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Medical Genetics at PeerJ

Latest articles and preprints

13 November 2018
Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome
Zhening Pu, Haoliang Sun, Junjie Du, Yue Cheng, Keshuai He, Buqing Ni, Weidong Gu, Juncheng Dai, Yongfeng Shao
Association of CYBA gene (-930 A/G and 242 C/T) polymorphisms with oxidative stress in breast cancer: a case-control study
Identification of candidate genes and proteins in aging skeletal muscle (sarcopenia) using gene expression and structural analysis
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Passenger mutations as a target for the personalized therapy of cancer
preprint
Kill two birds with one stone: making multi-transgenic pre-diabetes mouse models through insulin resistance and pancreatic apoptosis pathogenesis
preprint
Code-free bioinformatics pipeline for building biological databases used to construct cardiovascular-SNPDB: an online database for SNPs associated with cardiovascular metabolites
preprint
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Widely read

Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing
Uta Francke, Cheri Dijamco, Amy K. Kiefer, Nicholas Eriksson, Bianca Moiseff, Joyce Y. Tung, Joanna L. Mountain
13,635 views · 1,719 downloads
Playing with heart and soul…and genomes: sports implications and applications of personal genomics
5,921 views · 868 downloads
Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss
3,404 views · 980 downloads
Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment
2,989 views · 1,050 downloads
A predictive model for canine dilated cardiomyopathy—a meta-analysis of Doberman Pinscher data
2,811 views · 844 downloads

Editors' picks

Metabolomic analysis of obesity, metabolic syndrome, and type 2 diabetes: amino acid and acylcarnitine levels change along a spectrum of metabolic wellness
Diane M. Libert, Amy S. Nowacki, Marvin R. Natowicz
A bibliometric analysis in gene research of myocardial infarction from 2001 to 2015
Huaqiang Zhou, Wulin Tan, Zeting Qiu, Yiyan Song, Shaowei Gao

Recently cited

First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects
Constantinos Pangalos, Birgitta Hagnefelt, Konstantinos Lilakos, Christopher Konialis
19 citations · 2,085 views · 623 downloads
A predictive model for canine dilated cardiomyopathy—a meta-analysis of Doberman Pinscher data
Siobhan Simpson, Jennifer Edwards, Richard D. Emes, Malcolm A. Cobb, Nigel P. Mongan, Catrin S. Rutland
11 citations · 2,811 views · 844 downloads
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This Medical Genetics Overlay is a subset of the peer-reviewed articles and rapid preprints found in PeerJ and PeerJ Preprints, respectively.

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