Volume 9, issue 1, December 2015
34 articles in this issue
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Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients
Authors (first, second and last of 8)
- Eileen C. P. Lim
- Maggie Brett
- Ene-Choo Tan
- Content type: Primary research
- Open Access
- Published: 14 December 2015
- Article: 33
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Update of the human and mouse Fanconi anemia genes
Authors (first, second and last of 6)
- Hongbin Dong
- Daniel W. Nebert
- Vasilis Vasiliou
- Content type: Gene family update
- Open Access
- Published: 24 November 2015
- Article: 32
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Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments
Authors (first, second and last of 15)
- Yichuan Liu
- Yun Li
- Hakon Hakonarson
- Content type: Primary research
- Open Access
- Published: 11 November 2015
- Article: 31
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HDAC3 role in medication consumption in medication overuse headache patients: a pilot study
Authors (first, second and last of 10)
- Claudia Pisanu
- Stefano Caproni
- Paola Sarchielli
- Content type: Primary research
- Open Access
- Published: 05 November 2015
- Article: 30
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Genomics is changing personal healthcare and medicine: the dawn of iPH (individualized preventive healthcare)
Authors
- Ruty Mehrian-Shai
- Juergen K. V. Reichardt
- Content type: Opinion article
- Open Access
- Published: 04 November 2015
- Article: 29
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A survey of computational tools for downstream analysis of proteomic and other omic datasets
Authors
- Anis Karimpour-Fard
- L. Elaine Epperson
- Lawrence E. Hunter
- Content type: Review
- Open Access
- Published: 28 October 2015
- Article: 28
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Cancer classification in the genomic era: five contemporary problems
Authors
- Qingxuan Song
- Sofia D. Merajver
- Jun Z. Li
- Content type: Review
- Open Access
- Published: 19 October 2015
- Article: 27
This is part of 1 collection: -
Integrative DNA methylation and gene expression analysis to assess the universality of the CpG island methylator phenotype
Authors
- Matahi Moarii
- Fabien Reyal
- Jean-Philippe Vert
- Content type: PRIMARY RESEARCH
- Open Access
- Published: 13 October 2015
- Article: 26
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Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD
Authors (first, second and last of 12)
- Mary B. Mayes
- Taniesha Morgan
- Nadia Chuzhanova
- Content type: Primary research
- Open Access
- Published: 07 October 2015
- Article: 25
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Eyeing the Cyr61/CTGF/NOV (CCN) group of genes in development and diseases: highlights of their structural likenesses and functional dissimilarities
Authors
- Izabela Krupska
- Elspeth A. Bruford
- Brahim Chaqour
- Content type: Review
- Open Access
- Published: 23 September 2015
- Article: 24
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MATWIN: bridging the gap between academic research and industry
Authors
- Josy Reiffers
- Lucia Robert
- Content type: Letter to the Editor
- Open Access
- Published: 16 September 2015
- Article: 23
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Copy number alterations detected by whole-exome and whole-genome sequencing of esophageal adenocarcinoma
Authors (first, second and last of 8)
- Xiaoyu Wang
- Xiaohong Li
- James Y. Dai
- Content type: Primary research
- Open Access
- Published: 15 September 2015
- Article: 22
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Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response
Authors (first, second and last of 4)
- Luisa Azevedo
- Catarina Serrano
- David N. Cooper
- Content type: Review
- Open Access
- Published: 04 September 2015
- Article: 21
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Performance evaluation of indel calling tools using real short-read data
Authors
- Mohammad Shabbir Hasan
- Xiaowei Wu
- Liqing Zhang
- Content type: Review
- Open Access
- Published: 19 August 2015
- Article: 20
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Whole-genome sequencing targets drug-resistant bacterial infections
Authors (first, second and last of 4)
- N. V. Punina
- N. M. Makridakis
- A. F. Topunov
- Content type: Review
- Open Access
- Published: 05 August 2015
- Article: 19
This is part of 1 collection: -
Predicting the combined effect of multiple genetic variants
Authors
- Mingming Liu
- Layne T. Watson
- Liqing Zhang
- Content type: PRIMARY RESEARCH
- Open Access
- Published: 30 July 2015
- Article: 18
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Epigenetic inheritance and the missing heritability
