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Most Cited Papers In Last Two Years

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Open Access Perspective Review
Open Access Perspective Review

The importance of genetics in an advanced integrative model of autism spectrum disorder

This article belongs to the Special Issue Topic: Genetic Basis and Treatment of Psychiatric Disorders
Open Access Review
Open Access Review

Rationale for haploinsufficiency correction therapy in neurofibromatosis type 1

Open Access Review
Open Access Review

Genetic risk and its role in primary prevention of CAD

Open Access Review
Open Access Review

The many roles of the Alzheimer-associated gene PM20D1

Open Access Original Article
Open Access Original Article

Development and early evaluation of clinical decision support for long QT syndrome population screening

Open Access Case Report
Open Access Case Report

NUT midline carcinoma presenting initially as thyroid cancer: a case report and review of treatment

This article belongs to the Special Issue Topic: Genetics, Diagnosis and Treatment of Rare Diseases
Open Access Review
Open Access Review

Genetic approaches and pathogenic pathways in the clinical management of Charcot-Marie-Tooth disease

This article belongs to the Special Issue Topic: Genetics, Diagnosis and Treatment of Rare Diseases
Open Access Review
Open Access Review

Diagnostic strategies in patients with undiagnosed and rare diseases

This article belongs to the Special Issue Topic: Genetics, Diagnosis and Treatment of Rare Diseases
Open Access Review
Open Access Review

Neurogenic dysphagia: current pharmacogenomic perspectives

Open Access Review
Open Access Review

Potentials and challenges of launching the pilot phase of Hong Kong Genome Project

This article belongs to the Special Issue Topic: Genomics & Precision Health
Open Access Case Report
Open Access Case Report

Potential therapeutic response in a severe case of autosomal dominant osteopetrosis type I

This article belongs to the Special Issue Topic: Genetics, Diagnosis and Treatment of Rare Diseases
Open Access Case Report
Open Access Case Report

Clinical characterization of a new individual with mild SC4MOL deficiency: diagnostic and therapeutic implications

This article belongs to the Special Issue Topic: Genetics, Diagnosis and Treatment of Rare Diseases
Open Access Original Article
Open Access Original Article

Estrogen and DNA damage modulate mRNA levels of genes involved in homologous recombination repair in estrogen-deprived cells

This article belongs to the Special Issue Topic: DNA Damage and Repair in Human Diseases
Open Access Original Article
Open Access Original Article

Genetic predisposition to obesity and inflammation in a tri-racial/ethnic breast cancer population

This article belongs to the Special Issue Topic: Genetics and Epigenetics in Obesity Associated Cancers
Open Access Review
Open Access Review

Transcriptomics insights into interpreting AMD-GWAS discoveries for biological and clinical applications

This article belongs to the Special Issue Topic: Translational Research into Retinal Diseases
Open Access Review
Open Access Review

The DNA damage response - from cell biology to human disease

This article belongs to the Special Issue Topic: DNA Damage and Repair in Human Diseases
Open Access Review
Open Access Review

Stem cell-based therapy for myopic maculopathy: a new concept

This article belongs to the Special Issue Topic: Translational Research into Retinal Diseases
Open Access Original Article
Open Access Original Article

Epilepsy and electroencephalography in Pitt-Hopkins syndrome

This article belongs to the Special Issue Topic: Genetic Neurodevelopmental Diseases
Open Access Review
Open Access Review

Roles of gut dysbiosis, anti-proliferative proteins, and post-transcriptional regulation in carcinogenesis

Open Access Review
Open Access Review

Enigmatic role of WRN-RECQL helicase in DNA repair and its implications in cancer

This article belongs to the Special Issue Topic: DNA Damage and Repair in Human Diseases
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Journal of Translational Genetics and Genomics
ISSN 2578-5281 (Online)
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Portico

All published articles are preserved here permanently:

https://www.portico.org/publishers/oae/