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The Application of Clinical Genetics
Editor-in-Chief: Martin Henrik Maurer
An international, peer-reviewed, open access, online journal that welcomes laboratory and clinical findings in the field of human genetics.
This journal is a member of and subscribes to the principles of the Committee on Publication Ethics (COPE).
Articles:
- 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)
Latest articles:
- 5 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