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American Journal of Human Genetics|February 2, 2024
Insights into the mechanisms and structure of breakage-fusion-bridge cycles in cervical cancer using long-read sequencingIsabel Rodriguez, Nicole M Rossi, Ayse G Keskus, et al.
American Journal of Human Genetics|January 19, 2024
The shared ancestry between the C9orf72 hexanucleotide repeat expansion and intermediate-length alleles using haplotype sharing trees and HAPTKOsma S Rautila, Karri Kaivola, Harri Rautila, et al.
American Journal of Human Genetics|January 25, 2024
CRISPR activation to characterize splice-altering variants in easily accessible cellsThorkild Terkelsen, Nanna Steengaard Mikkelsen, Ebbe Norskov Bak, et al.
American Journal of Human Genetics|April 5, 2024
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetaseAmy G Jones, Matilde Aquilino, Rory J Tinker, et al.
American Journal of Human Genetics|March 19, 2024
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivationShreyas Bhat, Justine Rousseau, Coralie Michaud, et al.
American Journal of Human Genetics|March 21, 2024
Biobank-scale inference of multi-individual identity by descent and gene conversionSharon R Browning, Brian L Browning
American Journal of Human Genetics|April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
American Journal of Human Genetics|March 12, 2024
Investigating the potential of single-cell DNA methylation data to detect allele-specific methylation and imprintingNicholas D Johnson, David J Cutler, Karen N Conneely
American Journal of Human Genetics|October 2, 2024
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUSXiaoyu Yin, Marcy Richardson, Andreas Laner, et al.
American Journal of Human Genetics|September 27, 2024
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variantsLu Qiao, Carrie L Welch, Rebecca Hernan, et al.
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