More than 15 years have passed since the identification, through linkage, of 'first- wave'susceptibility genes for common cancers (BRCA1, BRCA2, MLH1 and MSH2). These …
AJ Bloom, X Mao, A Strickland, Y Sasaki… - Molecular …, 2022 - Springer
Background In response to injury, neurons activate a program of organized axon self- destruction initiated by the NAD+ hydrolase, SARM1. In healthy neurons SARM1 is …
The genetic causes of many Mendelian disorders remain undefined. Factors such as lack of large multiplex families, locus heterogeneity, and incomplete penetrance hamper these …
JC Ulirsch, JM Verboon, S Kazerounian… - The American Journal of …, 2018 - cell.com
Diamond-Blackfan anemia (DBA) is a rare bone marrow failure disorder that affects 7 out of 1,000,000 live births and has been associated with mutations in components of the …
Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing …
HY Koh, A Haghighi, C Keywan, S Alexandrescu… - Genetics in …, 2022 - Elsevier
Purpose This study aimed to evaluate genetic contributions to sudden unexpected death in pediatrics (SUDP). Methods We phenotyped and performed exome sequencing for 352 …
Background Studies have identified many common genetic associations that influence renal function and all-cause CKD, but these explain only a small fraction of variance in these traits …
Rapid methodological advances in statistical and computational genomics have enabled researchers to better identify and interpret both rare and common variants responsible for …
Introduction: Compared to Genome-Wide Association Studies (GWAS) for common variants, single-marker association analysis for rare variants is underpowered. Set-based association …