Rare Disease Publications

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 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

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

January 1, 2025 | Genetics in Medicine Open
Carvalho Lab

P330: Understanding the disease mechanisms and copy number variations at 17p11.2 locus that do not encompass the dosage sensitive RAI1 gene

Shruti Pande, Christopher Grochowski, Davut Pehlivan, Parneet Kaur, Zain Dardas, Haowei Du, Chelsi Rose, Josephine Wincent, Shalini Jhangiani, Lorraine Potocki, Philip Hastings, Jennifer Posey, Anna Lindstrand, Claudia Carvalho, James Lupski

January 1, 2025 | Genetics in Medicine Open
Carvalho Lab

11: To remap or not to remap: the relevance of the genome references to resolve rare inversions

Claudia MB Carvalho, Kristine Bilgrav Saether, Jesse Bengtsson, Jesper Eisfeldt, Ming Yin Lun, Jakob Schuy, Medhat Mahmoud, Christopher M Grochowski, Davut Pehlivan, Fritz J Sedlazeck, Jill A Rosenfeld, Pengfei Liu, Weimin Bi, Ronit Marom, Anna Lindstrand

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