Works matching IS 20567944 AND DT 2017 AND VI 2 AND IP 1

Results: 38

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0006-7

By:

Schofield, Deborah;
Alam, Khurshid;
Douglas, Lyndal;
Shrestha, Rupendra;
MacArthur, Daniel G.;
Davis, Mark;
Laing, Nigel G.;
Clarke, Nigel F.;
Burns, Joshua;
Cooper, Sandra T.;
North, Kathryn N.;
Sandaradura, Sarah A.;
O'Grady, Gina L.

Publication type:

Article

Familial STAG2 germline mutation defines a new human cohesinopathy.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0009-4

By:

Soardi, Fernanda C.;
Machado-Silva, Alice;
Linhares, Natália D.;
Zheng, Ge;
Qu, Qianhui;
Pena, Heloísa B.;
Martins, Thaís M. M.;
Vieira, Helaine G. S.;
Pereira, Núbia B.;
Melo-Minardi, Raquel C.;
Gomes, Carolina C.;
Gomez, Ricardo S.;
Gomes, Dawidson A.;
Pires, Douglas E. V.;
Ascher, David B.;
Yu, Hongtao;
Pena, Sérgio D. J.

Publication type:

Article

A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0008-5

By:

Mobuchon, Lenha;
Battistella, Aude;
Bardel, Claire;
Scelo, Ghislaine;
Renoud, Alexia;
Houy, Alexandre;
Cassoux, Nathalie;
Milder, Maud;
Cancel-Tassin, Géraldine;
Cussenot, Olivier;
Delattre, Olivier;
Besse, Céline;
Boland, Anne;
Deleuze, Jean-François;
Cox, David G.;
Stern, Marc-Henri

Publication type:

Article

Base resolution maps reveal the importance of 5-hydroxymethylcytosine in a human glioblastoma.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0007-6

By:

Raiber, Eun-Ang;
Beraldi, Dario;
Martínez Cuesta, Sergio;
McInroy, Gordon R.;
Kingsbury, Zoya;
Becq, Jennifer;
James, Terena;
Lopes, Margarida;
Allinson, Kieren;
Field, Sarah;
Humphray, Sean;
Santarius, Thomas;
Watts, Colin;
Bentley, David;
Balasubramanian, Shankar

Publication type:

Article

Germline TTN variants are enriched in PTEN-wildtype Bannayan–Riley–Ruvalcaba syndrome.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0039-y

By:

Yehia, Lamis;
Ni, Ying;
Eng, Charis

Publication type:

Article

Circular RNA expression is abundant and correlated to aggressiveness in early-stage bladder cancer.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0038-z

By:

Okholm, Trine Line Hauge;
Nielsen, Morten Muhlig;
Hamilton, Mark P.;
Christensen, Lise-Lotte;
Vang, Søren;
Hedegaard, Jakob;
Hansen, Thomas Birkballe;
Kjems, Jørgen;
Dyrskjøt, Lars;
Pedersen, Jakob Skou

Publication type:

Article

Prioritising the application of genomic medicine.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0037-0

By:

Doble, Brett;
Schofield, Deborah J.;
Roscioli, Tony;
Mattick, John S.

Publication type:

Article

A community effort to protect genomic data sharing, collaboration and outsourcing.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0036-1

By:

Wang, Shuang;
Jiang, Xiaoqian;
Tang, Haixu;
Wang, Xiaofeng;
Bu, Diyue;
Carey, Knox;
Dyke, Stephanie OM;
Fox, Dov;
Jiang, Chao;
Lauter, Kristin;
Malin, Bradley;
Sofia, Heidi;
Telenti, Amalio;
Wang, Lei;
Wang, Wenhao;
Ohno-Machado, Lucila

Publication type:

Article

Characterisation of the changing genomic landscape of metastatic melanoma using cell free DNA.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0030-7

By:

Cutts, Anthony;
Venn, Oliver;
Dilthey, Alexander;
Gupta, Avinash;
Vavoulis, Dimitris;
Dreau, Helene;
Middleton, Mark;
McVean, Gil;
Taylor, Jenny C.;
Schuh, Anna

Publication type:

Article

Erratum: Regulation of cancer epigenomes with a histonebinding synthetic transcription factor.

Published in:

2017

By:

Nyer, David B.;
Daer, Rene M.;
Vargas, Daniel;
Hom, Caroline;
Haynes, Karmella A.

