Genetics
These journals cover all areas of genetics from the lab to the clinic and from clinical syndromes to the therapeutic applications of genes and stem cells.
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Recent articles:
Clinical Feasibility of Early First-Trimester Non-Invasive Prenatal Testing: Associations Between Gestational Age, Fetal Fraction, and No-Call Rates
Son TT, Tien ST, Khoa TV, Ho HS, Thi Thu HL, Nguyen NN, Son DT, Van PN, Pham MD, Doan HT
The Application of Clinical Genetics 2026, 19:599716
Published Date: 29 April 2026
Outcomes and Management of Pregnancies Screening Positive for Microdeletions 22q11.2, 15q11.2, 1p36, 4p, or 5p: A Retrospective Cohort Study
Miller DC, Chawla D, Pierson S, Johansen Taber K
The Application of Clinical Genetics 2026, 19:591410
Published Date: 16 April 2026
Massive Hepatocellular Carcinoma with Insufficient Future Liver Remnant Achieved Complete Response After Two-Stage Hepatectomy Combined with Hepatic Arterial Infusion Chemotherapy and Lenvatinib-sintilimab: A Case Report
Xu R, Zhang M, Zeng Z, Wei Y, Liao X, Yang C, Peng T, Su H
Pharmacogenomics and Personalized Medicine 2026, 19:578577
Published Date: 7 April 2026
Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder
Górecki M, Jaszczuk I, Lejman M
The Application of Clinical Genetics 2026, 19:549665
Published Date: 2 April 2026
Construction and Validation of Multi-Omics Predictive Models for Colorectal Cancer Using Machine-Learning Approaches
Lu Z, Li X, Liang Z, Zhang X, Tan Y, Kuang Y, Li K, Zhu X
Pharmacogenomics and Personalized Medicine 2026, 19:566928
Published Date: 2 April 2026
Prenatal Ultrasound and Genetic Diagnosis of EFTUD2 Haploinsufficiency in Two Fetuses: A Case Series
Kucińska A, Dudarewicz L, Nowakowska BA, Geremek M, Wysocka U, Przesór Ł, Barańska D, Grzelak P, Gach A
The Application of Clinical Genetics 2026, 19:579472
Published Date: 27 March 2026
NAT2 Acetylation Phenotypes in India: A Narrative Review of Personalized TB Therapy
Khan N, Jonnalagadda M, Kumar R, Das A
Pharmacogenomics and Personalized Medicine 2026, 19:568037
Published Date: 10 March 2026
Case Report: Schaaf-Yang Syndrome Milder Phenotype Due to Potential Pathogenic Novel Missense Variant as an Unusual Cause of Obesity in a Pediatric Patient
Pastucha D, Aleksijevic D, Hyjanek J, Vesely O, Klaskova E, Kolarikova K, Vodicka R
The Application of Clinical Genetics 2026, 19:584482
Published Date: 9 March 2026
Hearing, Voice and Speech Disorders in 10-Year-Old-Boy with Facio-Scapulo-Humeral Dystrophy (FSHD) – Case Study
Duchnowska E, Kosztyła-Hojna B, Zdrojkowski M, Burton-Jones S, Kułak W
The Application of Clinical Genetics 2026, 19:574913
Published Date: 7 March 2026
TNF-α rs1800629 Polymorphism in Vietnamese COPD Patients: Exploratory Evidence for Recessive Protective Association and Clinical Correlates
Nguyen HM, Le DHH, Ho TTH, Nguyen PDHA, Nguyen TH, Phan VNT, Nguyen THN
The Application of Clinical Genetics 2026, 19:586977
Published Date: 23 February 2026
Bioinformatic Identification and Preliminary Validation of TP53, TGFB1, and NFE2L2 as Potential Ferroptosis-Related Regulators in Pancreatic Adenocarcinoma
Li S, Zhang C, Lv S, Zhang Z, Xu D, Xu T
Pharmacogenomics and Personalized Medicine 2026, 19:562602
Published Date: 17 February 2026
Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to a Pathogenic LMNA Variant R482: Maternal Transmission to Non-Identical Twins
