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Functional genetics Section edited by John Schimenti

This section incorporates all aspects of the functional analysis of genes and genomes including but not limited to: sequence analysis and genotyping approaches to finding functional variation in genes and gene families, experimental studies of gene function, transcriptional regulation and gene expression.

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1.

Research article   Open Access

Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype

Fatih Bayrakli, Bulent Guclu, Cengiz Yakicier, Hatice Balaban, Ugur Kartal, Bekir Erguner, Mahmut Sagiroglu, Sirin Yuksel, Ahmet Ozturk, Burak Kazanci, Unal Ozum, Hamit Kars BMC Genetics 2013, 14:95 (28 September 2013)

Abstract | Full text | PDF | PubMed

2.

Research article   Open Access

The sodium channel gene family is specifically expressed in Hen uterus and associated with eggshell quality traits

Yan-Feng Fan, Zhuo-Cheng Hou, Guo-Qiang Yi, Gui-Yun Xu, Ning Yang BMC Genetics 2013, 14:90 (24 September 2013)

Abstract | Provisional PDF | PubMed

3.

Research article   Open Access

Signatures of selection identify loci associated with milk yield in sheep

Bianca Moioli, Maria Scatà, Roberto Steri, Francesco Napolitano, Gennaro Catillo BMC Genetics 2013, 14:76 (3 September 2013)

Abstract | Full text | PDF | ePUB | PubMed

4.

Research article   Open Access

Predictors of mother and child DNA yields in buccal cell samples collected in pediatric cancer epidemiologic studies: a report from the Children’s Oncology group

Jenny N Poynter, Julie A Ross, Anthony J Hooten, Erica Langer, Crystal Blommer, Logan G Spector BMC Genetics 2013, 14:69 (12 August 2013)

Abstract | Full text | PDF | ePUB | PubMed

5.

Research article   Open Access

UGT2B17 copy number gain in a large ankylosing spondylitis multiplex family

Mohammed Uddin, Walter P Maksymowych, Robert Inman, Dafna Gladman, Alexandra Munn, Ramin Yazdani, Fawnda Pellett, Sean Hamilton, Darren D O’Rielly, Proton Rahman BMC Genetics 2013, 14:67 (8 August 2013)

Abstract | Full text | PDF | PubMed

6.

Research article   Open Access

A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein

Johanna Aigner, Sergi Villatoro, Raquel Rabionet, Jaume Roquer, Jordi Jiménez-Conde, Eulàlia Martí, Xavier Estivill BMC Genetics 2013, 14:61 (6 July 2013)

Abstract | Full text | PDF | ePUB | PubMed

7.

Research article   Open Access

Splice variants and promoter methylation status of the Bovine Vasa Homology (Bvh) gene may be involved in bull spermatogenesis

Hua Luo, Yang Zhou, Yingxia Li, Qifa Li BMC Genetics 2013, 14:58 (1 July 2013)

Abstract | Full text | PDF | PubMed

8.

Research article   Open Access

Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot

Julian Palomino Doza, Ana Topf, Jamie Bentham, Shoumo Bhattacharya, Catherine Cosgrove, J Brook, Javier Granados-Riveron, Frances A Bu’Lock, John O’Sullivan, A Stuart, Jonathan Parsons, Caroline Relton, Judith Goodship, Deborah J Henderson, Bernard Keavney BMC Genetics 2013, 14:57 (19 June 2013)

Abstract | Full text | PDF | ePUB | PubMed

9.

Research article   Open Access

Contrasting effects of Deadend1 (Dnd1) gain and loss of function mutations on allelic inheritance, testicular cancer, and intestinal polyposis

Jennifer L Zechel, Stephanie K Doerner, Angela Lager, Paul J Tesar, Jason D Heaney, Joseph H Nadeau BMC Genetics 2013, 14:54 (17 June 2013)

Abstract | Full text | PDF | ePUB | PubMed

10.

Research article   Open Access

Breed, sex and anatomical location-specific gene expression profiling of the porcine skeletal muscles

Jie Zhang, Chaowei Zhou, Jideng Ma, Lei Chen, Anan Jiang, Li Zhu, Surong Shuai, Jinyong Wang, Mingzhou Li, Xuewei Li BMC Genetics 2013, 14:53 (15 June 2013)

Abstract | Full text | PDF | ePUB | PubMed

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