Volume 11; Issue 1

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Human Genomics
Volume 11; Issue 1

Human Genomics

Volume 11; Issue 1

1

Copy number variation of humanAMY1is a minor contributor to variation in salivary amylase expression and activity

Carpenter, Danielle, Mitchell, Laura M., Armour, John A. L.

Journal:

Year:

2017

Language:

english

File:

PDF, 465 KB

english, 2017

2

Transcriptome analysis of bronchoalveolar lavage fluid from children with severeMycoplasma pneumoniaepneumonia reveals novel gene expression and immunodeficiency

Wang, Kuo, Gao, Man, Yang, Mingyue, Meng, Fanzheng, Li, Deli, Lu, Ruihua, Wang, Yan, Zhuang, Huadong, Li, Mengyao, Cheng, Genhong, Wang, Xiaosong

Journal:

Year:

2017

Language:

english

File:

PDF, 1.38 MB

english, 2017

3

Genome-wide DNA methylation analysis reveals hypomethylation in the low-CpG promoter regions in lymphoblastoid cell lines

Taniguchi, Itsuki, Iwaya, Chihiro, Ohnaka, Keizo, Shibata, Hiroki, Yamamoto, Ken

Journal:

Year:

2017

Language:

english

File:

PDF, 1.25 MB

english, 2017

4

Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys

Katie L. Ayers,Aurore Bouty,Gorjana Robevska,Jocelyn A. van den Bergen…

Journal:

Year:

2017

Language:

english

File:

PDF, 977 KB

english, 2017

5

Genetic determinants of clinical heterogeneity of the coronary artery disease in the population of Hyderabad, India

Rayabarapu Pranavchand,Arramraju Sreenivas Kumar,Battini Mohan Reddy

Journal:

Year:

2017

Language:

english

File:

PDF, 1.27 MB

english, 2017

6

Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera

Elina A. M. Hirvonen,Esa Pitkänen,Kari Hemminki,Lauri A. Aaltonen…

Journal:

Year:

2017

Language:

english

File:

PDF, 381 KB

english, 2017

7

In silico prioritization and further functional characterization ofSPINK1intronic variants

Wen-Bin Zou,Hao Wu,Arnaud Boulling,David N. Cooper,Zhao-Shen Li…

Journal:

Year:

2017

Language:

english

File:

PDF, 927 KB

english, 2017

8

Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics

Khalid Mahmood,Chol-hee Jung,Gayle Philip,Peter Georgeson…

Journal:

Year:

2017

Language:

english

File:

PDF, 669 KB

english, 2017

9

Identification of novel genes associated with HIV-1 latency by analysis of histone modifications

Kyung-Chang Kim,Sunyoung Lee,Junseock Son,Younghyun Shin…

Journal:

Year:

2017

Language:

english

File:

PDF, 1.11 MB

english, 2017

10

A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets

Teresa Requena,Alvaro Gallego-Martinez,Jose A. Lopez-Escamez

Journal:

Year:

2017

Language:

english

File:

PDF, 1.03 MB

english, 2017

11

Genetic variation in neurodegenerative diseases and its accessibility in the model organismCaenorhabditis elegans

Yiru Anning Wang,Jan Edward Kammenga,Simon Crawford Harvey

Journal:

Year:

2017

Language:

english

File:

PDF, 1.19 MB

english, 2017

12

TheNF1somatic mutational landscape in sporadic human cancers

Charlotte Philpott,Hannah Tovell,Ian M. Frayling,David N. Cooper…

Journal:

Year:

2017

Language:

english

File:

PDF, 914 KB

english, 2017

13

The Israeli National Genetic database: a 10-year experience

Joël Zlotogora,George P. Patrinos

Journal:

Year:

2017

Language:

english

File:

PDF, 338 KB

english, 2017

14

Development and validation of a variant detection workflow forBRCA1andBRCA2genes and its clinical application based on the Ion Torrent technology

