Volume 4; Issue 1

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npj Genomic Medicine
Volume 4; Issue 1

npj Genomic Medicine

Volume 4; Issue 1

1

Both rare and common genetic variants contribute to autism in the Faroe Islands

Leblond, Claire S, Cliquet, Freddy, Carton, Coralie, Huguet, Guillaume, Mathieu, Alexandre, Kergrohen, Thomas, Buratti, Julien, Lemière, Nathalie, Cuisset, Laurence, Bienvenu, Thierry, Boland, Anne, D

Journal:

npj Genomic Medicine

Year:

2019

File:

PDF, 2.19 MB

2019

2

Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients

Owaidah, Tarek, Saleh, Mahasen, Baz, Batoul, Abdulaziz, Basma, Alzahrani, Hazza, Tarawah, Ahmed, Almusa, Abdulrahman, AlNounou, Randa, AbaAlkhail, Hala, Al-Numair, Nouf, Altahan, Rahaf, Abouelhoda, Mo

Journal:

npj Genomic Medicine

Year:

2019

File:

PDF, 645 KB

2019

3

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

Scocchia, Alicia, Wigby, Kristen M., Masser-Frye, Diane, Del Campo, Miguel, Galarreta, Carolina I., Thorpe, Erin, McEachern, Julia, Robinson, Keisha, Gross, Andrew, Ajay, Subramanian S., Rajan, Vani,

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 773 KB

english, 2019

4

A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR

Safarova, Maya S., Satterfield, Benjamin A., Fan, Xiao, Austin, Erin E., Ye, Zhan, Bastarache, Lisa, Zheng, Neil, Ritchie, Marylyn D., Borthwick, Kenneth M., Williams, Marc S., Larson, Eric B., Scrol,

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 809 KB

english, 2019

5

Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients

Owaidah, Tarek, Saleh, Mahasen, Baz, Batoul, Abdulaziz, Basma, Alzahrani, Hazza, Tarawah, Ahmed, Almusa, Abdulrahman, AlNounou, Randa, AbaAlkhail, Hala, Al-Numair, Nouf, Altahan, Rahaf, Abouelhoda, Mo

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 645 KB

english, 2019

6

Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality

Dawes, Ruebena, Lek, Monkol, Cooper, Sandra T.

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 1.57 MB

english, 2019

7

RNA sequencing identifies clonal structure of T-cell repertoires in patients with adult T-cell leukemia/lymphoma

Farmanbar, Amir, Kneller, Robert, Firouzi, Sanaz

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 2.77 MB

english, 2019

8

RNA sequencing identifies clonal structure of T-cell repertoires in patients with adult T-cell leukemia/lymphoma

Farmanbar, Amir, Kneller, Robert, Firouzi, Sanaz

Journal:

npj Genomic Medicine

Year:

2019

File:

PDF, 2.77 MB

2019

9

Implementation of genomics in medical practice to deliver precision medicine for an Asian population

Bylstra, Yasmin, Davila, Sonia, Lim, Weng Khong, Wu, Ryanne, Teo, Jing Xian, Kam, Sylvia, Lysaght, Tamra, Rozen, Steve, Teh, Bin Tean, Yeo, Khung Keong, Cook, Stuart A., Tan, Patrick, Jamuar, Saumya S

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 1.18 MB

english, 2019

10

Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

Corbett, Mark A., van Eyk, Clare L., Webber, Dani L., Bent, Stephen J., Newman, Morgan, Harper, Kelly, Berry, Jesia G., Azmanov, Dimitar N., Woodward, Karen J., Gardner, Alison E., Slee, Jennie, Pérez

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 353 KB

english, 2019

11

High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer

Bertelsen, Birgitte, Tuxen, Ida Viller, Yde, Christina Westmose, Gabrielaite, Migle, Torp, Mathias Husted, Kinalis, Savvas, Oestrup, Olga, Rohrberg, Kristoffer, Spangaard, Iben, Santoni-Rugiu, Eric, W

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 1.79 MB

english, 2019

12

Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease

Keskitalo, Salla, Haapaniemi, Emma M., Glumoff, Virpi, Liu, Xiaonan, Lehtinen, Ville, Fogarty, Christopher, Rajala, Hanna, Chiang, Samuel C., Mustjoki, Satu, Kovanen, Panu, Lohi, Jouko, Bryceson, Yena

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 781 KB

english, 2019

13

Fetal sex determination in twin pregnancies using non-invasive prenatal testing

Villela, Darine, Che, Huiwen, Van Ghelue, Marijke, Dehaspe, Luc, Brison, Nathalie, Van Den Bogaert, Kris, Devriendt, Koen, Lewi, Liesbeth, Bayindir, Baran, Vermeesch, Joris Robert

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 1.17 MB

english, 2019

14

Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease

Keskitalo, Salla, Haapaniemi, Emma M., Glumoff, Virpi, Liu, Xiaonan, Lehtinen, Ville, Fogarty, Christopher, Rajala, Hanna, Chiang, Samuel C., Mustjoki, Satu, Kovanen, Panu, Lohi, Jouko, Bryceson, Yena

Journal:

npj Genomic Medicine

Year:

2019

File:

PDF, 781 KB

2019

15

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

Yu, Mullin Ho-Chung, Tsang, Mandy Ho-Yin, Lai, Sophie, Ho, Matthew Sai-Pong, Tse, Donald M. L., Willis, Brooke, Kwong, Anna Ka-Yee, Chou, Yen-Yin, Lin, Shuan-Pei, Quinzii, Catarina M, Hwu, Wuh-Liang,

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 1.45 MB

english, 2019

16

Author Correction: 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:

2019

Language:

english

File:

