Volume 11, issue 1, December 2017
35 articles in this issue
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Early-life adversity and long-term neurobehavioral outcomes: epigenome as a bridge?
Authors
- Alexander M. Vaiserman
- Alexander K. Koliada
- Content type: Review
- Open Access
- Published: 16 December 2017
- Article: 34
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Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism
Authors (first, second and last of 8)
- Abdulaziz Alsemari
- Banan Al-Younes
- Dorota Monies
- Content type: Correction
- Open Access
- Published: 08 December 2017
- Article: 33
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Yale school of public health symposium on lifetime exposures and human health: the exposome; summary and future reflections
Authors (first, second and last of 8)
- Caroline H. Johnson
- Toby J. Athersuch
- Vasilis Vasiliou
- Content type: Meeting Report
- Open Access
- Published: 08 December 2017
- Article: 32
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Ethical frameworks for obtaining informed consent in tumour profiling: an evidence-based case for Singapore
Authors (first, second and last of 5)
- Yasmin Bylstra
- Tamra Lysaght
- Patrick Tan
- Content type: Primary Research
- Open Access
- Published: 08 December 2017
- Article: 31
This is part of 2 collections: -
Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients
Authors (first, second and last of 33)
- Konstantinos Mitropoulos
- Eleni Merkouri Papadima
- George P. Patrinos
- Content type: Primary Research
- Open Access
- Published: 08 December 2017
- Article: 30
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The peptidylglycine-α-amidating monooxygenase (PAM) gene rs13175330 A>G polymorphism is associated with hypertension in a Korean population
Authors (first, second and last of 6)
- Hye Jin Yoo
- Minjoo Kim
- Jong Ho Lee
- Content type: Primary Research
- Open Access
- Published: 21 November 2017
- Article: 29
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Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism
Authors (first, second and last of 8)
- Abdulaziz Alsemari
- Banan Al-Younes
- Dorota Monies
- Content type: Primary Research
- Open Access
- Published: 14 November 2017
- Article: 28
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Identification of functional single nucleotide polymorphisms in the branchpoint site
Authors
- Hung-Lun Chiang
- Jer-Yuarn Wu
- Yuan-Tsong Chen
- Content type: Primary Research
- Open Access
- Published: 09 November 2017
- Article: 27
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Single nucleotide polymorphisms in the angiogenic and lymphangiogenic pathways are associated with lymphedema caused by Wuchereria bancrofti
Authors (first, second and last of 12)
- Linda Batsa Debrah
- Anna Albers
- Kenneth Pfarr
- Content type: Primary Research
- Open Access
- Published: 09 November 2017
- Article: 26
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Identification of a novel genetic locus underlying tremor and dystonia
Authors (first, second and last of 10)
- Dorota Monies
- Hussam Abou Al-Shaar
- Saeed Bohlega
- Content type: Primary Research
- Open Access
- Published: 06 November 2017
- Article: 25
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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
Authors (first, second and last of 12)
- Vasiliki Chondrou
- Petros Kolovos
- George P. Patrinos
- Content type: Primary Research
- Open Access
- Published: 23 October 2017
- Article: 24
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Precision medicine at the crossroads
Authors
- Maynard V. Olson
- Content type: Opinion Article
- Open Access
- Published: 11 October 2017
- Article: 23
This is part of 2 collections: -
Evaluating somatic tumor mutation detection without matched normal samples
Authors (first, second and last of 7)
- Jamie K. Teer
- Yonghong Zhang
- Anders E. Berglund
- Content type: Primary Research
- Open Access
- Published: 04 September 2017
- Article: 22
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Distinct transcriptional and metabolic profiles associated with empathy in Buddhist priests: a pilot study
Authors (first, second and last of 9)
- Junji Ohnishi
- Satoshi Ayuzawa
- Kazuo Murakami
- Content type: Primary Research
- Open Access
- Published: 02 September 2017
- Article: 21
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Falling giants and the rise of gene editing: ethics, private interests and the public good
Authors (first, second and last of 6)
- Benjamin Capps
- Ruth Chadwick
- Hub Zwart
- Content type: Opinion
- Open Access
- Published: 29 August 2017
- Article: 20
This is part of 2 collections: -
Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients
Authors (first, second and last of 6)
- Lidiia Zhytnik
- Katre Maasalu
- Aare Märtson
- Content type: Primary Research
- Open Access
- Published: 15 August 2017
- Article: 19
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A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens
Authors (first, second and last of 6)
- Concetta Scimone
- Luigi Donato
- Antonina Sidoti
- Content type: Primary Research
- Open Access
