Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
Clinical and Genetic Landscape of Children With Congenital Muscular Dystrophies From North India.
Basu A et al.
Journal of Child Neurology, 2025
Rare Variation in LMNA Underlies Polycystic Ovary Syndrome Pathogenesis in 2 Independent Cohorts.
Bauer R et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 2024
39379762 (PubMed )
Supplement: 41588_2024_1947_MOESM4_ESM.xlsx › T8
Whole-exome sequencing reveals a likely pathogenic LMNA variant causing hypertrophic cardiomyopathy.
Mahdavi M et al.
Laboratory Medicine, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37808701 (PubMed )
Supplement: media-2.xlsx › T6
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA et al.
American Journal of Human Genetics, 2023
37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S9
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 2023
37795486 (PubMed )
Supplement: Table2.xlsx › Supplement_2
Massively Parallel Sequencing of 43 Arrhythmia Genes in a Selected SUDI Cohort from Cape Town.
Heathfield LJ et al.
Journal of Pediatric Genetics, 2022
Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent "Lone AF" Patients: Results and Insights.
Pessente GD et al.
Frontiers in Cardiovascular Medicine, 2022
35449878 (PubMed )
Supplement: Data_Sheet_1.PDF
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S4
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.
Walsh R et al.
European Heart Journal, 2017
28082330 (PubMed )
Supplement: ehw603_supplementary_tables_s1_s5_s7.xlsx › Table_S7
LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.
Florwick A et al.
Frontiers in Genetics, 2017
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0
30402260 (PubMed )
Supplement: openhrt-2018-000915supp002.xlsx › gnomad_ENSG00000160789_2017_12_
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