@wcrismani.bsky.social
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wcrismani.bsky.social
A huge thank you to the families and participants who made this research possible—your contributions are invaluable. And of course, shout out to Hannah Hovermale, Elissah Granger, and Michael Sharp for their hard work on this project, all collaborators and St Vincent's Institute of Medical Research
wcrismani.bsky.social
We found evidence suggesting that FA is under-diagnosed in Australia, and more testing identifies more cases, and that males are more likely to be tested than females. The reasons behind these observations are unclear and deserve further investigation.
wcrismani.bsky.social
I feel incredibly privileged to share this study on Fanconi anaemia, based on a small but important cohort. This work describes the genetics and clinical outcomes of patients in Australia and New Zealand with a diagnosis of FA.

www.sciencedirect.com/science/arti...
Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand
Fanconi anemia (FA) is a rare genetic condition that predisposes to progressive bone marrow failure, a specific spectrum of malignancies, including he…
www.sciencedirect.com
Reposted
piotraz.bsky.social
🚀 Our collaborative work with @monica-pradillo.bsky.social, "Genetic dissection of MutL complexes in Arabidopsis meiosis," is now published in NAR! 🌱 doi.org/10.1093/nar/...
🔬 We show that MutLγ is crucial for ZMM-dependent crossovers, with MUS81 unable to fully compensate for its loss.
Genetic dissection of MutL complexes in Arabidopsis meiosis
Abstract. During meiosis, homologous chromosomes exchange genetic material through crossing over. The main crossover pathway relies on ZMM proteins, includ
doi.org
wcrismani.bsky.social
Beyond advancing our understanding of recombination biology, this approach also opens the door to applications in detecting fertility-related issues and identifying genetic conditions at the single-cell level. Exciting to see where this will lead in the next stage of the project!
A high-resolution meiotic crossover map from single-nucleus ATAC-seq reveals insights into the recombination landscape in mammals
Abstract. Meiotic crossovers promote correct chromosome segregation and the shuffling of genetic diversity. However, the measurement of crossovers remains
academic.oup.com
wcrismani.bsky.social
Thrilled to share our latest work on meiotic recombination, where we mapped rates and distributions by sequencing thousands of individual sperm. This study was led by Stevan Novakovic and @caitlinharris.bsky.social , in collaboration with @davisjmcc.bsky.social and Cynthia Liu.
wcrismani.bsky.social
Paper accepted! Shout out to co-first authors Hannah Fluhler, Elissah Granger and Michael Sharp.
Reposted
hunterlab.bsky.social
Registration now open for the 2025 EMBO workshop on Meiosis! June 22-26, 2025, Engelberg, Switzerland.
Deadline for abstract submissions and registration is Feb 15th, 2025. Lots of speaker slots will be selected from abstracts, so apply now! meetings.embo.org/event/25-mei...
Meiosis: Exploring diversity to discover the fundamentals
Meiosis is an essential cell division for sexual reproduction and fertility across eukaryotes. It involves a series of tightly regulated processes, including entry into meiosis, pairing of homologs, …
meetings.embo.org
wcrismani.bsky.social
Thanks to the team for a great year and a very chilled end of year lunch in Carlton gardens.
wcrismani.bsky.social
Congratulations to Shiella Amelia Soetomo on completing an excellent Masters thesis on developing tools to measure synthetic lethality. Shout out to co-supervisor Michael Sharp!