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The Application of Clinical Genetics
- View all (349)
- Volume 19, 2026 (11)
- Volume 18, 2025 (26)
- Volume 17, 2024 (23)
- Volume 16, 2023 (20)
- Volume 15, 2022 (16)
- Volume 14, 2021 (37)
- Volume 13, 2020 (23)
- Volume 12, 2019 (30)
- Volume 11, 2018 (23)
- Volume 10, 2017 (12)
- Volume 9, 2016 (22)
- Volume 8, 2015 (24)
- Volume 7, 2014 (23)
- Volume 6, 2013 (12)
- Volume 5, 2012 (13)
- Volume 4, 2011 (14)
- Volume 3, 2010 (15)
- Volume 2, 2009 (2)
- Volume 1, 2008 (3)
Journal Articles:
- 349 records -
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
A Novel EBP c.452A>G Mutation Identified in a Girl with Conradi–Hünermann–Happle Syndrome Presenting with Hydronephrosis
Qiao F, Zeng H, Zhang C, Wang Y, Wang Y, Zhou R, Meng L, Hu P, Xu Z
The Application of Clinical Genetics 2025, 18:63-72
Published Date: 14 May 2025
The Frequency of CYP2C19*2 Gene Polymorphisms in Burkina Faso Patients Treated with Clopidogrel
Kagambèga YD, Ouattara AK, Ouédraogo TWC, Traoré L, Yaméogo NV, Simpore J
The Application of Clinical Genetics 2025, 18:55-61
Published Date: 1 May 2025
NIPT of Maternal Plasma-Originated cfDNA: Applications and Guide for the Implementation
Fernández Martínez FJ, Gil Mira MM, González González C, Madrigal Bajo I, Oancea Ionescu R, Orellana Alonso C
The Application of Clinical Genetics 2025, 18:41-53
Published Date: 26 April 2025
Survey of Structural Autosomal Abnormalities and Autosomal Variants in Infertile Patients Treated at Some IVF Centers in Vietnam
Trieu ST, Pham MD, Le H, Vo HV, Nguyen PV, Tran TV, Nguyen NN, Trinh ST
The Application of Clinical Genetics 2025, 18:29-40
Published Date: 11 April 2025
Associations of Karyotype and Age at Diagnosis with Physical Features and Comorbidities in Turner Syndrome: A Single-Site Experience
Vida B, Török O, Felszeghy E, Orosz M, Krasznai ZT, Tándor Z, Jakab A, Deli T
The Application of Clinical Genetics 2025, 18:9-27
Published Date: 14 February 2025
Vascular Pathology in Alpha 1 Antitrypsin Deficient Chronic Obstructive Pulmonary Disease and Emphysema Patients: Case Reports
Gordon M, Gangemi AJ, Sandwith EL, Kumaran M, Kueppers F
The Application of Clinical Genetics 2025, 18:1-7
Published Date: 28 January 2025
First Report from Saudi Arabia of Trimethylaminuria Caused by a Premature Stop Codon Mutation in the FMO3 Gene
Alghanem B, Alamri HS, Barhoumi T, Ali Khan I, Almuhalhil K, Aloyouni E, Shaibah H, Mashhour A, Algheribe S, Islam I, Boudjelal M, Alfadhel M
The Application of Clinical Genetics 2024, 17:215-228
Published Date: 31 December 2024
Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing
Kałużewski T, Pinkier I, Wysocka U, Sałamunia J, Kępczyński Ł, Piotrowicz M, Kałużewski B, Gach A
The Application of Clinical Genetics 2024, 17:205-214
Published Date: 21 December 2024
Bilateral Wilms Tumor - Case Report of a Patient with Family History
Rdzanek O, Najda P, Parysek-Wójcik K, Pytlik A, Lejman M, Zawitkowska J
The Application of Clinical Genetics 2024, 17:199-203
Published Date: 16 December 2024
Pathway of LCK Tyrosine Kinase and mTOR Signaling in Children with T-Cell Acute Lymphoblastic Leukemia
Rocka A, Suchcicka M, Jankowska AM, Woźniak MM, Lejman M
The Application of Clinical Genetics 2024, 17:187-198
Published Date: 20 November 2024
Comparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss
Zheng Z, Yan L, Ding L, Zhang Y, Wang M, Yang Y, Wu J, Chen C, Tang M, Li H
The Application of Clinical Genetics 2024, 17:171-186
Published Date: 8 November 2024
Association of RIPK1 and RIPK2 Gene Polymorphisms with Rheumatoid Arthritis in a Chinese Han Population
Lv S, Li Y, Sun B, Jing Y, Wang X, Gu Z, Wang B, Xiao C
The Application of Clinical Genetics 2024, 17:159-169
Published Date: 19 October 2024
Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study
Alshamlani LK, Alsulaim DS, Alabbad RS, Alhoshan AA, Alkhoder JF, Alsaleh NS, Almannai M, Ababneh F, Algattan M, Alsini L, Alswaid AF, Eyaid WM, Al Mutairi F, Umair M, Alfadhel M
The Application of Clinical Genetics 2024, 17:151-158
Published Date: 3 October 2024
The Ser434Phe Androgen Receptor Gene Mutation Does Not Affect Fertility but is Associated with Increased Prolactin
Saadeh NA, Obeidat M, Shboul M
The Application of Clinical Genetics 2024, 17:143-149
Published Date: 26 September 2024
Class II Transactivator Gene (CIITA) Variants Associated with Bare Lymphocyte Syndrome II in a Female Sudanese Patient
Salih OAMM, Erwa NHH, Abdelmoneim AH, Fadl HAO, Glanzmann B, Osman MAB, Osman MAH, Gasim TME, Mustafa A
The Application of Clinical Genetics 2024, 17:133-141
Published Date: 23 September 2024
Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache [Corrigendum]
Sánchez-Espino LF, Ivars M, Antoñanzas J, Baselga E
The Application of Clinical Genetics 2024, 17:131-132
Published Date: 12 August 2024
A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied
Zhang S, Ma Y, Zang X, Heng H, Liu X, Peng G, Liu R, Liang J, Geng H
The Application of Clinical Genetics 2024, 17:125-130
Published Date: 16 July 2024
Rare Case of de Novo 2p15 Microdeletion Syndrome with Deletion Covering XPO1 and USP34 Genes Diagnosed in a Child – A Case Report
Ręka G, Wojciechowska K, Lejman M
The Application of Clinical Genetics 2024, 17:117-124
Published Date: 15 July 2024
Comparison of the Accuracy in Provisional Diagnosis of 22q11.2 Deletion and Williams Syndromes by Facial Photos in Thai Population Between De-Identified Facial Program and Clinicians
Khongthon N, Theeraviwatwong M, Wichajarn K, Rojnueangnit K
The Application of Clinical Genetics 2024, 17:107-115
Published Date: 4 July 2024