November 1, 2025 | Annals of Neurology
Carvalho Lab

D Pehlivan, JD Bengtsson, SS Bajikar, CM Grochowski, MY Lun, HK Harris, B Suter, S Aras, MB Ramocki, AT Abdelmoity, A Lindstrandt, FJ Sedlazeck, JR Lupski, HY Zoghbi, CM Carvalho

October 17, 2025 | medRxiv
Carvalho Lab

Siyuan Cheng, Qing Zhang, Xinchang Zheng, Shalini Jhangiani, Jacqueline C Weir, Jesse R Farek, Heer H Mehta, Ziad M Khan, Yi Han, Huyen H Dinh, Kerstin P Blankenburg, Jennifer E Posey, Richard A Gibbs, Donna M Muzny, Claudia MB Carvalho, Mitchell A Bekritsky, Ali Crawford, Daniel Calame, James Han, Fritz J Sedlazeck

October 13, 2025 | bioRxiv
Carvalho Lab

Min-Hwan Sohn, Danilo Dubocanin, Mitchell R Vollger, Youngjun Kwon, Anna Minkina, Katherine M Munson, Samuel FM Hart, Jane E Ranchalis, Nancy L Parmalee, Adriana E Sedeño-Cortés, Jeffrey Ou, Natalie YT Au, Stephanie Bohaczuk, Brianne Carroll, Christian D Frazar, William T Harvey, Kendra Hoekzema, Meng-Fan Huang, Caitlin N Jacques, Dana M Jensen, J Thomas Kolar, Rosa Lee, Jiadong Lin, Kelsey Loy, Taralynn Mack, Yizi Mao, Meranda M Pham, Erica Ryke, Joshua D Smith, Lila Sutherlin, Elliott G Swanson, Jeffrey M Weiss, SMaHT Assembly WG, Claudia Carvalho, Tim HH Coorens, Kelley Harris, Chia-Lin Wei, Evan E Eichler, Nicolas Altemose, James T Bennett, Andrew B Stergachis

August 12, 2025 | medRxiv
Carvalho Lab

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

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

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

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

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

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

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