Volume 2; Issue 1

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npj Genomic Medicine
Volume 2; Issue 1

npj Genomic Medicine

Volume 2; Issue 1

1

Familial STAG2 germline mutation defines a new human cohesinopathy

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., Gome

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 3.97 MB

english, 2017

2

Chromatin marks shape mutation landscape at early stage of cancer progression

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

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 1.51 MB

english, 2017

3

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

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, Ji

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 2.47 MB

english, 2017

4

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

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

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 728 KB

english, 2017

5

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

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., Bac

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 1.74 MB

english, 2017

6

Genomic landscape of high-grade meningiomas

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

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 3.30 MB

english, 2017

7

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

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

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 607 KB

english, 2017

8

Phenotypic profiling of CFTR modulators in patient-derived respiratory epithelia

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, Fe

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 1.44 MB

english, 2017

9

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

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., C

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 741 KB

english, 2017

10

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

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., Sand

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 909 KB

english, 2017

11

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

Mobuchon, Lenha, Battistella, Aude, Bardel, Claire, Scelo, Ghislaine, Renoud, Alexia, Houy, Alexandre, Cassoux, Nathalie, Milder, Maud, Cancel-Tassin, Géraldine, Cussenot, Olivier, Delattre, Olivier,

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 851 KB

english, 2017

12

To the editor

Kebebew, Electron, Kumar Gara, Sudheer

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 312 KB

english, 2017

13

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

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

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 506 KB

english, 2017

14

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

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

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 2.61 MB

english, 2017

15

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

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

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 641 KB

english, 2017

16

Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences

Twist, Greyson P, Gaedigk, Andrea, Miller, Neil A, Farrow, Emily G, Willig, Laurel K, Dinwiddie, Darrell L, Petrikin, Josh E, Soden, Sarah E, Herd, Suzanne, Gibson, Margaret, Cakici, Julie A, Riffel,

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 183 KB

english, 2017

17

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

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

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 1.80 MB

english, 2017

18

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

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, Santariu

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 1.65 MB

english, 2017

19

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

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, Mam

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 3.01 MB

english, 2017

20

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

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

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 2.05 MB

english, 2017

21

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

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, Jarv

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 376 KB

english, 2017

22

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

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

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 387 KB

english, 2017

23

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

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

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 409 KB

english, 2017

24

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

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.

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 3.24 MB

english, 2017

25

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

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

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 594 KB

english, 2017

26

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

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

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 653 KB

english, 2017

27

Prioritising the application of genomic medicine

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

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 593 KB

english, 2017

28

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

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 Sk

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 1.68 MB

english, 2017

29

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

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

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 6.90 MB

english, 2017

30

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

Tabet, Anne-Claude, Rolland, Thomas, Ducloy, Marie, Lévy, Jonathan, Buratti, Julien, Mathieu, Alexandre, Haye, Damien, Perrin, Laurence, Dupont, Céline, Passemard, Sandrine, Capri, Yline, Verloes, Ala

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 1.47 MB

english, 2017

31

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

Yehia, Lamis, Ni, Ying, Eng, Charis

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 1.14 MB

english, 2017

32

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

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

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 183 KB

english, 2017

33

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

Dale, Breanne, Modi, Bonnie MacKinnon, Jilderda, Sanne, McConnell, Beth, Hoang, Ny, Swaroop, Pooja, Falcon, Jhoan, Thiruvahindrapuram, Bhooma, Walker, Susan, Scherer, Stephen W., Stavropoulos, D. Jame

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 520 KB

english, 2017