KinformR provides scoring metrics to evaluate pedigrees and prioritize variants in family-based genetic studies, improving efficiency and accuracy in identifying disease-associated rare variants.

medRxiv · Oct 6, 2025 · PreprintGenetic & Genomic Medicine

G-quadruplexes are a source of vulnerability in BRCA2 deficient granule cell progenitors and medulloblastoma

Danielle Keahi, Mathijs Arnoud Sanders, Matthew Robert Paul, A. L. H. Webster, Yin Fang, Tom F. Wiley, Samer Shalaby, Thomas S. Carroll, Settara C. Chandrasekharappa, Carolina Sandoval-Garcia, Margaret L. MacMillan, John E. Wagner, Mary E. Hatten, Agata Smogorzewska

This study identifies G-quadruplexes as a source of genome instability in BRCA2-deficient granule cell progenitors and medulloblastoma, suggesting PIF1 helicase as a therapeutic target.

Proceedings of the National Academy of Sciences · Aug 25, 2025Peer-reviewedCancer Biology

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

Sharon E. Johnatty, Emma Tudini, Michael T. Parsons, Kyriaki Michailidou, Maria Zanti, Daffodil M. Canson, Aimee L. Davidson, Tamar R. Berger, Rasim Özgür Rosti, Christian Peter Kratz, Reinhard Kalb, Lisa J. McReynolds, Neelam Giri, Marcy E. Richardson, Tina F. Pesaran, , Amanda B. Spurdle

medRxiv · May 25, 2025 · PreprintGenetic & Genomic Medicine

Distinctive Transcriptional and Microbial Signature in Cutaneous Acute Graft-vs-Host-Disease

Najla El Jurdi, Ashraf Shabaneh, Brian Christopher Betts, Armin Rashidi, Margaret L. MacMillan, Mukta Arora, Todd E. DeFor, Daniel D. Miller, Brittney Schultz, Angela Mortari, Daniel Jordan Weisdorf, Jinhua Wang, Shernan G. Holtan

The paper identifies a distinctive transcriptional and microbial signature in cutaneous acute graft-vs-host disease through RNA-sequencing and microbiome analysis of patient samples.

Transplantation and Cellular Therapy · Mar 1, 2022Peer-reviewedGenomics