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Featured article: Rare CNV screening in ulcerative colitis

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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.

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Featured case report: Novel mutation linked to MODY

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This case reports a novel heterozygous missense mutation in the HNF-1α gene in a family with members affected by maturity onset diabetes of the young (MODY). The family also showed increased susceptibility to type 2 diabetes. The authors conclude that the presence of type 2 diabetes should not detract from the possibility of MODY in patients with family history.

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1. CASE REPORT

   Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report

   Melanie M. Y. Chan, Angela Barnicoat, Faiz Mumtaz, Michael Aitchison, Lucy Side, Helen Brittain, Alan W. H. Bates and Daniel P. Gale

   Published on: 26 July 2017
2. RESEARCH ARTICLE

   Associations between male infertility and ancestry in South Americans: a case control study

   Maria Fernanda Skowronek, Tatiana Velazquez, Patricia Mut, Gonzalo Figueiro, Monica Sans, Bernardo Bertoni and Rossana Sapiro

   Published on: 26 July 2017
3. RESEARCH ARTICLE

   Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects

   Fernando Cristo, José M. Inácio, Salomé de Almeida, Patrícia Mendes, Duarte Saraiva Martins, José Maio, Rui Anjos and José A. Belo

   Published on: 24 July 2017
4. RESEARCH ARTICLE

   Association between 28 single nucleotide polymorphisms and type 2 diabetes mellitus in the Kazakh population: a case-control study

   Nurgul Sikhayeva, Aisha Iskakova, Nuria Saigi-Morgui, Elena Zholdybaeva, Chin-Bin Eap and Erlan Ramanculov

   Published on: 24 July 2017
5. CASE REPORT

   Whole genome sequencing identifies a novel ALMS1gene mutation in two Chinese siblings with Alström syndrome

   Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian and Wenhao Zhou

   Published on: 19 July 2017

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