Editor's Choice
Open Access
Review
New diagnostic pathways for mitochondrial disease
Mitochondrial diseases collectively represent the most common cause of inherited metabolic disease. They are estimated to affect at least 1 in 8,000 adults and at least 1 in 250 adults carry a disease-causing genetic mutation. They comprise a heterogeneous group of disorders caused by......
This article belongs to the Special Issue Diagnosis and Treatment of Mitochondrial Disease
J Transl Genet Genom 2020;4:188-202.
Published on: 18 Jun 2020
Viewed: 241 Downloaded: 101
Open Access
Original Article
Assigning single clinical features to their disease-locus in large deletions: the example of...
Assigning a disease-locus within the shortest regions of overlap (SRO) shared by deleted/duplicated subjects presenting this disease is a robust mapping approach, although the presence of different malformation traits and their attendance only in a part of the affected subjects can hinder the......
This article belongs to the Special Issue Genetics of Neurodevelopmental Disorders
J Transl Genet Genom 2020;4:114-132.
Published on: 18 Jun 2020
Viewed: 389 Downloaded: 100
Open Access
Original Article
Spectrum of MECP2 mutations in Indian females with Rett Syndrome - a large cohort study
This study aimed to characterize MECP2 gene variants in Indian female patients with classical Rett syndrome (RTT). Seventy-two patients fulfilling the revised diagnostic criteria of classical RTT were enrolled and exons 2-4 of MECP2 gene were analyzed by Sanger sequencing followed by......
This article belongs to the Special Issue Genetics of Neurodevelopmental Disorders
J Transl Genet Genom 2020;4:91-103.
Published on: 16 May 2020
Viewed: 367 Downloaded: 119
Articles
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Open Access Case Report
Precision medicine in early-onset epilepsy: the KCNQ2 paradigm
Elisabetta Amadori, ... Pasquale StrianoThis article belongs to the Special Issue Pharmacogenetics and Pharmacogenomics in Human DiseasesJ Transl Genet Genom 2020;4:278-284.Available online: 26 Jul 2020 Viewed: 188 Downloaded: 54 -
Open Access Review
A review of the pharmacogenomics of buprenorphine for the treatment of opioid use disorder
Hemanuel Arroyo Seguí, ... Jorge DucongeThis article belongs to the Special Issue Pharmacogenetics and Pharmacogenomics in Human DiseasesJ Transl Genet Genom 2020;4:263-277.Available online: 30 Jul 2020 Viewed: 292 Downloaded: 59 -
Open Access Review
Animal models of autism: a perspective from autophagy mechanisms
Halime Dana, ... Elif Funda SenerThis article belongs to the Special Issue Genetics of Neurodevelopmental DisordersJ Transl Genet Genom 2020;4:251-262.Available online: 19 Jul 2020 Viewed: 173 Downloaded: 51 -
Open Access Review
Human induced pluripotent cells in personalized treatment of monogenic epilepsies
Nazanin A. Mohammadi, ... Rikke S. MøllerThis article belongs to the Special Issue Genetics of Neurodevelopmental DisordersJ Transl Genet Genom 2020;4:238-250.Available online: 10 Jul 2020 Viewed: 371 Downloaded: 45 -
Open Access Review
Spectrum of movement disorders in mitochondrial diseases
Olimpia Musumeci, ... Antonio ToscanoThis article belongs to the Special Issue Diagnosis and Treatment of Mitochondrial DiseaseJ Transl Genet Genom 2020;4:221-237.Available online: 24 Jun 2020 Viewed: 266 Downloaded: 60 -
Open Access Original Article
The influence of CYP enzymes and ABCB1 on treatment outcomes in schizophrenia: association of CYP1A2 activity with adverse effects
Marc Cendrós, ... Rosa CatalánThis article belongs to the Special Issue Genetics of Neurodevelopmental DisordersJ Transl Genet Genom 2020;4:210-220.Available online: 24 Jun 2020 Viewed: 226 Downloaded: 50 -
