June 21, 2024 | Cell Genomics
Carvalho Lab

Christopher M. Grochowski, Jesse D. Bengtsson, Haowei Du, Mira Gandhi, Ming Yin Lun, Michele G. Mehaffey, KyungHee Park, Wolfram Hops, Eva Benito, Patrick Hasenfeld, Jan O. Korbel, Medhat Mahmoud, Luis F. Paulin, Shalini N. Jhangiani, James Paul Hwang, Sravya V. Bhamidipati, Donna M. Muzny, Jawid M. Fatih, Richard A. Gibbs, Matthew Pendleton, Eoghan Harrington, Sissel Juul, Anna Lindstrand, Fritz J. Sedlazeck, Davut Pehlivan, James R. Lupski, and Claudia M.B. Carvalho

June 14, 2024 | Acta Obstetricia et Gynecologica Scandinavica
Carvalho Lab

Josephine Wincent, Hafdís T. Helgadóttir, Fotios Sergouniotis, Angelo Salazar Mantero, Claudia M. B. Carvalho, Helena Malmgren, Anna Lindstrand, Erik Iwarsson

May 30, 2024 | Genome Medicine
Carvalho Lab

Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E. L. M. Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M. Butler, Michael J. Lyons, Claudia M. B. Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane McCormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Aleš Maver, Maria K. Haanpää, Pia Pohjola, Harri Arikka, Anneke J. A. Kievit, Camilla Calandrini, Christian Iseli, Nicolas Guex & Alexandre Reymond

April 1, 2024 | Molecular Genetics and Metabolism
Dudley Lab

Michelle Tang, Gareth Cromie, Russell Lo, Martin Timour, Hiroki Morizono, Ljubica Caldovic, Nicholas Ah Mew, Andrea Gropman, Aimée Dudley

March 19, 2024 | Chromosome Research
Carvalho Lab

Silvia Souza da Costa, Veniamin Fishman, Mara Pinheiro, Andre Rodrigueiro, Maria Teresa Sanseverino, Paulo Zielinsky, Claudia M. B. Carvalho, Carla Rosenberg & Ana Cristina Victorino Krepischi

March 18, 2024 | medRxiv
Carvalho Lab

Medhat Mahmoud, John Harting, Holly Corbitt, Xiao Chen, Shalini N. Jhangiani, Harsha Doddapaneni, Qingchang Meng, Tina Han, Christine Lambert, Siyuan Zhang, Primo Baybayan, Geoff Henno, Hua Shen, Jianhong Hu, Yi Han, Casey Riegler, View ORCID ProfileGinger Metcalf, Geoff Henno, Ivan K. Chinn, View Michael A. Eberle, Sarah Kingan, Tim Farinholt, Claudia M.B. Carvalho, Richard A. Gibbs, Zev Kronenberg, Donna Muzny, Fritz J. Sedlazeck

March 7, 2024 | medRxiv
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, Zachery 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; 1000 Genomes ONT Sequencing Consortium; University of Washington Center for Rare Disease Research (UW-CRDR); Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; W Richard McCombie, Fritz J Sedlazeck, Justin M Zook, Stephen B Montgomery, Erik Garrison, Mikhail Kolmogorov, Michael C Schatz, Richard N McLaughlin Jr, Harriet Dashnow, Michael C Zody, Matt Loose, Miten Jain, Evan E Eichler, Danny E Miller

February 14, 2024 | Genetics in Medicine Open
Carvalho Lab

Zeynep Coban-Akdemir, Xiaofei Song, Francisco C Ceballos, Davut Pehlivan, Ender Karaca, Yavuz Bayram, Tadahiro Mitani, Tomasz Gambin, Tugce Bozkurt Yozgatli, Shalini N Jhangiani, Donna M Muzny, Richard A Lewis, Pengfei Liu, Eric Boerwinkle, Ada Hamosh, Richard A Gibbs, V Reid Sutton, Nara Sobreira, Claudia MB Carvalho, Chad A Shaw, Jennifer E Posey, David Valle, James R Lupski

February 13, 2024 | European Journal of Human Genetics
Carvalho Lab

James Lupski, Zain Dardas, Dana Marafi, Ruizhi Duan, Jawid Fatih, Omnia El-Rashidy, Christopher Grochowski, Claudia Carvalho, Shalini Jhangiani, Weimin Bi, Haowei Du, Richard Gibbs, Jennifer Posey, Daniel Calame, Maha Zaki

January 17, 2024 | medRxiv
Carvalho Lab

Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka ELM Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M Butler, Michael J Lyons, Claudia MB Carvalho, Chaofan Zhang, James R Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane Mccormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Ales Maver, Maria K Haanpää, Pia Pohjola, Harri Arikka, Christian Iseli, Nicolas Guex, Alexandre Reymond