Publication type:

Correction Notice

Myeloablation-associated deletion of ORF4 in a human coronavirus 229E infection.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0033-4

By:

Greninger, Alexander L.;
Pepper, Gregory;
Shean, Ryan C.;
Cent, Anne;
Palileo, Isabel;
Kuypers, Jane M.;
Schiffer, Joshua T.;
Jerome, Keith R.

Publication type:

Article

Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0032-5

By:

Madubata, Chioma J;
Roshan-Ghias, Alireza;
Chu, Timothy;
Resnick, Samuel;
Zhao, Junfei;
Arnes, Luis;
Wang, Jiguang;
Rabadan, Raul

Publication type:

Article

To the editor.

Published in:

2017

By:

Kebebew, Electron;
Kumar Gara, Sudheer

Publication type:

Letter

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2

By:

Tabet, Anne-Claude;
Rolland, Thomas;
Ducloy, Marie;
Lévy, Jonathan;
Buratti, Julien;
Mathieu, Alexandre;
Haye, Damien;
Perrin, Laurence;
Dupont, Céline;
Passemard, Sandrine;
Capri, Yline;
Verloes, Alain;
Drunat, Séverine;
Keren, Boris;
Mignot, Cyril;
Marey, Isabelle;
Jacquette, Aurélia;
Whalen, Sandra;
Pipiras, Eva;
Benzacken, Brigitte

Publication type:

Article

Workflow optimization of whole genome amplification and targeted panel sequencing for CTC mutation detection.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0034-3

By:

Liu, Haiyan E.;
Triboulet, Melanie;
Zia, Amin;
Vuppalapaty, Meghah;
Kidess-Sigal, Evelyn;
Coller, John;
Natu, Vanita S.;
Shokoohi, Vida;
Che, James;
Renier, Corinne;
Chan, Natalie H.;
Hanft, Violet R.;
Jeffrey, Stefanie S.;
Sollier-Christen, Elodie

Publication type:

Article

Erratum: Preparing for genomic medicine: a real world demonstration of health system change.

Published in:

2017

By:

Gaff, Clara L.;
M. Winship, Ingrid;
M. Forrest, Susan;
P. Hansen, David;
Clark, Julian;
M. Waring, Paul;
South, Mike;
H. Sinclair, Andrew

Publication type:

Correction Notice

Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0027-2

By:

Olafsson, Sigurgeir;
Stridh, Pernilla;
Bos, Steffan Daniël;
Ingason, Andres;
Euesden, Jack;
Sulem, Patrick;
Thorleifsson, Gudmar;
Gustafsson, Omar;
Johannesson, Ari;
Geirsson, Arni J.;
Thorsson, Arni V.;
Sigurgeirsson, Bardur;
Ludviksson, Bjorn Runar;
Olafsson, Elias;
Kristjansdottir, Helga;
Jonasson, Jon G.;
Olafsson, Jon Hjaltalin;
Orvar, Kjartan B.;
Benediktsson, Rafn;
Bjarnason, Ragnar

Publication type:

Article

Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0031-6

By:

Dale, Breanne;
Modi, Bonnie MacKinnon;
Jilderda, Sanne;
McConnell, Beth;
Hoang, Ny;
Swaroop, Pooja;
Falcon, Jhoan;
Thiruvahindrapuram, Bhooma;
Walker, Susan;
Scherer, Stephen W.;
Stavropoulos, D. James;
Drmic, Irene E.;
Carter, Melissa T.

Publication type:

Article

Mosaic mutations in blood DNA sequence are associated with solid tumor cancers.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0025-4

By:

Artomov, Mykyta;
Rivas, Manuel A.;
Genovese, Giulio;
Daly, Mark J.

Publication type:

Article

A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0024-5

By:

Dinur Schejter, Yael;
Ovadia, Adi;
Alexandrova, Roumiana;
Thiruvahindrapuram, Bhooma;
Pereira, Sergio L.;
Manson, David E.;
Vincent, Ajoy;
Merico, Daniele;
Roifman, Chaim M.

Publication type:

Article

Erratum: Genomic landscape of high-grade meningiomas.

