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September 20, 2025 | bioRxiv
Dudley Lab

Functional Profiling of 2,193 ASS1 Missense Variants: Insights into Variant Pathogenicity and Epistatic Interactions in Citrullinemia Type I

Russell S Lo, Gareth Cromie, Michelle Tang, Amy Sirr, Ljubica Caldovic, Hiroki Morizono, Nicholas Ah Mew, Andrea Gropman, Aimee M Dudley

August 12, 2025 | medRxiv
Carvalho Lab

Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon

Ming Yin Lun, Jennifer E Posey, Jesse D Bengtsson, Haowei Du, Rituparna Sinha Roy, Lei Yang, Sebastian Ochoa, Bo Yuan, Maddie Gillentine, Anna Lindstrand, Claudia MB Carvalho

August 3, 2025 | bioRxiv
Carvalho Lab

Pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics

Chaofan Zhang, Rituparna Sinha Roy, Ming Yin Lun, Juliana F. Mazzeu, Janson White, Wu-Lin Charng, Nathaniel Peters, Jonas A. Gustafson, Harshini Iyer, Zain Dardas, Hyun Kyoung Lee, V. Reid Sutton, James R. Lupski, Claudia M.B. Carvalho

July 17, 2025 | PLoS Genetics
Dudley Lab

Expectations for papers performing Mendelian randomization analyses

Scott M Williams, Hua Tang, Gregory M Cooper, Anne O’Donnell-Luria, Santhosh Girirajan, Aimée M Dudley, Anne Goriely, Zoltán Kutalik, Xiaofeng Zhu, Giorgio Sirugo, Michael P Epstein

July 1, 2025 | Disease Models & Mechanisms
Dudley Lab

A hypomorphic model of CPS1 deficiency for investigating the effects of hyperammonemia on the developing nervous system

Stuti Bakshi, Taryn Diep, Brandon J Willis, Rachel Reyes, Grace F Wu, Georgios Makris, Martin Poms, Isabel Day, Qin Sun, Irina Zhuravka, Lindsay Lueptow, Michelle Tang, Gareth A Cromie, Aimée M Dudley, Johannes Häberle, Gerald S Lipshutz

April 26, 2025 | bioRxiv
Metzger Lab

Variation in Natural Infection Outcomes and Cancer Cell Release from Soft-Shell Clams (Mya arenaria) with Bivalve Transmissible Neoplasia

Rachael M. Giersch, Jordana K. Sevigny, Sydney A. Weinandt, Carissa Mayo, Fiona E. S. Garrett, Karyn Tindbaek, Marisa A. Yonemitsu, Samuel F. M. Hart, Michael J. Metzger

April 10, 2025 | Human Genetics and Genomics Advances
Carvalho Lab

Genome-wide maps of highly-similar intrachromosomal repeats that can mediate ectopic recombination in three human genome assemblies

Luis Fernandez-Luna, Carlos Aguilar-Perez, Christopher M. Grochowski, Michele G. Mehaffey, Claudia M.B. Carvalho, Claudia Gonzaga-Jauregui

March 31, 2025 | PLoS Genetics
Metzger Lab

Gene expression in soft-shell clam (Mya arenaria) transmissible cancer reveals survival mechanisms during host infection and seawater transfer

Samuel F.M. Hart, Fiona E. S. Garrett, Jesse S. Kerr, Michael J. Metzger

February 28, 2025 | European Journal of Human Genetics
Carvalho Lab

Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets

Tugce Bozkurt-Yozgatli, Ming Yin Lun, Jesse D. Bengtsson, Ugur Sezerman, Ivan K. Chinn, Zeynep Coban-Akdemir & Claudia M. B. Carvalho

February 20, 2025 | Molecular Ecology
Metzger Lab

Multiple lineages of transmissible neoplasia in the basket cockle (Clinocardium nuttallii) with repeated horizontal transfer of mitochondrial DNA

Marisa A. Yonemitsu, Jordana K. Sevigny, Lauren E. Vandepas, James L. Dimond, Rachael M. Giersch, Helen J. Gurney-Smith, Cathryn L. Abbott, Janine Supernault, Ruth Withler, Peter D. Smith, Sydney A. Weinandt, Fiona E. S. Garrett, Robin Little Wing Sigo, Elizabeth Unsell, Ryan N. Crim, Michael J. Metzger