Retrieve available abstracts of 8 articles: HTML format
Single Articles
June 2025
LI S, Feng Q, Mei L, Zhang S, et al The gamma-Actin with pathogenic variants of sites on actin-binding proteins caused
earlier onset and more malignant progressive hearing loss.
J Med Genet. 2025 Jun 17:jmg-2024-110573. doi: 10.1136/jmg-2024-110573. PubMedAbstract available
May 2025
LIANG Y, Fang S, Cen X, Wang Y, et al Reclassification of candidate splicing variants refines clinically conflicting
interpretations in SLC26A4-associated hearing loss.
J Med Genet. 2025 May 11:jmg-2024-110425. doi: 10.1136/jmg-2024-110425. PubMedAbstract available
February 2025
HIJIKATA M, Morimoto K, Ito M, Wakabayashi K, et al Robust detection of pathogenic HYDIN variants that cause primary ciliary
dyskinesia using RNA-seq of nasal mucosa.
J Med Genet. 2025;62:180-184. PubMedAbstract available
October 2024
SMITH MJ, Perez-Becerril C, van der Meer M, Burghel GJ, et al Genetic findings in people with schwannomas who do not meet clinical diagnostic
criteria for NF2-related schwannomatosis.
J Med Genet. 2024;61:1011-1015. PubMedAbstract available
August 2024
FORDE C, Smith MJ, Burghel GJ, Bowers N, et al NF2-related schwannomatosis and other schwannomatosis: an updated genetic and
epidemiological study.
J Med Genet. 2024;61:856-860. PubMedAbstract available
June 2024
GOTO K, Koyanagi Y, Akiyama M, Murakami Y, et al Disease-specific variant interpretation highlighted the genetic findings in 2325
Japanese patients with retinitis pigmentosa and allied diseases.
J Med Genet. 2024;61:613-620. PubMedAbstract available
May 2024
THOMAS L, Cuisset L, Papon JF, Tamalet A, et al Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway
motile cilia and variable expressivity in primary ciliary dyskinesia.
J Med Genet. 2024;61:595-604. PubMedAbstract available
March 2024
SMITH CEL, Laugel-Haushalter V, Hany U, Best S, et al Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing
loss and intellectual disability.
J Med Genet. 2024 Mar 8:jmg-2023-109728. doi: 10.1136/jmg-2023-109728. PubMedAbstract available