Open Access Review
Historical analysis of suicide
Da-Yong Lu, ... Jin-Yu CheThis article belongs to the Special Issue Pharmacogenetics and Pharmacogenomics in Human DiseasesJ Transl Genet Genom 2020;4:203-209.Available online: 18 Jun 2020 Viewed: 107 Downloaded: 39 -
Open Access Review
New diagnostic pathways for mitochondrial disease
Eloise Watson, ... Carolyn M. SueThis article belongs to the Special Issue Diagnosis and Treatment of Mitochondrial DiseaseJ Transl Genet Genom 2020;4:188-202.Available online: 18 Jun 2020 Viewed: 241 Downloaded: 101
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Open Access ReviewChallenges in implementing genomic medicine: the 100,000 Genomes Project
Julian G. Barwell, ... Huw R. DorkinsThis article belongs to the Special Issue Personalized Genomic Medicine: Challenges and Opportunities for the Diagnosis and the Treatment of Human DiseaseJ Transl Genet Genom 2018;2:13.Published on: 11 Sep 2018 Viewed: 10520 Downloaded: 1239 -
Open Access Topic: Reversing X Chromosome Inactivation as a New Therapeutic Treatment for X-linked DiseasesReversal of X chromosome inactivation: lessons from pluripotent reprogramming of mouse and human somatic cells
Irene CantoneJ Transl Genet Genom 2017;1:1-14.Published on: 16 Nov 2017 Viewed: 9886 Downloaded: 825 -
Open Access Original ArticleCCEPAS: the creation and validation of a fast and sensitive clinical whole exome analysis pipeline based on gene and variant ranking
C. Alexander Valencia, ... Kejian ZhangJ Transl Genet Genom 2018;2:1.Published on: 31 Jan 2018 Viewed: 7066 Downloaded: 780 -
Open Access Review
Novel molecular players of X chromosome inactivation: new technologies and new insights
Piotr Przanowski*, ... Sanchita BhatnagarThis article belongs to the Special Issue Reversing X Chromosome Inactivation as a New Therapeutic Treatment for X-linked DiseasesJ Transl Genet Genom 2018;2:2.Published on: 27 Feb 2018 Viewed: 6173 Downloaded: 736 -
Open Access Editorial
Emerging role of microRNAs in allergic diseases
Faoud IshmaelThis article belongs to the Special Issue MicroRNAs in Allergic DiseasesJ Transl Genet Genom 2019;3:6.Published on: 14 Mar 2019 Viewed: 6038 Downloaded: 356 -
Open Access Original ArticleExome sequencing identifies FLNC and ADD3 variants in a family with cardiomyopathy
Alejandro J. Sanoja, ... Margaret R. WallaceJ Transl Genet Genom 2018;2:6.Published on: 30 May 2018 Viewed: 5629 Downloaded: 583 -
Open Access Topic: MicroRNAs in Allergic DiseasesMicroRNAs in atopic dermatitis: a review
Neeti BhardwajJ Transl Genet Genom 2017;1:15-22.Published on: 17 Nov 2017 Viewed: 5135 Downloaded: 789 -
Open Access ReviewMERRF and MELAS: current gene therapy trends and approaches
Ciara Ann Agresti, ... Peter ToliasThis article belongs to the Special Issue Personalized Genomic Medicine: Challenges and Opportunities for the Diagnosis and the Treatment of Human DiseaseJ Transl Genet Genom 2018;2:9.Published on: 3 Jul 2018 Viewed: 4926 Downloaded: 352
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Open Access Review
Challenges in implementing genomic medicine: the 100,000 Genomes Project
Julian G. Barwell, ... Huw R. DorkinsThis article belongs to the Special Issue Personalized Genomic Medicine: Challenges and Opportunities for the Diagnosis and the Treatment of Human DiseaseJ Transl Genet Genom 2018;2:13.Published on: 11 Sep 2018 Viewed: 10520 Downloaded: 1239 -
Open Access Topic: Reversing X Chromosome Inactivation as a New Therapeutic Treatment for X-linked Diseases
