.;
- Simon, Marleen;
- van Jaarsveld, Richard H.;
- Bos, Jessica;
- van Haelst, Mieke;
- Motazacker, M. Mahdi;
- Boon, Elles M. J.
Publication type:
Article
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00254-0
By:
- Loureiro, Livia O.;
- Howe, Jennifer L.;
- Reuter, Miriam S.;
- Iaboni, Alana;
- Calli, Kristina;
- Roshandel, Delnaz;
- Pritišanac, Iva;
- Moses, Alan;
- Forman-Kay, Julie D.;
- Trost, Brett;
- Zarrei, Mehdi;
- Rennie, Olivia;
- Lau, Lynette Y. S.;
- Marshall, Christian R.;
- Srivastava, Siddharth;
- Godlewski, Brianna;
- Buttermore, Elizabeth D.;
- Sahin, Mustafa;
- Hartley, Dean;
- Frazier, Thomas
Publication type:
Article
Application of full-genome analysis to diagnose rare monogenic disorders.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00241-5
By:
- Shieh, Joseph T.;
- Penon-Portmann, Monica;
- Wong, Karen H. Y.;
- Levy-Sakin, Michal;
- Verghese, Michelle;
- Slavotinek, Anne;
- Gallagher, Renata C.;
- Mendelsohn, Bryce A.;
- Tenney, Jessica;
- Beleford, Daniah;
- Perry, Hazel;
- Chow, Stephen K.;
- Sharo, Andrew G.;
- Brenner, Steven E.;
- Qi, Zhongxia;
- Yu, Jingwei;
- Klein, Ophir D.;
- Martin, David;
- Kwok, Pui-Yan;
- Boffelli, Dario
Publication type:
Article
Predicting cancer drug TARGETS - TreAtment Response Generalized Elastic-neT Signatures.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00239-z
By:
- Rydzewski, Nicholas R.;
- Peterson, Erik;
- Lang, Joshua M.;
- Yu, Menggang;
- Laura Chang, S.;
- Sjöström, Martin;
- Bakhtiar, Hamza;
- Song, Gefei;
- Helzer, Kyle T.;
- Bootsma, Matthew L.;
- Chen, William S.;
- Shrestha, Raunak M.;
- Zhang, Meng;
- Quigley, David A.;
- Aggarwal, Rahul;
- Small, Eric J.;
- Wahl, Daniel R.;
- Feng, Felix Y.;
- Zhao, Shuang G.
Publication type:
Article
KLF5 activates lncRNA DANCR and inhibits cancer cell autophagy accelerating gastric cancer progression.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00207-7
By:
- Cheng, Zhiyi;
- Liu, Guiyuan;
- Huang, Chuanjiang;
- Zhao, Xiaojun
Publication type:
Article
A novel deep intronic variant strongly associates with Alkaptonuria.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00252-2
By:
- Lai, Chien-Yi;
- Tsai, I-Jung;
- Chiu, Pao-Chin;
- Ascher, David B.;
- Chien, Yin-Hsiu;
- Huang, Yu-Hsuan;
- Lin, Yi-Lin;
- Hwu, Wuh-Liang;
- Lee, Ni-Chung
Publication type:
Article
Author Correction: Loss of grand histone H3 lysine 27 trimethylation domains mediated transcriptional activation in esophageal squamous cell carcinoma.
Published in:
2021
By:
- Yuan, Jian;
- Jiang, Qi;
- Gong, Tongyang;
- Fan, Dandan;
- Zhang, Ji;
- Chen, Fukun;
- Zhu, Xiaolin;
- Wang, Xinyu;
- Qiao, Yunbo;
- Chen, Hongyan;
- Liu, Zhihua;
- Su, Jianzhong
Publication type:
Correction Notice
Underrepresented patient views and perceptions of personalized medication treatment through pharmacogenomics.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00253-1
By:
- Saulsberry, Loren;
- Danahey, Keith;
- Borden, Brittany A.;
- Lipschultz, Elizabeth;
- Traore, Maimouna;
- Ratain, Mark J.;
- Meltzer, David O.;
- O'Donnell, Peter H.
Publication type:
Article
Single-cell RNA sequencing for the identification of early-stage lung cancer biomarkers from circulating blood.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00248-y
By:
- Kim, Jinhong;
- Xu, Zhaolin;
- Marignani, Paola A.
