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Total of 52 results See all subject areas
medical genetics

Purpose. To design and validate a prenatal chromosomal microarray testing strategy that moves away from size-based detection thresholds, towards a more clinically relevant analysis, providing higher resolution than G-banded chromosomes but avoiding the detection...

["Genetics","Medical Genetics","Ethical Issues"]
doi:10.7717/peerj.354

Pendred syndrome (PDS) and DFNB4 comprise a phenotypic spectrum of sensorineural hearing loss disorders that typically result from biallelic mutations of the SLC26A4 gene. Although PDS and DFNB4 are recessively inherited, sequencing of the coding regions and splice...

["Genetics","Medical Genetics","Otorhinolaryngology","Pathology","Pediatrics"]
doi:10.7287/peerj.preprints.275v1

Pioneered by companies like 23andMe.com, deCODEme.com, and Navigenics.com, direct-to-consumer genetic testing refers to genetic tests that are marketed directly to consumers via television, print media, or the Internet. This kind of testing provides access to a...

["Genetics","Medical Genetics","Ethical Issues","Science and Medical Education"]
doi:10.7287/peerj.preprints.242v1

Purpose. To design and validate a prenatal chromosome microarray testing strategy that moves away from size-based detection thresholds, towards a more clinically relevant analysis, providing higher resolution than G-banded chromosomes but avoiding the detection...

["Medical Genetics","Ethical Issues"]
doi:10.7287/peerj.preprints.221v1

Whether the integration of genetic/omic technologies in sports contexts will facilitate player success, promote player safety, or spur genetic discrimination depends largely upon the game rules established by those currently designing genomic sports medicine programs....

["Medical Genetics","Public Health","Ethical Issues","Legal Issues","Science Policy"]
doi:10.7717/peerj.120

Background. Natural selection operates on genetically influenced phenotypic variations that confer differential survival or reproductive advantages. Common diseases are frequently associated with increased mortality and disability and complex heritable factors...

["Evolutionary Studies","Genetics","Medical Genetics","Public health"]
doi:10.7287/peerj.preprints.42v1

Context. Leri–Weill dyschondrosteosis is a clinically variable skeletal dysplasia, caused by SHOX deletion or mutations, or a deletion of enhancer sequences in the 3’-flanking region. Recently, a 47.5 kb recurrent PAR1 deletion downstream of SHOX was reported,...

["Genetics","Medical Genetics","Pediatrics","Statistics"]
doi:10.7717/peerj.35

Background. Inherited BRCA gene mutations convey a high risk for breast and ovarian cancer, but current guidelines limit BRCA mutation testing to women with early-onset cancer and relatives of mutation-positive cases. Benefits and risks of providing this information...

["Genetics","Genomics","Medical Genetics","Ethical Issues"]
doi:10.7717/peerj.8
Francke
E
Uta Francke @UFrancke

Stanford University • 23andMe, Inc

Uta Francke is Professor of Genetics and Pediatrics, Emeritus, Stanford University School of Medicine. Past President, American Society of Human Genetics; Past President,...

["Medical Genetics","Translational Medicine","Genetics","Genomics"]

Emmert-Streib
E
Frank Emmert-Streib @FrankEmmertStreib

Queen’'s University Belfast

Lecturer/Assistant Professor, Center for Cancer Research and Cell Biology, Queen’s University Belfast. Head of the Computational Biology and Machine Learning La...

["Computational Biology","Medical Genetics","Statistics","Evidence Based Medicine","Genomics","Translational Medicine","Computational Science"]

Darin Takemoto @DarinTakemoto

Vertex Pharmaceuticals

["Computational Biology","Statistics","Genomics","Genetics","Medical Genetics","Translational Medicine"]

Wit
E

Leiden University Medical Center

Emeritus Professor of Pediatrics, Leiden University Medical Center. Specialized in pediatric endocrinology, with emphasis on the genetics of growth regulation, and...

["Pediatrics","Evidence Based Medicine","Diabetes & Endocrinology","Medical Genetics"]

Bora Baysal @baysalbe

Roswell Park Cancer Institute

I am a physician-scientist who studies role of succinate dehydrogenase (mitochondrial complex II) in health and disease with special emphasis on oxygen sensing and...

["Genetics","Evolutionary Studies","Pathology","Medical Genetics"]

Pomp
E

University of North Carolina - Chapel Hill

Professor of Genetics and Nutrition at UNC Chapel Hill. Member of the Carolina Center for Genome Sciences and the Lineberger Comprehensive Cancer Center. Co-Founder...

["Genetics","Medical Genetics","Agricultural Science"]

Evans
E

University of Manchester

Has published 484 peer reviewed research publications; 182 as first or senior author, with over 100 on neurofibromatosis. Lead a successful bid for a Nationally...

["Epidemiology","Genetics","Oncology","Medical Genetics"]

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