Reversal of X chromosome inactivation: lessons from pluripotent reprogramming of mouse and human somatic cells
Irene CantoneJ Transl Genet Genom 2017;1:1-14.Published on: 16 Nov 2017 Viewed: 9886 Downloaded: 825 -
Open Access Topic: MicroRNAs in Allergic Diseases
MicroRNAs in atopic dermatitis: a review
Neeti BhardwajJ Transl Genet Genom 2017;1:15-22.Published on: 17 Nov 2017 Viewed: 5135 Downloaded: 789 -
Open Access Original Article
CCEPAS: the creation and validation of a fast and sensitive clinical whole exome analysis pipeline based on gene and variant ranking
C. Alexander Valencia, ... Kejian ZhangJ Transl Genet Genom 2018;2:1.Published on: 31 Jan 2018 Viewed: 7066 Downloaded: 780 -
Open Access Review
Novel molecular players of X chromosome inactivation: new technologies and new insights
Piotr Przanowski*, ... Sanchita BhatnagarThis article belongs to the Special Issue Reversing X Chromosome Inactivation as a New Therapeutic Treatment for X-linked DiseasesJ Transl Genet Genom 2018;2:2.Published on: 27 Feb 2018 Viewed: 6173 Downloaded: 736 -
Open Access Review
Personalized medicine in epilepsy patients
Alessandro Orsini, ... Pasquale StrianoThis article belongs to the Special Issue Personalized Genomic Medicine: Challenges and Opportunities for the Diagnosis and the Treatment of Human DiseaseJ Transl Genet Genom 2018;2:16.Published on: 25 Oct 2018 Viewed: 4562 Downloaded: 672 -
Open Access Review
MicroRNAs in asthma pathogenesis - from mouse to man
Julie Weidner, ... Madeleine RådingerThis article belongs to the Special Issue MicroRNAs in Allergic DiseasesJ Transl Genet Genom 2019;3:2.Published on: 20 Jan 2019 Viewed: 2400 Downloaded: 620 -
Open Access OpinionSupport for developing personalized genomic medicine
Christine J. McNameeThis article belongs to the Special Issue Personalized Genomic Medicine: Challenges and Opportunities for the Diagnosis and the Treatment of Human DiseaseJ Transl Genet Genom 2018;2:20.Published on: 16 Dec 2018 Viewed: 2797 Downloaded: 583
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Open Access Review
Challenges in implementing genomic medicine: the 100,000 Genomes Project
Julian G. Barwell, ... Huw R. DorkinsThis article belongs to the Special Issue Personalized Genomic Medicine: Challenges and Opportunities for the Diagnosis and the Treatment of Human DiseaseJ Transl Genet Genom 2018;2:13.Published on: 11 Sep 2018 Viewed: 10520 Downloaded: 1239 -
Open Access Topic: MicroRNAs in Allergic Diseases
MicroRNAs in atopic dermatitis: a review
Neeti BhardwajJ Transl Genet Genom 2017;1:15-22.Published on: 17 Nov 2017 Viewed: 5135 Downloaded: 789 -
Open Access Review
MicroRNAs in asthma pathogenesis - from mouse to man
Julie Weidner, ... Madeleine RådingerThis article belongs to the Special Issue MicroRNAs in Allergic DiseasesJ Transl Genet Genom 2019;3:2.Published on: 20 Jan 2019 Viewed: 2400 Downloaded: 620 -
Open Access Review
Personalized medicine in epilepsy patients
Alessandro Orsini, ... Pasquale StrianoThis article belongs to the Special Issue Personalized Genomic Medicine: Challenges and Opportunities for the Diagnosis and the Treatment of Human DiseaseJ Transl Genet Genom 2018;2:16.Published on: 25 Oct 2018 Viewed: 4562 Downloaded: 672 -
Open Access Review
Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment
Bridget E. BaxThis article belongs to the Special Issue Diagnosis and Treatment of Mitochondrial DiseaseJ Transl Genet Genom 2020;4:1-16.Available online: 30 Mar 2020 Viewed: 1116 Downloaded: 251 -
Open Access ReviewEvolution of the prostate cancer genome towards resistance
