The complex and diverse genetic architecture of dilated cardiomyopathy
RE Hershberger, J Cowan, E Jordan… - Circulation …, 2021 - Am Heart Assoc
Our insight into the diverse and complex nature of dilated cardiomyopathy (DCM) genetic
architecture continues to evolve rapidly. The foundations of DCM genetics rest on marked …
architecture continues to evolve rapidly. The foundations of DCM genetics rest on marked …
The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants
HS Smith, B Zettler, CA Genetti… - The American Journal of …, 2024 - cell.com
Efforts to implement and evaluate genome sequencing (GS) as a screening tool for
newborns and infants are expanding worldwide. The first iteration of the BabySeq Project …
newborns and infants are expanding worldwide. The first iteration of the BabySeq Project …
[HTML][HTML] Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity
We used a machine learning approach to analyze the within-gene distribution of missense
variants observed in hereditary conditions and cancer. When applied to 840 genes from the …
variants observed in hereditary conditions and cancer. When applied to 840 genes from the …
[HTML][HTML] Analysis of clinically relevant variants from ancestrally diverse Asian genomes
Asian populations are under-represented in human genomics research. Here, we
characterize clinically significant genetic variation in 9051 genomes representing East …
characterize clinically significant genetic variation in 9051 genomes representing East …
[HTML][HTML] The genetic architecture of pediatric cardiomyopathy
SM Ware, S Bhatnagar, PJ Dexheimer… - The American Journal of …, 2022 - cell.com
To understand the genetic contribution to primary pediatric cardiomyopathy, we performed
exome sequencing in a large cohort of 528 children with cardiomyopathy. Using clinical …
exome sequencing in a large cohort of 528 children with cardiomyopathy. Using clinical …
Genomic autopsy of sudden deaths in young individuals
Importance Postmortem genetic testing of young individuals with sudden death has
previously identified pathogenic gene variants. However, prior studies primarily considered …
previously identified pathogenic gene variants. However, prior studies primarily considered …
[HTML][HTML] Effect of race and ethnicity on risk of radiotherapy toxicity and implications for radiogenomics
OAI Abdelkarem, A Choudhury, NG Burnet… - Clinical Oncology, 2022 - Elsevier
Aims Patient factors affect the risk of radiotherapy toxicity, but many are poorly defined.
Studies have shown that race affects cancer incidence, survival, drug response, molecular …
Studies have shown that race affects cancer incidence, survival, drug response, molecular …
Arrhythmia variant associations and reclassifications in the eMERGE-III sequencing study
AM Glazer, G Davogustto, CM Shaffer, CG Vanoye… - Circulation, 2022 - Am Heart Assoc
Background: Sequencing Mendelian arrhythmia genes in individuals without an indication
for arrhythmia genetic testing can identify carriers of pathogenic or likely pathogenic (P/LP) …
for arrhythmia genetic testing can identify carriers of pathogenic or likely pathogenic (P/LP) …
Opposing effects of genetic variation in MTCH2 for obesity versus heart failure
Genetic variation in genes regulating metabolism may be advantageous in some settings
but not others. The non-failing adult heart relies heavily on fatty acids as a fuel substrate and …
but not others. The non-failing adult heart relies heavily on fatty acids as a fuel substrate and …
Prevalence of mutations in Mendelian stroke genes in early onset stroke patients
HK Park, KJ Lee, JM Park, K Kang, SJ Lee… - Annals of …, 2023 - Wiley Online Library
Objective Heritability of stroke is assumed not to be low, especially in the young stroke
population. However, most genetic studies have been performed in highly selected patients …
population. However, most genetic studies have been performed in highly selected patients …