Abstract
Abstracts of papers presented at the 25th Genetics Society's Mammalian Genetics and Development Workshop held at the Institute of Child Health, University College London on 7th November 2014.
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- Published online by Cambridge University Press:
- 09 January 2015, e1
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Research Papers
Mutation load under additive fitness effects
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- 23 February 2015, e2
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Malignant phenotype and two SDHD mutations in a family with paraganglioma syndrome type 1
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- 30 March 2015, e3
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Whole-exome sequencing and its impact in hereditary hearing loss
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- 31 March 2015, e4
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Spry2 regulates signalling dynamics and terminal bud branching behaviour during lung development
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- 31 March 2015, e5
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Inference of posterior inclusion probability of QTLs in Bayesian shrinkage analysis
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- 10 April 2015, e6
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Evaluation of the p53 Arg72Pro polymorphism and its association with cancer risk: a HuGE review and meta-analysis
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- 17 April 2015, e7
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ReMo-SNPs: a new software tool for identification of polymorphisms in regions and motifs genome-wide
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- 17 April 2015, e8
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Genome-wide interaction analysis of quantitative traits in outbred mice
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- 20 April 2015, e9
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Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic
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- 04 May 2015, e10
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GREM1 germline mutation screening in Ashkenazi Jewish patients with familial colorectal cancer
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- 20 May 2015, e11
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Retraction
Spry2 regulates signalling dynamics and terminal bud branching behaviour during lung development - RETRACTION
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- 19 May 2015, e12
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Research Papers
Pharmacogenomic and pharmacogenetic-guided therapy as a tool in precision medicine: current state and factors impacting acceptance by stakeholders
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- 01 June 2015, e13
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The role of GRIK4 gene in treatment-resistant depression
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- 03 July 2015, e14
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Review
The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders
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- 14 September 2015, e15
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Research Papers
Determination of obesity associated gene variants related to TMEM18 through ultra-deep targeted re-sequencing in a case-control cohort for pediatric obesity
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- 14 September 2015, e16
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Perspective
Next generation sequencing for newborn screening: are we there yet?
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- 22 September 2015, e17
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Research Papers
Global patterns of large copy number variations in the human genome reveal complexity in chromosome organization
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- 22 September 2015, e18
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Short Note
A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis
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- 06 October 2015, e19
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Research Papers
Detecting association of rare and common variants by adaptive combination of P-values
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- 06 October 2015, e20
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