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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

January 1, 2025 | Genetics in Medicine Open
Dudley Lab

P007: A case series and functional study of two commonly reported pathogenic variants in OTC supports a hypomorphic classification

Steven Lang, Russell Lo, Gareth Cromie, Aimée Dudley, Nicholas Ah Mew, Vernon Sutton, Sandra Darilek, Saima Ali, Matthew Snyder, Brendan Lee, Ronit Marom, Sandesh Nagamani, Lindsay Burrage

January 1, 2025 | Cancer Discovery
Metzger Lab

Peto’s Paradox Is Dead. Long Live Peto’s Paradox

Michael J. Metzger

December 18, 2024 | arXiv
Carvalho Lab

GREGoR: Accelerating Genomics for Rare Diseases

Moez Dawood, Ben Heavner, Marsha M. Wheeler, Rachel A. Ungar, Jonathan LoTempio, Laurens Wiel, Seth Berger, Jonathan A. Bernstein, Jessica X. Chong, Emmanuèle C. Délot, Evan E. Eichler, Richard A. Gibbs, James R. Lupski, Ali Shojaie, Michael E. Talkowski, Alex H. Wagner, Chia-Lin Wei, Christopher Wellington, Matthew T. Wheeler, GREGoR Partner Members, Claudia M. B. Carvalho, Casey A. Gifford, Susanne May, Danny E. Miller, Heidi L. Rehm, Fritz J. Sedlazeck, Eric Vilain, Anne O’Donnell-Luria, Jennifer E. Posey, Lisa H. Chadwick, Michael J. Bamshad, Stephen B. Montgomery, Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR)Consortium

December 18, 2024 | Genome Medicine
Carvalho Lab

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

Davut Pehlivan, Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J. Trostle, Holly K. Harris, Bernhard Suter, Sukru Aras, Melissa B. Ramocki, Haowei Du, Michele G. Mehaffey, KyungHee Park, Ellen Wilkey, Cemal Karakas, Jesper J. Eisfeldt, Maria Pettersson, Lynn Liu, Marwan S. Shinawi, Virginia E. Kimonis, Wojciech Wiszniewski, Kyle Mckenzie, Timo Roser, Angela M. Vianna-Morgante, Alberto S. Cornier, Ahmed Abdelmoity, James P. Hwang, Shalini N. Jhangiani, Donna M. Muzny, Tadahiro Mitani, Kazuhiro Muramatsu, Shin Nabatame, Daniel G. Glaze, Jawid M. Fatih, Richard A. Gibbs, Zhandong Liu, Anna Lindstrand, Fritz J. Sedlazeck, James R. Lupski, Huda Y. Zoghbi & Claudia M. B. Carvalho