Ana Lígia Buzolin,Caroline Mônaco Moreira,Patricia Rossi Sacramento…

Journal:

Year:

2017

Language:

english

File:

PDF, 1.31 MB

english, 2017

15

Single nucleotide polymorphisms in the angiogenic and lymphangiogenic pathways are associated with lymphedema caused by Wuchereria bancrofti

Debrah, Linda Batsa, Albers, Anna, Debrah, Alexander Yaw, Brockschmidt, Felix F., Becker, Tim, Herold, Christine, Hofmann, Andrea, Osei-Mensah, Jubin, Mubarik, Yusif, Fröhlich, Holger, Hoerauf, Achim,

Journal:

Year:

2017

Language:

english

File:

PDF, 1.02 MB

english, 2017

16

Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients

Zhytnik, Lidiia, Maasalu, Katre, Reimann, Ene, Prans, Ele, Kõks, Sulev, Märtson, Aare

Journal:

Year:

2017

Language:

english

File:

PDF, 820 KB

english, 2017

17

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

Alsemari, Abdulaziz, Al-Younes, Banan, Goljan, Ewa, Jaroudi, Dyala, BinHumaid, Faisal, Meyer, Brian F., Arold, Stefan T., Monies, Dorota

Journal:

Year:

2017

Language:

english

File:

PDF, 3.48 MB

english, 2017

18

Overexpressed HSF1 cancer signature genes cluster in human chromosome 8q

Zhang, Christopher Q., Williams, Heinric, Prince, Thomas L., Ho, Eric S.

Journal:

Year:

2017

Language:

english

File:

PDF, 1.79 MB

english, 2017

19

Whole transcriptome analysis of human erythropoietic cells during ontogenesis suggests a role of VEGFA gene as modulator of fetal hemoglobin and pharmacogenomic biomarker of treatment response to hydroxyurea in β-type hemoglobinopathy patients

Chondrou, Vasiliki, Kolovos, Petros, Sgourou, Argyro, Kourakli, Alexandra, Pavlidaki, Alexia, Kastrinou, Vlasia, John, Anne, Symeonidis, Argiris, Ali, Bassam R., Papachatzopoulou, Adamantia, Katsila,

Journal:

Year:

2017

Language:

english

File:

PDF, 1.69 MB

english, 2017

20

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

Helm, Benjamin M., Willer, Jason R., Sadeghpour, Azita, Golzio, Christelle, Crouch, Eric, Vergano, Samantha Schrier, Katsanis, Nicholas, Davis, Erica E.

Journal:

Year:

2017

Language:

english

File:

PDF, 1.43 MB

english, 2017

21

Inferring clonal structure in HTLV-1-infected individuals: towards bridging the gap between analysis and visualization

Farmanbar, Amir, Firouzi, Sanaz, Makałowski, Wojciech, Iwanaga, Masako, Uchimaru, Kaoru, Utsunomiya, Atae, Watanabe, Toshiki, Nakai, Kenta

Journal:

Year:

2017

Language:

english

File:

PDF, 2.25 MB

english, 2017

22

Long non-coding RNAs as novel players in β cell function and type 1 diabetes

Mirza, Aashiq H., Kaur, Simranjeet, Pociot, Flemming

Journal:

Year:

2017

Language:

english

File:

PDF, 1.22 MB

english, 2017

23

A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens

Scimone, Concetta, Donato, Luigi, Esposito, Teresa, Rinaldi, Carmela, D’Angelo, Rosalia, Sidoti, Antonina

Journal:

Year:

2017

Language:

english

File:

PDF, 1.03 MB

english, 2017

24

Falling giants and the rise of gene editing: ethics, private interests and the public good

Capps, Benjamin, Chadwick, Ruth, Joly, Yann, Mulvihill, John J., Lysaght, Tamra, Zwart, Hub

Journal:

Year:

2017

Language:

english

File:

PDF, 443 KB

english, 2017

25

Distinct transcriptional and metabolic profiles associated with empathy in Buddhist priests: a pilot study

Ohnishi, Junji, Ayuzawa, Satoshi, Nakamura, Seiji, Sakamoto, Shigeko, Hori, Miyo, Sasaoka, Tomoko, Takimoto-Ohnishi, Eriko, Tanatsugu, Masakazu, Murakami, Kazuo

Journal:

Year:

2017

Language:

english

File:

PDF, 1.15 MB

english, 2017

26

Evaluating somatic tumor mutation detection without matched normal samples

Teer, Jamie K., Zhang, Yonghong, Chen, Lu, Welsh, Eric A., Cress, W. Douglas, Eschrich, Steven A., Berglund, Anders E.

Journal:

Year:

2017

Language:

english

File:

PDF, 1.31 MB

english, 2017

27

Precision medicine at the crossroads

Olson, Maynard V.

Journal:

Year:

2017

Language:

english

File:

PDF, 402 KB

english, 2017

28

Identification of functional single nucleotide polymorphisms in the branchpoint site

Chiang, Hung-Lun, Wu, Jer-Yuarn, Chen, Yuan-Tsong

Journal:

Year:

2017

Language:

english

File:

PDF, 1.43 MB

english, 2017

29

Identification of a novel genetic locus underlying tremor and dystonia

Monies, Dorota, Abou Al-Shaar, Hussam, Goljan, Ewa A., Al-Younes, Banan, Al-Breacan, Muna Monther Abdullah, Al-Saif, Maher Mohammed, Wakil, Salma M., Meyer, Brian F., Khabar, Khalid S. A., Bohlega, Sa

Journal:

Year:

2017

Language:

english

File:

PDF, 1.84 MB

english, 2017

30

The peptidylglycine-α-amidating monooxygenase (PAM) gene rs13175330 A>G polymorphism is associated with hypertension in a Korean population

Yoo, Hye Jin, Kim, Minjoo, Kim, Minkyung, Chae, Jey Sook, Lee, Sang-Hyun, Lee, Jong Ho

Journal:

Year:

2017

Language:

english

File:

PDF, 410 KB

english, 2017

31

Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients

Mitropoulos, Konstantinos, Merkouri Papadima, Eleni, Xiromerisiou, Georgia, Balasopoulou, Angeliki, Charalampidou, Kyriaki, Galani, Vasiliki, Zafeiri, Krystallia-Vassiliki, Dardiotis, Efthymios, Ralli

Journal:

Year:

2017

Language:

english

File:

PDF, 756 KB

english, 2017

32

Ethical frameworks for obtaining informed consent in tumour profiling: an evidence-based case for Singapore

Bylstra, Yasmin, Lysaght, Tamra, Thrivikraman, Jyothi, Watson, Sangeetha, Tan, Patrick

Journal:

Year:

2017

Language:

english

File:

PDF, 415 KB

english, 2017

33

Yale school of public health symposium on lifetime exposures and human health: the exposome; summary and future reflections

Johnson, Caroline H., Athersuch, Toby J., Collman, Gwen W., Dhungana, Suraj, Grant, David F., Jones, Dean P., Patel, Chirag J., Vasiliou, Vasilis

Journal:

Year:

2017

Language:

english

File:

PDF, 362 KB

english, 2017

34

Early-life adversity and long-term neurobehavioral outcomes: epigenome as a bridge?

Vaiserman, Alexander M., Koliada, Alexander K.

Journal:

Year:

2017

Language:

english

File:

PDF, 707 KB

english, 2017

35

Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

Alsemari, Abdulaziz, Al-Younes, Banan, Goljan, Ewa, Jaroudi, Dyala, BinHumaid, Faisal, Meyer, Brian F., Arold, Stefan T., Monies, Dorota

Journal:

Year:

2017

Language:

english

File:

PDF, 119 KB

english, 2017

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