Published in:

2017

By:

Bi, Wenya Linda;
Greenwald, Noah F.;
Abedalthagafi, Malak;
Wala, Jeremiah;
Gibson, Will J.;
Agarwalla, Pankaj K.;
Horowitz, Peleg;
Schumacher, Steven E.;
Esaulova, Ekaterina;
Mei, Yu;
Chevalier, Aaron;
A. Ducar, Matthew;
Thorner, Aaron R.;
van Hummelen, Paul;
O. Stemmer-Rachamimov, Anat;
Artyomov, Maksym;
Al-Mefty, Ossama;
Dunn, Gavin P.;
Santagata, Sandro;
Dunn, Ian F.

Publication type:

Correction Notice

Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0022-7

By:

Darvish, Hossein;
Azcona, Luis J.;
Tafakhori, Abbas;
Ahmadi, Mona;
Ahmadifard, Azadeh;
Paisán-Ruiz, Coro

Publication type:

Article

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0021-8

By:

Cohn, Iris;
Paton, Tara A.;
Marshall, Christian R.;
Basran, Raveen;
Stavropoulos, Dimitri J.;
Ray, Peter N.;
Monfared, Nasim;
Hayeems, Robin Z.;
Meyn, M. Stephen;
Bowdin, Sarah;
Scherer, Stephen W.;
Cohn, Ronald D.;
Ito, Shinya

Publication type:

Article

Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0020-9

By:

Woodbury-Smith, Marc;
Nicolson, Rob;
Zarrei, Mehdi;
Yuen, Ryan K. C.;
Walker, Susan;
Howe, Jennifer;
Uddin, Mohammed;
Hoang, Ny;
Buchanan, Janet A.;
Chrysler, Christina;
Thompson, Ann;
Szatmari, Peter;
Scherer, Stephen W.

Publication type:

Article

The clinical impact of copy number variants in inherited bone marrow failure syndromes.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0019-2

By:

Waespe, Nicolas;
Dhanraj, Santhosh;
Wahala, Manju;
Tsangaris, Elena;
Enbar, Tom;
Zlateska, Bozana;
Li, Hongbing;
Klaassen, Robert J.;
Fernandez, Conrad V.;
Cuvelier, Geoff D. E.;
Wu, John K.;
Pastore, Yves D.;
Silva, Mariana;
Lipton, Jeffrey H.;
Brossard, Joseé;
Michon, Bruno;
Abish, Sharon;
Steele, MacGregor;
Sinha, Roona;
Belletrutti, Mark J.

Publication type:

Article

Mining the transcriptome for rare disease therapies: a comparison of the efficiencies of two data mining approaches and a targeted cell-based drug screen.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0018-3

By:

Mears, A. J.;
Schock, S. C.;
Hadwen, J.;
Putos, S.;
Dyment, D.;
Boycott, K. M.;
MacKenzie, Alex

Publication type:

Article

Empirical comparison of reduced representation bisulfite sequencing and Infinium BeadChip reproducibility and coverage of DNA methylation in humans.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0012-9

By:

Carmona, Juan J.;
Accomando, William P.;
Binder, Alexandra M.;
Hutchinson, John N.;
Pantano, Lorena;
Izzi, Benedetta;
Just, Allan C.;
Lin, Xihong;
Schwartz, Joel;
Vokonas, Pantel S.;
Amr, Sami S.;
Baccarelli, Andrea A.;
Michels, Karin B.

Publication type:

Article

Genome-wide identification of inter-individually variable DNA methylation sites improves the efficacy of epigenetic association studies.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0016-5

By:

Hachiya, Tsuyoshi;
Furukawa, Ryohei;
Shiwa, Yuh;
Ohmomo, Hideki;
Ono, Kanako;
Katsuoka, Fumiki;
Nagasaki, Masao;
Yasuda, Jun;
Fuse, Nobuo;
Kinoshita, Kengo;
Yamamoto, Masayuki;
Tanno, Kozo;
Satoh, Mamoru;
Endo, Ryujin;
Sasaki, Makoto;
Sakata, Kiyomi;
Kobayashi, Seiichiro;
Ogasawara, Kuniaki;
Hitomi, Jiro;
Sobue, Kenji

Publication type:

Article

Phenotypic profiling of CFTR modulators in patient-derived respiratory epithelia.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0015-6

By:

Ahmadi, Saumel;
Bozoky, Zoltan;
Di Paola, Michelle;
Xia, Sunny;
Li, Canhui;
Wong, Amy P.;
Wellhauser, Leigh;
Molinski, Steven V.;
Ip, Wan;
Ouyang, Hong;
Avolio, Julie;
Forman-Kay, Julie D.;
Ratjen, Felix;
Hirota, Jeremy A.;
Rommens, Johanna;
Rossant, Janet;
Gonska, Tanja;
Moraes, Theo J.;
Bear, Christine E.