- Published: 01 August 2017
- Article: 18
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Long non-coding RNAs as novel players in β cell function and type 1 diabetes
Authors
- Aashiq H. Mirza
- Simranjeet Kaur
- Flemming Pociot
- Content type: Review
- Open Access
- Published: 24 July 2017
- Article: 17
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Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome
Authors (first, second and last of 8)
- Benjamin M. Helm
- Jason R. Willer
- Erica E. Davis
- Content type: Primary Research
- Open Access
- Published: 19 July 2017
- Article: 16
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Inferring clonal structure in HTLV-1-infected individuals: towards bridging the gap between analysis and visualization
Authors (first, second and last of 8)
- Amir Farmanbar
- Sanaz Firouzi
- Kenta Nakai
- Content type: Primary Research
- Open Access
- Published: 11 July 2017
- Article: 15
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Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology
Authors (first, second and last of 9)
- Ana LÃgia Buzolin
- Caroline Mônaco Moreira
- Miguel Mitne-Neto
- Content type: Primary Research
- Open Access
- Published: 26 June 2017
- Article: 14
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The NF1 somatic mutational landscape in sporadic human cancers
Authors (first, second and last of 5)
- Charlotte Philpott
- Hannah Tovell
- Meena Upadhyaya
- Content type: Review
- Open Access
- Published: 21 June 2017
- Article: 13
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Genetic variation in neurodegenerative diseases and its accessibility in the model organism Caenorhabditis elegans
Authors
- Yiru Anning Wang
- Jan Edward Kammenga
- Simon Crawford Harvey
- Content type: Review
- Open Access
- Published: 25 May 2017
- Article: 12
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A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets
Authors
- Teresa Requena
- Alvaro Gallego-Martinez
- Jose A. Lopez-Escamez
- Content type: Primary research
- Open Access
- Published: 22 May 2017
- Article: 11
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Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics
Authors (first, second and last of 7)
- Khalid Mahmood
- Chol-hee Jung
- Daniel J. Park
- Content type: Primary Research
- Open Access
- Published: 16 May 2017
- Article: 10
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Identification of novel genes associated with HIV-1 latency by analysis of histone modifications
Authors (first, second and last of 7)
- Kyung-Chang Kim
- Sunyoung Lee
- Byeong-Sun Choi
- Content type: Letter to the Editor
- Open Access
- Published: 12 May 2017
- Article: 9
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Genome-wide DNA methylation analysis reveals hypomethylation in the low-CpG promoter regions in lymphoblastoid cell lines
Authors (first, second and last of 5)
- Itsuki Taniguchi
- Chihiro Iwaya
- Ken Yamamoto
- Content type: Primary Research
- Open Access
- Published: 12 May 2017
- Article: 8
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In silico prioritization and further functional characterization of SPINK1 intronic variants
Authors (first, second and last of 8)
- Wen-Bin Zou
- Hao Wu
- Claude Férec
- Content type: Primary Research
- Open Access
- Published: 04 May 2017
- Article: 7
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Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera
Authors (first, second and last of 5)
- Elina A. M. Hirvonen
- Esa Pitkänen
- Outi Kilpivaara
- Content type: Primary research
- Open Access
- Published: 20 April 2017
- Article: 6
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The Israeli National Genetic database: a 10-year experience
Authors
- Joël Zlotogora
- George P. Patrinos
- Content type: Genome database
- Open Access
- Published: 16 March 2017
- Article: 5
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Transcriptome analysis of bronchoalveolar lavage fluid from children with severe Mycoplasma pneumoniae pneumonia reveals novel gene expression and immunodeficiency
Authors (first, second and last of 11)
- Kuo Wang
- Man Gao
- Xiaosong Wang
- Content type: Primary research
- Open Access
- Published: 16 March 2017
- Article: 4
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Genetic determinants of clinical heterogeneity of the coronary artery disease in the population of Hyderabad, India
Authors
- Rayabarapu Pranavchand
- Arramraju Sreenivas Kumar
- Battini Mohan Reddy
- Content type: Primary research
- Open Access
- Published: 04 March 2017
- Article: 3
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Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity
Authors
- Danielle Carpenter
- Laura M. Mitchell
- John A. L. Armour
- Content type: Primary research
- Open Access
- Published: 20 February 2017
- Article: 2
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Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys
Authors (first, second and last of 8)
- Katie L. Ayers
- Aurore Bouty
- Sultana M. H. Faradz
- Content type: Primary research
- Open Access
- Published: 16 February 2017
- Article: 1