Publication type:
Article
Serum calcium and 25-hydroxyvitamin D in relation to longevity, cardiovascular disease and cancer: a Mendelian randomization study.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00250-4
By:
- Yuan, Shuai;
- Baron, John A.;
- Michaëlsson, Karl;
- Larsson, Susanna C.
Publication type:
Article
Application of full-genome analysis to diagnose rare monogenic disorders.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00241-5
By:
- Shieh, Joseph T.;
- Penon-Portmann, Monica;
- Wong, Karen H. Y.;
- Levy-Sakin, Michal;
- Verghese, Michelle;
- Slavotinek, Anne;
- Gallagher, Renata C.;
- Mendelsohn, Bryce A.;
- Tenney, Jessica;
- Beleford, Daniah;
- Perry, Hazel;
- Chow, Stephen K.;
- Sharo, Andrew G.;
- Brenner, Steven E.;
- Qi, Zhongxia;
- Yu, Jingwei;
- Klein, Ophir D.;
- Martin, David;
- Kwok, Pui-Yan;
- Boffelli, Dario
Publication type:
Article
Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.
Published in:
2021
By:
- Shieh, Joseph T.;
- Penon-Portmann, Monica;
- Wong, Karen H. Y.;
- Levy-Sakin, Michal;
- Verghese, Michelle;
- Slavotinek, Anne;
- Gallagher, Renata C.;
- Mendelsohn, Bryce A.;
- Tenney, Jessica;
- Beleford, Daniah;
- Perry, Hazel;
- Chow, Stephen K.;
- Sharo, Andrew G.;
- Brenner, Steven E.;
- Qi, Zhongxia;
- Yu, Jingwei;
- Klein, Ophir D.;
- Martin, David;
- Kwok, Pui-Yan;
- Boffelli, Dario
Publication type:
Correction Notice
Estimation of cell-free fetal DNA fraction from maternal plasma based on linkage disequilibrium information.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00247-z
By:
- Ju, Jia;
- Li, Jia;
- Liu, Siyang;
- Zhang, Haiqiang;
- Xu, Jinjin;
- Lin, Yu;
- Gao, Ya;
- Zhou, Yulin;
- Jin, Xin
Publication type:
Article
Long-read sequencing reveals the structural complexity of genomic integration of HBV DNA in hepatocellular carcinoma.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00245-1
By:
- Zhuo, Zhongling;
- Rong, Weiqi;
- Li, Hexin;
- Li, Ying;
- Luo, Xuanmei;
- Liu, Ye;
- Tang, Xiaokun;
- Zhang, Lili;
- Su, Fei;
- Cui, Hongyuan;
- Xiao, Fei
Publication type:
Article
Application of full-genome analysis to diagnose rare monogenic disorders.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00241-5
By:
- Shieh, Joseph T.;
- Penon-Portmann, Monica;
- Wong, Karen H. Y.;
- Levy-Sakin, Michal;
- Verghese, Michelle;
- Slavotinek, Anne;
- Gallagher, Renata C.;
- Mendelsohn, Bryce A.;
- Tenney, Jessica;
- Beleford, Daniah;
- Perry, Hazel;
- Chow, Stephen K.;
- Sharo, Andrew G.;
- Brenner, Steven E.;
- Qi, Zhongxia;
- Yu, Jingwei;
- Klein, Ophir D.;
- Martin, David;
- Kwok, Pui-Yan;
- Boffelli, Dario
Publication type:
Article
Multiregional genetic evolution of metastatic uveal melanoma.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00233-5
By:
- Rodriguez, Daniel A.;
- Yang, Jessica;
- Durante, Michael A.;
- Shoushtari, Alexander N.;
- Moschos, Stergios J.;
- Wrzeszczynski, Kazimierz O.;
- Harbour, J. William;
- Carvajal, Richard D.