Duque-Cordoba PA, Diaz-Ordoñez L, Carvajal-del-Castillo L, Marmolejo D, Leal AF, Pachajoa H
The Application of Clinical Genetics 2026, 19:570428
Published Date: 13 February 2026
Routine Excision, Rare Diagnosis: Solitary Neurofibroma Prompting NF1 Screening in an Adolescent
Alquaimi MM
The Application of Clinical Genetics 2026, 19:549653
Published Date: 6 February 2026
Post-Translational Modifications of Histones and Non-Histones in Liver Disease and Traditional Chinese Medicine Treatment: A Narrative Review
Xie Z, Deng Y, Zhang X, Chen J, Deng J, Fang Y, Ye X, Zhou Z
Pharmacogenomics and Personalized Medicine 2026, 19:555701
Published Date: 3 February 2026
Clinical Outcomes of Osimertinib Combined with Platinum-Based Chemotherapy in EGFR-Mutant Non-Small Cell Lung Cancer: A Retrospective Study
Han R, Yu X
Pharmacogenomics and Personalized Medicine 2026, 19:566952
Published Date: 3 February 2026
Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement
Zheng G, Xu C, Xie F, Li Q, Ou Z, Wang D, Li H
The Application of Clinical Genetics 2026, 19:573156
Published Date: 22 January 2026
Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal Diagnosis
Wysocka U, Stępniewska J, Kozłowska M, Kucińska A, Banaś-Leżańska P, Ałaszewski W, Dudarewicz L, Kaczmarek P, Grzesiak MS, Gach A
The Application of Clinical Genetics 2026, 19:567210
Published Date: 14 January 2026
A Novel Exon Duplication in the SACS Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish Cases
Fichna JP, Elert-Dobkowska E, Radziwonik-Fraczyk W, Ziora-Jakutowicz K, Wężyk MM, Berdyński M, Zaremba J, Żekanowski C, Bednarska-Makaruk M
The Application of Clinical Genetics 2025, 18:283-290
Published Date: 24 December 2025
Association of Y Chromosome Microdeletions with Reproductive Profiles in 2010 Infertile Male Patients in China
Chen G, Huang P, Li H, Zheng B, Sun Y
The Application of Clinical Genetics 2025, 18:275-282
Published Date: 23 December 2025
Partial Monosomy 21q Due to De Novo t(15;21)(q26.3;q22.11): A Case Report with Clinical and Molecular Findings
Nojehdeh ST, Fattahi T, Arish S, Mokabber H, Nobakht R, Davarnia S, Davarnia B
The Application of Clinical Genetics 2025, 18:267-274
Published Date: 19 December 2025
Managing Refractory Hypertension: A Case Study Exploring the Influence of ACE and ACTN3 Gene Polymorphisms
Gasser B, Dössegger A, Flück M
Pharmacogenomics and Personalized Medicine 2025, 18:287-294
Published Date: 19 December 2025
Case Report: Successful Surgical Resection of PVTT Vp4 Hepatocellular Carcinoma Following Hepatic Arterial Infusion Chemotherapy Combined with Cadonilimab Plus Donafenib
Chen S, Wei Y, Liao X, Yang C, Zhu G, Han C, Su H, Peng T
Pharmacogenomics and Personalized Medicine 2025, 18:279-286
Published Date: 6 December 2025
The Prognostic Value of Integrating Copy Number Alteration Profiles in NPM1-Mutated Acute Myeloid Leukemia: An Exploratory Study
Zhang C, Gao L, Gong M, Liu C, Zhang D, Li Z
The Application of Clinical Genetics 2025, 18:251-266
Published Date: 4 December 2025
Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy
Yuan Q, Liu C, Lu Y, Han X, Wang Z, Yuan Y, Xie Z
The Application of Clinical Genetics 2025, 18:243-249
Published Date: 25 November 2025
Berberine Repairs Intestinal Mucosal Barrier by Targeting HSP90AA1 and MAPK14
Zhao D, Zhai Y, Chen C, Chen J, Chen D, Yang Q, Yu Z, Shao S, Huang Y, Shu J
Pharmacogenomics and Personalized Medicine 2025, 18:263-278
