Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL21__PON_in_red_
Systems genetics analysis defines importance of TMEM43/LUMA for cardiac- and metabolic-related pathways.
Gu Q et al.
Physiological Genomics, 2022
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S12
Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy?
Arbustini E et al.
Journal of the American College of Cardiology, 2016
Integrated genomics approach to identify biologically relevant alterations in fewer samples.
Chandrani P et al.
Bmc Genomics, 2015
26572163 (PubMed )
Supplement: 12864_2015_2138_MOESM2_ESM.zip › Pratik_et_al_SI_TableS6_20150910.xlsx › Sheet1
The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus.
Milting H et al.
European Heart Journal, 2015
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.
Baskin B et al.
Human Genetics, 2013
Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada.
Haywood AF et al.
European Heart Journal, 2013
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