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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

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

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

November 1, 2024 | Genome Research
Carvalho Lab

Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps

Kristine Bilgrav Saether, Jesper Eisfeldt, Jesse D. Bengtsson, Ming Yin Lun, Christopher M. Grochowski, Medhat Mahmoud, Hsiao-Tuan Chao, Jill A. Rosenfeld, Pengfei Liu, Marlene Ek, Jakob Schuy1, Adam Ameur, Hongzheng Dai, Undiagnosed Diseases Network, James Paul Hwang, Fritz J. Sedlazeck, Weimin Bi, Ronit Marom, Josephine Wincent, Ann Nordgren, Claudia M.B. Carvalho and Anna Lindstrand

October 29, 2024 | medRxiv
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