Rare Disease Publications

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

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

December 5, 2024 | PLOS One
Dudley Lab

Spatiotemporal patterns of gene expression during development of a complex colony morphology

Gareth A Cromie, Zhihao Tan, Michelle Hays, Amy Sirr, Aimée M Dudley

November 28, 2024 | Public Library of Science
Dudley Lab

Onwards! Open science and the (PLOS) genetics community

Dudley AM, Goriely A, Squarr J

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

October 29, 2024 | bioRxiv
Carvalho Lab

VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data

Haowei Du, Ming Yin Lun, Lidiia Gagarina, Michele G Mehaffey, James Paul Hwang, Shalini N. Jhangiani, Sravya V. Bhamidipati, Donna M. Muzny, M Cecilia Poli, Sebastian Ochoa, Ivan K. Chinn, Anna Linstrand, Jennifer E. Posey, Richard A Gibbs, James R. Lupski, Claudia M. B. Carvalho

September 15, 2024 | Human Molecular Genetics
Carvalho Lab

Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels

Sameer S Bajikar, Yehezkel Sztainberg, Alexander J Trostle, Harini P Tirumala, Ying-Wooi Wan, Caroline L Harrop, Jesse D Bengtsson, Claudia M B Carvalho, Davut Pehlivan, Bernhard Suter, Jeffrey L Neul, Zhandong Liu, Paymaan Jafar-Nejad, Frank Rigo, Huda Y Zoghbi