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

January 1, 2025 | Cancer Discovery
Metzger Lab

Michael J. Metzger

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

December 18, 2024 | Genome Medicine
Carvalho Lab

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 7, 2024 | bioRxiv
Metzger Lab

Sydney A. Weinandt, Zachary J. Child, Dorothy Lartey, Angel Santos, Holden Maxfield, Jordana K. Sevigny, Fiona E. S. Garrett, Peter D. Smith, Rachael M. Giersch, Samuel F. M. Hart, Franchesca Perez, Lucas Rabins, Samuel Kaiser, Anna Boyar, Jan Newton, Jesse Kerr, James L. Dimond, Michael J. Metzger

December 5, 2024 | PLOS One
Dudley Lab

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

November 28, 2024 | Public Library of Science
Dudley Lab

Dudley AM, Goriely A, Squarr J

November 1, 2024 | Genome Research
Carvalho Lab

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

November 1, 2024 | Genome Research
McLaughlin Lab

Jonas A Gustafson, Sophia B Gibson, Nikhita Damaraju, Miranda PG Zalusky, Kendra Hoekzema, David Twesigomwe, Lei Yang, Anthony A Snead, Phillip A Richmond, Wouter De Coster, Nathan D Olson, Andrea Guarracino, Qiuhui Li, Angela L Miller, Joy Goffena, Zachary B Anderson, Sophie HR Storz, Sydney A Ward, Maisha Sinha, Claudia Gonzaga-Jauregui, Wayne E Clarke, Anna O Basile, André Corvelo, Catherine Reeves, Adrienne Helland, Rajeeva Lochan Musunuri, Mahler Revsine, Karynne E Patterson, Cate R Paschal, Christina Zakarian, Sara Goodwin, Tanner D Jensen, Esther Robb, William Richard McCombie, Fritz J Sedlazeck, Justin M Zook, Stephen B Montgomery, Erik Garrison, Mikhail Kolmogorov, Michael C Schatz, Richard N McLaughlin, Harriet Dashnow, Michael C Zody, Matt Loose, Miten Jain, Evan E Eichler, Danny E Miller, 1000 Genomes ONT Sequencing Consortium, Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium