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Volume 14;  2021

Reviews

Challenges of Genomic Testing for Hereditary Breast and Ovarian Cancers
Lindsey McAlarnen, Kristen Stearns, Denise Uyar
Appl Clin Genet. 2021; 14: 1–9. Published online 2021 Jan 14. doi: 10.2147/TACG.S245021
PMCID:
PMC7814235
Article PubReader PDF–304KCite
Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance
Melissa C Keinath, Devin E Prior, Thomas W Prior
Appl Clin Genet. 2021; 14: 11–25. Published online 2021 Jan 25. doi: 10.2147/TACG.S239603
PMCID:
PMC7846873
Article PubReader PDF–1.6MCite
The Gluten Gene: Unlocking the Understanding of Gluten Sensitivity and Intolerance
Nastaran Asri, Mohammad Rostami-Nejad, Robert P Anderson, Kamran Rostami
Appl Clin Genet. 2021; 14: 37–50. Published online 2021 Feb 11. doi: 10.2147/TACG.S276596
PMCID:
PMC7886246
Article PubReader PDF–2.5MCite
Y-Chromosome Microdeletions: A Review of Prevalence, Screening, and Clinical Considerations
Matthew J Rabinowitz, Phillip J Huffman, Nora M Haney, Taylor P Kohn
Appl Clin Genet. 2021; 14: 51–59. Published online 2021 Feb 12. doi: 10.2147/TACG.S267421
PMCID:
PMC7886244
Article PubReader PDF–604KCite
Genetic Factors Underlying Sudden Infant Death Syndrome
Christine Keywan, Annapurna H Poduri, Richard D Goldstein, Ingrid A Holm
Appl Clin Genet. 2021; 14: 61–76. Published online 2021 Feb 15. doi: 10.2147/TACG.S239478
PMCID:
PMC7894824
Article PubReader PDF–425KCite
Updates on Genes and Genetic Mechanisms Implicated in Primary Angle-Closure Glaucoma
Altaf A Kondkar
Appl Clin Genet. 2021; 14: 89–112. Published online 2021 Mar 9. doi: 10.2147/TACG.S274884
PMCID:
PMC7955727
Article PubReader PDF–1.5MCite
Identifying Potential Mutations Responsible for Cases of Pulmonary Arterial Hypertension
Emmanuel Eroume-A Egom, Roger Moyou-Somo, Jean Louis Essame Oyono, Rene Kamgang
Appl Clin Genet. 2021; 14: 113–124. Published online 2021 Mar 11. doi: 10.2147/TACG.S260755
PMCID:
PMC7958998
Article PubReader PDF–1.8MCite
Genetic and Proteomic Contributions to the Pathophysiology of Moyamoya Angiopathy and Related Vascular Diseases
Kirsten B Dorschel, John E Wanebo
Appl Clin Genet. 2021; 14: 145–171. Published online 2021 Mar 18. doi: 10.2147/TACG.S252736
PMCID:
PMC7987310
Article PubReader PDF–6.7MCite
Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum
Susana Seixas, Patricia Isabel Marques
Appl Clin Genet. 2021; 14: 173–194. Published online 2021 Mar 22. doi: 10.2147/TACG.S257511
PMCID:
PMC7997584
Article PubReader PDF–3.4MCite

Original Research

A Novel Allele-Specific PCR Protocol for the Detection of the HLA-C*03:02 Allele, a Pharmacogenetic Marker, in Vietnamese Kinh People
Tran Thu Ha Pham, Quang Binh Tran, Chonlaphat Sukasem, Van Dinh Nguyen, Chi Hieu Chu, Thi Quynh Nga Do, Ngoc Phuong Mai Tran, Thanh Huong Phung
Appl Clin Genet. 2021; 14: 27–35. Published online 2021 Feb 9. doi: 10.2147/TACG.S278652
PMCID:
PMC7881795
Article PubReader PDF–1.8MCite
A Novel Frameshift Mutation, Deletion of HBB:c.199_202delAAAG [Codon 66/67 (-AAAG)] in β-Thalassemia Major Patients from the Western Region of Uttar Pradesh, India
Waseem Chauhan, Mohammad Afzal, Zeeba Zaka-ur-Rab, Md Salik Noorani
Appl Clin Genet. 2021; 14: 77–85. Published online 2021 Mar 1. doi: 10.2147/TACG.S294891
PMCID:
PMC7935337
Article PubReader PDF–4.6MCite
The Effect of Teratozoospermia on Sex Chromosomes in Human Embryos
Dalia Mostafa Nayel, Hanan Salah El Din Mahrous, Emad El Din Khalifa, Soha Kholeif, Ghada Mohamed Elhady
Appl Clin Genet. 2021; 14: 125–144. Published online 2021 Mar 11. doi: 10.2147/TACG.S299349
PMCID:
PMC7959001
Article PubReader PDF–2.4MCite

Expression of Concern

Greig Cephalopolysyndactyly (GCPS) Contiguous Gene Syndrome in a Boy with a 14 Mb Deletion in Region 7p13-14 Caused by a Paternal Balanced Insertion (5; 7) [Expression of Concern]
Appl Clin Genet. 2021; 14: 87. Published online 2021 Mar 5. doi: 10.2147/TACG.S307411
Expression of Concern about:
Appl Clin Genet. 2008; 1: 19–22.
PMCID:
PMC7943538
Article PubReader PDF–166KCite
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