PDF, 334 KB

english, 2019

17

Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome

Sarret, Catherine, Ashkavand, Zahra, Paules, Evan, Dorboz, Imen, Pediaditakis, Peter, Sumner, Susan, Eymard-Pierre, Eléonore, Francannet, Christine, Krupenko, Natalia I., Boespflug-Tanguy, Odile, Krup

Journal:

npj Genomic Medicine

Year:

2019

File:

PDF, 2.37 MB

2019

18

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

Feliciano, Pamela, Zhou, Xueya, Astrovskaya, Irina, Turner, Tychele N., Wang, Tianyun, Brueggeman, Leo, Barnard, Rebecca, Hsieh, Alexander, Snyder, LeeAnne Green, Muzny, Donna M., Sabo, Aniko, Gibbs,

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 1.40 MB

english, 2019

19

Genome-wide association study for proliferative diabetic retinopathy in Africans

Liu, Chang, Chen, Guanjie, Bentley, Amy R., Doumatey, Ayo, Zhou, Jie, Adeyemo, Adebowale, Yang, Jinkui, Rotimi, Charles

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 1.17 MB

english, 2019

20

Largescale population genomics versus deep phenotyping: Brute force or elegant pragmatism towards precision medicine

Yehia, Lamis, Eng, Charis

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 352 KB

english, 2019

21

Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records

Sugunaraj, J. P., Brosius, H. M., Murray, M. F., Manickam, K., Stamm, J. A., Carey, D. J., Mirshahi, U. L.

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 655 KB

english, 2019

22

Impact of free cancer predisposition cascade genetic testing on uptake in Singapore

Courtney, Eliza, Chok, Amanda Kay-Lyn, Ting Ang, Zoe Li, Shaw, Tarryn, Li, Shao-Tzu, Yuen, Jeanette, Ngeow, Joanne

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 575 KB

english, 2019

23

A Mendelian randomization study of IL6 signaling in cardiovascular diseases, immune-related disorders and longevity

Rosa, Mickael, Chignon, Arnaud, Li, Zhonglin, Boulanger, Marie-Chloé, Arsenault, Benoit J., Bossé, Yohan, Thériault, Sébastien, Mathieu, Patrick

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 1.96 MB

english, 2019

24

Largescale population genomics versus deep phenotyping: Brute force or elegant pragmatism towards precision medicine

Yehia, Lamis, Eng, Charis

Journal:

npj Genomic Medicine

Year:

2019

File:

PDF, 352 KB

2019

25

Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records

Sugunaraj, J. P., Brosius, H. M., Murray, M. F., Manickam, K., Stamm, J. A., Carey, D. J., Mirshahi, U. L.

Journal:

npj Genomic Medicine

Year:

2019

File:

PDF, 655 KB

2019

26

Impact of free cancer predisposition cascade genetic testing on uptake in Singapore

Courtney, Eliza, Chok, Amanda Kay-Lyn, Ting Ang, Zoe Li, Shaw, Tarryn, Li, Shao-Tzu, Yuen, Jeanette, Ngeow, Joanne

Journal:

npj Genomic Medicine

Year:

2019

File:

PDF, 575 KB

2019

27

A large data resource of genomic copy number variation across neurodevelopmental disorders

Zarrei, Mehdi, Burton, Christie L., Engchuan, Worrawat, Young, Edwin J., Higginbotham, Edward J., MacDonald, Jeffrey R., Trost, Brett, Chan, Ada J. S., Walker, Susan, Lamoureux, Sylvia, Heung, Tracy,

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 1.03 MB

english, 2019

28

A Mendelian randomization study of IL6 signaling in cardiovascular diseases, immune-related disorders and longevity

Rosa, Mickael, Chignon, Arnaud, Li, Zhonglin, Boulanger, Marie-Chloé, Arsenault, Benoit J., Bossé, Yohan, Thériault, Sébastien, Mathieu, Patrick

Journal:

npj Genomic Medicine

Year:

2019

File:

PDF, 1.96 MB

2019

29

Can one overcome “unhealthy genes”?

Lazarte, Julieta, Hegele, Robert A.

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 355 KB

english, 2019

30

Tracking human genes along the translational continuum

Lee, Kyubum, Clyne, Mindy, Yu, Wei, Lu, Zhiyong, Khoury, Muin J.

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 445 KB

english, 2019

31

Targeted resequencing identifies genes with recurrent variation in cerebral palsy

van Eyk, C. L., Corbett, M. A., Frank, M. S. B., Webber, D. L., Newman, M., Berry, J. G., Harper, K., Haines, B. P., McMichael, G., Woenig, J. A., MacLennan, A. H., Gecz, J.

Journal:

npj Genomic Medicine

Year:

2019

File:

PDF, 1.38 MB

2019

32

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Steward, Charles A., Roovers, Jolien, Suner, Marie-Marthe, Gonzalez, Jose M., Uszczynska-Ratajczak, Barbara, Pervouchine, Dmitri, Fitzgerald, Stephen, Viola, Margarida, Stamberger, Hannah, Hamdan, Fad

Journal:

npj Genomic Medicine

Year:

2019

File:

PDF, 1.34 MB

2019

33

Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels

Lauhasurayotin, Supanun, Cuvelier, Geoff D., Klaassen, Robert J., Fernandez, Conrad V., Pastore, Yves D., Abish, Sharon, Rayar, Meera, Steele, MacGregor, Jardine, Lawrence, Breakey, Vicky R., Brossard

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 3.40 MB

english, 2019

34

FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation

Milko, Laura V., Chen, Flavia, Chan, Kee, Brower, Amy M., Agrawal, Pankaj B., Beggs, Alan H., Berg, Jonathan S., Brenner, Steven E., Holm, Ingrid A., Koenig, Barbara A., Parad, Richard B., Powell, Cyn

Journal:

npj Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 826 KB

english, 2019