Published Date: 15 November 2025
The Masked Thalassemia: A Rare Case of a Patient with Normal HbA2 Levels, β-Thalassemia Pathogenic Variant (CD39 C>T), and a Novel δ-Globin Gene Deletion
Chetta M, Salamandra A, Tarsitano M, D’Antonio M, Sannino E, Torre S, Fatigati C, Costantini S, D’Ambrosio P, Priolo M, Ricchi P
The Application of Clinical Genetics 2025, 18:233-241
Published Date: 12 November 2025
Non-Invasive Prenatal Testing in the Kingdom of Saudi Arabia: Current Status of Adoption and Roadmap for the Future
Alfadhel M, AlHashem A, Kurdi W, Tulbah M, AlGamdi S, Almannai M, AlAmoudi I, AlEissa MM, AlAgil N, Tashkandi S, Awad N, Ojeil R
The Application of Clinical Genetics 2025, 18:219-231
Published Date: 27 October 2025
Intragenic TTN Deletions in a Single Family with Dilated Cardiomyopathy
Wayhelova M, Peldova P, Krebsova A, Nemcikova M, Sojka M, Macek M
The Application of Clinical Genetics 2025, 18:211-217
Published Date: 17 October 2025
Genetic Landscape of VIP Pharmacogenomic Variants in the Kinh Vietnamese Population
Tong H, Phan VTN, Nguyen T, Le L
Pharmacogenomics and Personalized Medicine 2025, 18:251-261
Published Date: 14 October 2025
Familial 3M Syndrome – as an Example of Diagnostic Difficulties in Rare Genetic Syndromes
Pasińska M, Rusecka JM, Sobczyńska-Tomaszewska A, Pasiński M
The Application of Clinical Genetics 2025, 18:199-210
Published Date: 4 October 2025
Exome Sequencing Analysis and Clinical Features of a Chinese Patient with 3M Syndrome and A Review of Literature
Chen XL, Zheng DS, Shen YF, Lin ZL, Chen SQ, Xiao XM
The Application of Clinical Genetics 2025, 18:189-197
Published Date: 2 October 2025
Whole Exome Sequencing Reveals Novel Genetic Variants Associated with Atrial Septal Defect in a Tibetan Patient Cohort
Li H, He Y, Cai Z, Che Q, Wu Y, Zhou M, He Z, Zhao L
Pharmacogenomics and Personalized Medicine 2025, 18:239-250
Published Date: 10 September 2025
Hemizygous IL2RG Variants Impair IL-2-Induced STAT5 Phosphorylation and Transcriptional Activity Causing X-Linked Severe Combined Immunodeficiency
Zhang N, Sang YL, Zhu W, Wang YR, Yu YY, Chen YH, Du J, He WB, Tan YQ, Wang FY
The Application of Clinical Genetics 2025, 18:175-187
Published Date: 6 September 2025
Ulcerative Colitis: Advances in Pathogenesis, Biomarkers, and Therapeutic Strategies
Bu S, Cheng X, Chen M, Yu Y
Pharmacogenomics and Personalized Medicine 2025, 18:219-238
Published Date: 5 September 2025
Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family
Bernal-Bonilla IT, Arias-Florez JS, Ramirez SX, Bayona-Gomez BA, Castro-Castillo L, Correa-Martinez V, Sanchez-Gomez Y, Santiago-Tovar N, Gaviria-Sabogal CC, Contreras Bravo NC, Cabrera R, Morel A, Fonseca-Mendoza DJ, Restrepo CM
The Application of Clinical Genetics 2025, 18:165-173
Published Date: 4 September 2025
Association Between ABCB1 Gene Polymorphism with Hyperglycemia and MACE in Patients Undergoing Clopidogrel Treatment After PCI
Zhou B, Shi C, Xu Q, Wei Y, Zhang S, Wang X, An X
Pharmacogenomics and Personalized Medicine 2025, 18:209-217
Published Date: 25 August 2025
The Prevalence of Potential Drug-Drug-Gene Interactions: A Descriptive Study Using Swiss Claims Data
Wittwer NL, Meier CR, Huber CA, Moser JD, Meyer zu Schwabedissen HE, Allemann SS, Schneider C
Pharmacogenomics and Personalized Medicine 2025, 18:197-208
Published Date: 23 August 2025
Dual EGFR L858R and KRAS G12A Mutations in Lung Adenocarcinoma: A Rare Case Report and Literature Review
