BMC Medical Genetics | Home page

BMC Medical Genetics | Home page

BMC Medical Genetics

Featured article: Rare CNV screening in ulcerative colitis

iStock Photo

Genome-wide rare copy number variants contributing to risk of ulcerative colitis are identified from this multi-step case control analysis. Three rare copy number variants were reproduced in independent follow-up sample sets from twenty four in the initial panel.

Read more

We are recruiting new Editorial Board members

We are now recruiting Associate Editors for our Editorial Board to join our team of academic editors in assessing manuscripts in the field of medical genetics.

Read more

Articles

• Recent
• Most accessed

Recent articles RSS

1. RESEARCH ARTICLE

   Performance of risk prediction for inflammatory bowel disease based on genotyping platform and genomic risk score method

   Guo-Bo Chen, Sang Hong Lee, Grant W. Montgomery, Naomi R. Wray, Peter M. Visscher, Richard B. Gearry, Ian C. Lawrance, Jane M. Andrews, Peter Bampton, Gillian Mahy, Sally Bell, Alissa Walsh, Susan Connor, Miles Sparrow, Lisa M. Bowdler, Lisa A. Simms…

   Published on: 29 August 2017
2. RESEARCH ARTICLE

   Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation

   Qingping Zhang, Jiaping Wang, Jiarui Li, Xinhua Bao, Ying Zhao, Xiaoying Zhang, Liping Wei and Xiru Wu

   Published on: 29 August 2017
3. RESEARCH ARTICLE

   An Aγ-globin G->A gene polymorphism associated with β039 thalassemia globin gene and high fetal hemoglobin production

   Giulia Breveglieri, Nicoletta Bianchi, Lucia Carmela Cosenza, Maria Rita Gamberini, Francesco Chiavilli, Cristina Zuccato, Giulia Montagner, Monica Borgatti, Ilaria Lampronti, Alessia Finotti and Roberto Gambari

   Published on: 29 August 2017
4. RESEARCH ARTICLE

   Vitamin D receptor gene polymorphisms in association with diabetic nephropathy: a systematic review and meta-analysis

   Lina Yang, Lan Wu, Yi Fan and Jianfei Ma

   Published on: 29 August 2017
5. CASE REPORT

   A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome

   Kui Chen, Ke Yang, Su-Shan Luo, Chen Chen, Ying Wang, Yi-Xuan Wang, Da-Ke Li, Yu-Jie Yang, Yi-Lin Tang, Feng-Tao Liu, Jian Wang, Jian-Jun Wu and Yi-Min Sun

   Published on: 23 August 2017

View all articles