Francesca Lorenzin, Francesca DemichelisThis article belongs to the Special Issue Genetics and Genomics of CancerJ Transl Genet Genom 2019;3:5.Published on: 12 Mar 2019 Viewed: 2999 Downloaded: 438 -
Open Access Original ArticleIndividual xenografts for personalized treatment of women with metastatic triple negative breast cancer
Thuy T. Nguyen, ... Guilhem BousquetThis article belongs to the Special Issue Personalized Genomic Medicine: Challenges and Opportunities for the Diagnosis and the Treatment of Human DiseaseJ Transl Genet Genom 2018;2:19.Published on: 20 Nov 2018 Viewed: 1882 Downloaded: 376 -
Open Access Original ArticlePlasma microRNA profiles identify distinct clinical phenotypes in human asthmatics
Simin Zhang, ... Faoud T. IshmaelThis article belongs to the Special Issue MicroRNAs in Allergic DiseasesJ Transl Genet Genom 2018;2:18.Published on: 7 Nov 2018 Viewed: 1900 Downloaded: 340
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Open Access Topic: MicroRNAs in Allergic Diseases
MicroRNAs in atopic dermatitis: a review
Neeti BhardwajJ Transl Genet Genom 2017;1:15-22.Published on: 17 Nov 2017 Viewed: 5135 Downloaded: 789 -
Open Access Topic: Reversing X Chromosome Inactivation as a New Therapeutic Treatment for X-linked Diseases
Reversal of X chromosome inactivation: lessons from pluripotent reprogramming of mouse and human somatic cells
Irene CantoneJ Transl Genet Genom 2017;1:1-14.Published on: 16 Nov 2017 Viewed: 9886 Downloaded: 825 -
Open Access Review
Novel molecular players of X chromosome inactivation: new technologies and new insights
Piotr Przanowski*, ... Sanchita BhatnagarThis article belongs to the Special Issue Reversing X Chromosome Inactivation as a New Therapeutic Treatment for X-linked DiseasesJ Transl Genet Genom 2018;2:2.Published on: 27 Feb 2018 Viewed: 6173 Downloaded: 736 -
Open Access Editorial
Awakening the sleeping giant: methods for reactivating the inactive X chromosome as clinical treatment for X-linked disorders
Andrea CeraseThis article belongs to the Special Issue Reversing X Chromosome Inactivation as a New Therapeutic Treatment for X-linked DiseasesJ Transl Genet Genom 2018;2:3.Published on: 1 Mar 2018 Viewed: 3752 Downloaded: 576 -
Open Access Review
Parathyroid carcinoma
Jessica Costa-GudaThis article belongs to the Special Issue Genetics and Genomics of CancerJ Transl Genet Genom 2018;2:5.Published on: 22 May 2018 Viewed: 3041 Downloaded: 496 -
Open Access Review
The failure of “engineered rejuvenation”: laboratory genomics do not translate into precision anti-aging therapies
Marios KyriazisThis article belongs to the Special Issue Personalized Genomic Medicine: Challenges and Opportunities for the Diagnosis and the Treatment of Human DiseaseJ Transl Genet Genom 2018;2:7.Published on: 15 Jun 2018 Viewed: 2771 Downloaded: 474 -
Open Access Case ReportDetection of leukocyte adhesion deficiency type 1 in an infant by high-throughput targeted exome sequencing
Sha Hong, ... Tian-Wen ZhuThis article belongs to the Special Issue Personalized Genomic Medicine: Challenges and Opportunities for the Diagnosis and the Treatment of Human DiseaseJ Transl Genet Genom 2018;2:8.Published on: 28 Jun 2018 Viewed: 2981 Downloaded: 287 -
Open Access Review
MERRF and MELAS: current gene therapy trends and approaches
Ciara Ann Agresti, ... Peter ToliasThis article belongs to the Special Issue Personalized Genomic Medicine: Challenges and Opportunities for the Diagnosis and the Treatment of Human DiseaseJ Transl Genet Genom 2018;2:9.Published on: 3 Jul 2018 Viewed: 4926 Downloaded: 352
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Journal of Translational Genetics and Genomics is published by OAE Publishing Inc.