Authors (first, second and last of 4)
- Marco Trerotola
- Valeria Relli
- Saverio Alberti
- Content type: Review
- Open Access
- Published: 28 July 2015
- Article: 17
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Fine-scale population structure of Malays in Peninsular Malaysia and Singapore and implications for association studies
Authors (first, second and last of 11)
- Boon-Peng Hoh
- Lian Deng
- Shuhua Xu
- Content type: Primary research
- Open Access
- Published: 22 July 2015
- Article: 16
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Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death
Authors (first, second and last of 23)
- Mindy H. Li
- Jenica L. Abrudan
- Victoria L. Vetter
- Content type: Primary research
- Open Access
- Published: 19 July 2015
- Article: 15
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SIRT1 affects DNA methylation of polycomb group protein target genes, a hotspot of the epigenetic shift observed in ageing
Authors (first, second and last of 11)
- Luisa A Wakeling
- Laura J Ions
- Dianne Ford
- Content type: Primary research
- Open Access
- Published: 24 June 2015
- Article: 14
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Genomics in the renal clinic - translating nephrogenetics for clinical practice
Authors (first, second and last of 5)
- Andrew Mallett
- Christopher Corney
- Helen Healy
- Content type: Opinion article
- Open Access
- Published: 24 June 2015
- Article: 13
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Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach
Authors (first, second and last of 16)
- Ioannis Karageorgos
- Clint Mizzi
- George P. Patrinos
- Content type: Primary research
- Open Access
- Published: 20 June 2015
- Article: 12
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Success stories in genomic medicine from resource-limited countries
Authors (first, second and last of 13)
- Konstantinos Mitropoulos
- Hayat Al Jaibeji
- George P. Patrinos
- Content type: Opinion article
- Open Access
- Published: 18 June 2015
- Article: 11
This is part of 1 collection: -
Clinical application of next-generation sequencing for Mendelian diseases
Authors
- Saumya Shekhar Jamuar
- Ene-Choo Tan
- Content type: Review
- Open Access
- Published: 16 June 2015
- Article: 10
This is part of 1 collection: -
Is the genomic translational pipeline being disrupted?
Authors
- Marc S. Williams
- Content type: Opinion article
- Open Access
- Published: 14 June 2015
- Article: 9
This is part of 1 collection: -
Prediction of complex human diseases from pathway-focused candidate markers by joint estimation of marker effects: case of chronic fatigue syndrome
Authors
- Madhuchhanda Bhattacharjee
- Mangalathu S. Rajeevan
- Mikko J. Sillanpää
- Content type: Primary research
- Open Access
- Published: 11 June 2015
- Article: 8
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Complement regulator CD46: genetic variants and disease associations
Authors
- M. Kathryn Liszewski
- John P. Atkinson
- Content type: Review
- Open Access
- Published: 10 June 2015
- Article: 7
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Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta
Authors (first, second and last of 9)
- Katre Maasalu
- Tiit Nikopensius
- Aare Märtson
- Content type: Primary research
- Open Access
- Published: 10 May 2015
- Article: 6
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Comparative sequence- and structure-inspired drug design for PilF protein of Neisseria meningitidis
Authors (first, second and last of 4)
- Abijeet Singh Mehta
- Kirti Snigdha
- Panagiotis A Tsonis
- Content type: Primary research
- Open Access
- Published: 19 April 2015
- Article: 5
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Reviewer acknowledgement 2015
Authors
- Vasilis Vasiliou
- Content type: Reviewer acknowledgement
- Open Access
- Published: 27 March 2015
- Article: 4
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Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours
Authors (first, second and last of 10)
- Laura E Thomas
- Jincy Winston
- Meena Upadhyaya
- Content type: Primary research
- Open Access
- Published: 15 February 2015
- Article: 3
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Rapid detection of genetic mutations in individual breast cancer patients by next-generation DNA sequencing
Authors (first, second and last of 24)
- Suqin Liu
- Hongjiang Wang
- Tao Zhou
- Content type: Primary research
- Open Access
- Published: 08 February 2015
- Article: 2
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Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities
Authors
- Tesfaye B Mersha
- Tilahun Abebe
- Content type: Review
- Open Access
- Published: 07 January 2015
- Article: 1