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Medical Genetics at PeerJ

Latest articles and preprints

Genome-wide association study identifies novel type II diabetes risk loci in Jordan subpopulations

Rana Dajani, Jin Li, Zhi Wei, Michael E. March, Qianghua Xia, Yousef Khader, Nancy Hakooz, Raja Fatahallah, Mohammed El-Khateeb, Ala Arafat, Tareq Saleh, Abdel Rahman Dajani, Zaid Al-Abbadi, Mohamed Abdul Qader, Abdel Halim Shiyab, Anwar Bateiha, Kamel Ajlouni, Hakon Hakonarson

Analyses of antioxidant status and nucleotide alterations in genes encoding antioxidant enzymes in patients with benign and malignant thyroid disorders

Analysis of genomic variation in lung adenocarcinoma patients revealed the critical role of PI3K complex

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Bioinformatics approach reveals the gene targets of Ebola virus microRNAs involved in the human skin microbiome

Colonizer: Anandroid OS based automated microbial colony counter

Statistical methods for identifying sequence motifs affecting point mutations

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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

10,115 views · 1,368 downloads

Playing with heart and soul…and genomes: sports implications and applications of personal genomics

4,724 views · 685 downloads

Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss

2,479 views · 784 downloads

A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings

1,973 views · 792 downloads

A predictive model for canine dilated cardiomyopathy—a meta-analysis of Doberman Pinscher data

1,773 views · 637 downloads

Editors' picks

Susceptibility of Human Oral Squamous Cell Carcinoma (OSCC) H103 and H376 cell lines to Retroviral OSKM mediated reprogramming

Nalini Devi Verusingam, Swee Keong Yeap, Huynh Ky, Ian C. Paterson, Suan Phaik Khoo, Soon Keng Cheong, Alan H.K. Ong, Tunku Kamarul

Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment

Valentina S. Vysotskaia, Gregory J. Hogan, Genevieve M. Gould, Xin Wang, Alex D. Robertson, Kevin R. Haas, Mark R. Theilmann, Lindsay Spurka, Peter V. Grauman, Henry H. Lai, Diana Jeon, Genevieve Haliburton, Matt Leggett, Clement S. Chu, Kevin Iori, Jared R. Maguire, Kaylene Ready, Eric A. Evans, Hyunseok P. Kang, Imran S. Haque

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

8 citations · 1,300 views · 443 downloads

Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss

Lynn M. Pique, Marie-Luise Brennan, Colin J. Davidson, Frederick Schaefer, John Greinwald Jr, Iris Schrijver

6 citations · 2,479 views · 784 downloads

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Top Cancer Biology Papers - July 2015

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