Publication type:
Article
Immune cell infiltration signatures identified molecular subtypes and underlying mechanisms in gastric cancer.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00249-x
By:
- Lin, Yilin;
- Pan, Xiaoxian;
- Zhao, Long;
- Yang, Changjiang;
- Zhang, Zhen;
- Wang, Bo;
- Gao, Zhidong;
- Jiang, Kewei;
- Ye, Yingjiang;
- Wang, Shan;
- Shen, Zhanlong
Publication type:
Article
Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00246-0
By:
- Tšuiko, Olga;
- Vanneste, Michiel;
- Melotte, Cindy;
- Ding, Jia;
- Debrock, Sophie;
- Masset, Heleen;
- Peters, Maire;
- Salumets, Andres;
- De Leener, Anne;
- Pirard, Céline;
- Kluyskens, Candice;
- Hostens, Katleen;
- van de Vijver, Arne;
- Peeraer, Karen;
- Denayer, Ellen;
- Vermeesch, Joris Robert;
- Dimitriadou, Eftychia
Publication type:
Article
Genomic alterations associated with mutational signatures, DNA damage repair and chromatin remodeling pathways in cervical carcinoma.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00244-2
By:
- Halle, Mari K.;
- Sundaresan, Aishwarya;
- Zhang, Jianqing;
- Pedamallu, Chandra Sekhar;
- Srinivasasainagendra, Vinodh;
- Blair, Jessica;
- Brooke, Dewey;
- Bertelsen, Bjørn I.;
- Woie, Kathrine;
- Shrestha, Sadeep;
- Tiwari, Hemant;
- Wong, Yick Fu;
- Krakstad, Camilla;
- Ojesina, Akinyemi I.
Publication type:
Article
Contribution of rare variant associations to neurodegenerative disease presentation.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00243-3
By:
- Dilliott, Allison A.;
- Abdelhady, Abdalla;
- Sunderland, Kelly M.;
- Farhan, Sali M. K.;
- Abrahao, Agessandro;
- Binns, Malcolm A.;
- Black, Sandra E.;
- Borrie, Michael;
- Casaubon, Leanne K.;
- Dowlatshahi, Dar;
- Finger, Elizabeth;
- Fischer, Corinne E.;
- Frank, Andrew;
- Freedman, Morris;
- Grimes, David;
- Hassan, Ayman;
- Jog, Mandar;
- Kumar, Sanjeev;
- Kwan, Donna;
- Lang, Anthony E.
Publication type:
Article
MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00242-4
By:
- Goldberg, Yael;
- Aleme, Ola;
- Peled-Perets, Lilach;
- Castellvi-Bel, Sergi;
- Nielsen, Maartje;
- Shalev, Stavit A.
Publication type:
Article
Smoking shifts human small airway epithelium club cells toward a lesser differentiated population.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00237-1
By:
- Rostami, Mahboubeh R.;
- LeBlanc, Michelle G.;
- Strulovici-Barel, Yael;
- Zuo, Wulin;
- Mezey, Jason G.;
- O'Beirne, Sarah L.;
- Kaner, Robert J.;
- Leopold, Philip L.;
- Crystal, Ronald G.
Publication type:
Article
Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00230-8
By:
- Yan, Ming-Tso;
- Yang, Sung-Sen;
- Tseng, Min-Hua;
- Cheng, Chih-Jen;
- Tsai, Jeng-Daw;
- Sung, Chih-Chien;
- Hsu, Yu-Juei;
- Lin, Shih-Hua
Publication type:
Article
Queensland Genomics: an adaptive approach for integrating genomics into a public healthcare system.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00234-4
By:
- Vidgen, Miranda E.;
- Williamson, Dayna;
- Cutler, Katrina;
- McCafferty, Claire;
- Ward, Robyn L.;
- McNeil, Keith;
- Waddell, Nicola;
- Bunker, David
Publication type:
Article
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00238-0
By:
- van Eyk, C. L.;
- Webber, D. L.;
- Minoche, A. E.;
- Pérez-Jurado, L. A.;
- Corbett, M. A.;
- Gardner, A. E.;
- Berry, J. G.;
- Harper, K.;
- MacLennan, A. H.;
- Gecz, J.