Wei G, Tang J, Wang H, Zhang D
Pharmacogenomics and Personalized Medicine 2025, 18:189-196
Published Date: 22 August 2025
Differential Responses to Targeted Therapies in Non-Small Cell Lung Cancer: A Comparative Analysis of Outcomes in Patients with Single EGFR Mutation and Concurrent Gene Alterations
Le LT, Nguyen NV, Trinh HL, Van Le Q, Dao THT, Nguyen Ngoc S, Van LD, Thi Nguyen T
The Application of Clinical Genetics 2025, 18:153-164
Published Date: 31 July 2025
Construction of a Nomogram Model for Predicting Prognosis in Breast Cancer Patients Based on the Expression of THRSP and ACACA Proteins Tissues
Wei B, Li F, Yan H, Shen J
Pharmacogenomics and Personalized Medicine 2025, 18:179-188
Published Date: 31 July 2025
A Unique Complex Variation Profile in a Patient with Familial Mediterranean Fever (FMF): Triple Homozygous E148Q-P369S-R408Q – “Case Report”
Abi Chakra N, Yazbeck N, Fattah MO, Hanna-Wakim R
The Application of Clinical Genetics 2025, 18:147-152
Published Date: 29 July 2025
Long-Term Donor Chimerism Monitoring for Relapse Risk Assessment After Pediatric Allo-HSCT
Prażmo A, Skowera P, Zaucha-Prazmo A, Lejman M
The Application of Clinical Genetics 2025, 18:131-146
Published Date: 24 July 2025
The Impact of FSHR Polymorphisms (rs6165 and rs6166) on Ovarian Response to Stimulation in Infertile Women with Diminished Ovarian Reserve
Hoang TTT, Trinh ST, Nguyen NN, Ho MN, Pham MD, Hoang NT, Trieu ST, Ho HS
The Application of Clinical Genetics 2025, 18:119-129
Published Date: 12 July 2025
Coexistence of Hereditary Hemorrhagic Telangiectasia and Moyamoya Disease: A Case Report Highlighting a Potential Genetic Synergy
Liu S, Meng L, Wan Y, Liu S, Shi L
The Application of Clinical Genetics 2025, 18:113-117
Published Date: 10 July 2025
Advances in the Clinical Use of Clopidogrel: A Review of Individualized Treatment Strategies and Monitoring Optimization Based on Genetic Polymorphisms
Dou N, Ma H, Zhang P, Lu R, Hang J, Sun J
Pharmacogenomics and Personalized Medicine 2025, 18:163-177
Published Date: 9 July 2025
A Systematic Review of SNPs Screening for Platinum-Related Pharmacodynamics and Pharmacokinetics Genes in Non-Small Cell Lung Cancer for Precision Medicine
Afifah NN, Larasati AL, Wijaya I, Zakiyah N, Intania R, Obinata H, Barliana MI
The Application of Clinical Genetics 2025, 18:93-112
Published Date: 27 June 2025
Molecular Genetic Analysis of a DMD Frameshift Mutation in a Boy with Duchenne Muscular Dystrophy by MLPA and Sanger Sequencing
Chen Q, Zhang W, Zha L
Pharmacogenomics and Personalized Medicine 2025, 18:153-162
Published Date: 17 June 2025
Genetic Polymorphisms and QF-PCR Performance Evaluation of 20 Autosomal STR Loci on Chromosomes 13, 18, and 21 in Prenatal Diagnosis Among East Chinese Han Population
Liu Y, Xue J, Yan L, Chen C, Zhao S, Li H
The Application of Clinical Genetics 2025, 18:81-91
Published Date: 12 June 2025
Novel, Reproducible, Consortia Factors Derived from Adipose Stem Cells for Burn Wound Treatment
Talavera-Adame D, Palomares M, Plaza MR, Rogowski N, Lee BS, Zemach A, Newman N
Stem Cells and Cloning: Advances and Applications 2025, 18:63-72
Published Date: 6 June 2025
Intramuscular Vitamin B12 Treatment in Transcobalamin II Deficiency: Case Series Clinical Outcomes
Sawlan AM, Alotaibi M, Alharbi RM, Alwahbi NA, Alshammary M, Alasmari AM, Al Mutairi F
The Application of Clinical Genetics 2025, 18:73-80
Published Date: 5 June 2025