Publication type:

Article

Genomic landscape of high-grade meningiomas.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0014-7

By:

Bi, Wenya Linda;
Greenwald, Noah F.;
Abedalthagafi, Malak;
Wala, Jeremiah;
Gibson, Will J.;
Agarwalla, Pankaj K.;
Horowitz, Peleg;
Schumacher, Steven E.;
Esaulova, Ekaterina;
Mei, Yu;
Chevalier, Aaron;
A. Ducar, Matthew;
Thorner, Aaron R.;
van Hummelen, Paul;
O. Stemmer-Rachamimov, Anat;
Artyomov, Maksym;
Al-Mefty, Ossama;
Dunn, Gavin P.;
Santagata, Sandro;
Dunn, Ian F.

Publication type:

Article

Genomic and immune heterogeneity are associated with differential responses to therapy in melanoma.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0013-8

By:

Reuben, Alexandre;
Spencer, Christine N.;
Prieto, Peter A.;
Gopalakrishnan, Vancheswaran;
Reddy, Sangeetha M.;
Miller, John P.;
Mao, Xizeng;
De Macedo, Mariana Petaccia;
Chen, Jiong;
Song, Xingzhi;
Jiang, Hong;
Chen, Pei-Ling;
Beird, Hannah C.;
Garber, Haven R.;
Roh, Whijae;
Wani, Khalida;
Chen, Eveline;
Haymaker, Cara;
Forget, Marie-Andrée;
Little, Latasha D.

Publication type:

Article

Preparing for genomic medicine: a real world demonstration of health system change.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0017-4

By:

Gaff, Clara L.;
M. Winship, Ingrid;
M. Forrest, Susan;
P. Hansen, David;
Clark, Julian;
M. Waring, Paul;
South, Mike;
H. Sinclair, Andrew

Publication type:

Article

Pitfalls of exome sequencing: a case study of the attribution of HABP2 rs7080536 in familial non-medullary thyroid cancer.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0011-x

By:

Gerhard, Glenn S.;
Bann, Darrin V.;
Broach, James;
Goldenberg, David

Publication type:

Article

Chromatin marks shape mutation landscape at early stage of cancer progression.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0010-y

By:

Ha, Kyungsik;
Kim, Hong-Gee;
Lee, Hwajin

Publication type:

Article

Precision Military Medicine: Conducting a multi-site clinical utility study of genomic and lifestyle risk factors in the United States Air Force.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-016-0004-1

By:

Delaney, Susan K.;
Brenner, Ruth;
Schmidlen, Tara J.;
Dempsey, Michael P.;
London, Kim E.;
Gordon, Erynn S.;
Bellafante, Mark;
Nasuti, Ashley;
Scheinfeldt, Laura B.;
Rajula, Kaveri D.;
Jose, Leo;
Jarvis, Joseph P.;
Gerry, Norman P.;
Christman, Michael F.

Publication type:

Article

Regulation of cancer epigenomes with a histone-binding synthetic transcription factor.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-016-0002-3

By:

Nyer, David B.;
Daer, Rene M.;
Vargas, Daniel;
Hom, Caroline;
Haynes, Karmella A.

Publication type:

Article

Relation between NOD2 genotype and changes in innate signaling in Crohn's disease on mRNA and miRNA levels.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-016-0001-4

By:

Chen, Yun;
Salem, Mohammad;
Boyd, Mette;
Bornholdt, Jette;
Li, Yuan;
Coskun, Mehmet;
Seidelin, Jakob Benedict;
Sandelin, Albin;
Nielsen, Ole Haagen

Publication type:

Article

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2

By:

Tabet, Anne-Claude;
Rolland, Thomas;
Ducloy, Marie;
Lévy, Jonathan;
Buratti, Julien;
Mathieu, Alexandre;
Haye, Damien;
Perrin, Laurence;
Dupont, Céline;
Passemard, Sandrine;
Capri, Yline;
Verloes, Alain;
Drunat, Séverine;
Keren, Boris;
Mignot, Cyril;
Marey, Isabelle;
Jacquette, Aurélia;
Whalen, Sandra;
Pipiras, Eva;
Benzacken, Brigitte

Publication type:

Article