Publication type:
Article
The role of genetics in neurodegenerative dementia: a large cohort study in South China.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00235-3
By:
- Jiao, Bin;
- Liu, Hui;
- Guo, Lina;
- Xiao, Xuewen;
- Liao, Xinxin;
- Zhou, Yafang;
- Weng, Ling;
- Zhou, Lu;
- Wang, Xin;
- Jiang, Yaling;
- Yang, Qijie;
- Zhu, Yuan;
- Zhou, Lin;
- Zhang, Weiwei;
- Wang, Junling;
- Yan, Xinxiang;
- Li, Jinchen;
- Tang, Beisha;
- Shen, Lu
Publication type:
Article
Behavioral and psychological impact of genome sequencing: a pilot randomized trial of primary care and cardiology patients.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00236-2
By:
- Christensen, Kurt D.;
- Schonman, Erica F.;
- Robinson, Jill O.;
- Roberts, J. Scott;
- Diamond, Pamela M.;
- Lee, Kaitlyn B.;
- Green, Robert C.;
- McGuire, Amy L.
Publication type:
Article
Functional comparison of exome capture-based methods for transcriptomic profiling of formalin-fixed paraffin-embedded tumors.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00231-7
By:
- Shohdy, Kyrillus S.;
- Bareja, Rohan;
- Sigouros, Michael;
- Wilkes, David C.;
- Dorsaint, Princesca;
- Manohar, Jyothi;
- Bockelman, Daniel;
- Xiang, Jenny Z.;
- Kim, Rob;
- Ohara, Kentaro;
- Eng, Kenneth;
- Mosquera, Juan Miguel;
- Elemento, Olivier;
- Sboner, Andrea;
- Alonso, Alicia;
- Faltas, Bishoy M.
Publication type:
Article
Loss of grand histone H3 lysine 27 trimethylation domains mediated transcriptional activation in esophageal squamous cell carcinoma.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00232-6
By:
- Yuan, Jian;
- Jiang, Qi;
- Gong, Tongyang;
- Fan, Dandan;
- Zhang, Ji;
- Chen, Fukun;
- Zhu, Xiaolin;
- Wang, Xinyu;
- Qiao, Yunbo;
- Chen, Hongyan;
- Liu, Zhihua;
- Su, Jianzhong
Publication type:
Article
Estimating the predictive power of silent mutations on cancer classification and prognosis.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00229-1
By:
- Gutman, Tal;
- Goren, Guy;
- Efroni, Omri;
- Tuller, Tamir
Publication type:
Article
Association between genes regulating neural pathways for quantitative traits of speech and language disorders.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00225-5
By:
- Benchek, Penelope;
- Igo, Robert P.;
- Voss-Hoynes, Heather;
- Wren, Yvonne;
- Miller, Gabrielle;
- Truitt, Barbara;
- Zhang, Wen;
- Osterman, Michael;
- Freebairn, Lisa;
- Tag, Jessica;
- Taylor, H. Gerry;
- Chan, E. Ricky;
- Roussos, Panos;
- Lewis, Barbara;
- Stein, Catherine M.;
- Iyengar, Sudha K.
Publication type:
Article
Incidental findings from cancer next generation sequencing panels.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00224-6
By:
- Maani, Nika;
- Panabaker, Karen;
- McCuaig, Jeanna M.;
- Buckley, Kathleen;
- Semotiuk, Kara;
- Farncombe, Kirsten M.;
- Ainsworth, Peter;
- Panchal, Seema;
- Sadikovic, Bekim;
- Armel, Susan Randall;
- Lin, Hanxin;
- Kim, Raymond H.
Publication type:
Article
Molecular classification of blood and bleeding disorder genes.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00228-2
By:
- Baz, Batoul;
- Abouelhoda, Mohamed;
- Owaidah, Tarek;
- Dasouki, Majed;
- Monies, Dorota;
- Al Tassan, Nada
Publication type:
Article
Genome-wide discovery of hidden genes mediating known drug-disease association using KDDANet.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00216-6
By:
- Yu, Hua;
- Lu, Lu;
- Chen, Ming;
- Li, Chen;
- Zhang, Jin
Publication type:
Article
Effective variant filtering and expected candidate variant yield in studies of rare human disease.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00227-3
By:
- Pedersen, Brent S.;
- Brown, Joe M.;
- Dashnow, Harriet;
- Wallace, Amelia D.;
- Velinder, Matt;
- Tristani-Firouzi, Martin;
- Schiffman, Joshua D.;
- Tvrdik, Tatiana;
- Mao, Rong;
- Best, D. Hunter;
- Bayrak-Toydemir, Pinar;
- Quinlan, Aaron R.
Publication type:
Article

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