Bibliotecas PUC-SP - Busca Integrada

Exploring current challenges in the technologist workforce of clinical genomics laboratories

Por Yassmine Akkari, Sheila Dobin, Robert G. Best, Marco L. Leung
Publicado no Genetics in Medicine Open (2023-01-01)

Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review

Por Umamaheswaran Gurusamy, Swetha Ramadesikan, Mohammad Marhabaie, Caitlyn M. Colwell, Jesse M. Hunter, Jesse M. Hunter, Jesse M. Hunter, Marco L. Leung, Marco L. Leung, Marco L. Leung, Elaine R. Mardis, Elaine R. Mardis, Peter White, Peter White, Murugu Manickam, Murugu Manickam, Richard K. Wilson, Richard K. Wilson, Daniel C. Koboldt, Daniel C. Koboldt
Publicado no Frontiers in Genetics (2024-01-01)

Three Siblings With an Attenuated Presentation of Perlman Syndrome: A Case Report and Literature Review

Por Alayne P. Meyer, Daniel C. Koboldt, Swetha Ramadesikan, Kristin Zajo, Maria E. Hernandez Gonzalez, Anthony R. Miller, Douglas Depoorter, Catherine P. Comer, James I. Geller, Katherine Somers, Nilay Shah, Marco L. Leung
Publicado no Molecular Genetics & Genomic Medicine (2025-07-01)

Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing

Por Joie O. Olayiwola, Mohammad Marhabaie, Daniel Koboldt, Theodora Matthews, Amy Siemon, Danielle Mouhlas, Taylor Porter, George Kyle, Cortlandt Myers, Hui Mei, Ying‐Chen Claire Hou, Melanie Babcock, Jesse Hunter, Kathleen M. Schieffer, Yassmine Akkari, Shalini Reshmi, Catherine Cottrell, Mariam T. Mathew, Marco L. Leung
Publicado no Molecular Genetics & Genomic Medicine (2024-03-01)

Transient commensal clonal interactions can drive tumor metastasis

Por Suha Naffar-Abu Amara, Hendrik J. Kuiken, Laura M. Selfors, Timothy Butler, Marco L. Leung, Cheuk T. Leung, Elaine P. Kuhn, Teodora Kolarova, Carina Hage, Kripa Ganesh, Richard Panayiotou, Rosemary Foster, Bo R. Rueda, Athena Aktipis, Paul Spellman, Tan A. Ince, Joanne Xiu, Matthew Oberley, Zoran Gatalica, Nicholas Navin, Gordon B. Mills, Rodrick T. Bronson, Joan S. Brugge
Publicado no Nature Communications (2020-11-01)

BRAF inhibitors suppress apoptosis through off-target inhibition of JNK signaling

Por Harina Vin, Sandra S Ojeda, Grace Ching, Marco L Leung, Vida Chitsazzadeh, David W Dwyer, Charles H Adelmann, Monica Restrepo, Kristen N Richards, Larissa R Stewart, Lili Du, Scarlett B Ferguson, Deepavali Chakravarti, Karin Ehrenreiter, Manuela Baccarini, Rosamaria Ruggieri, Jonathan L Curry, Kevin B Kim, Ana M Ciurea, Madeleine Duvic, Victor G Prieto, Stephen E Ullrich, Kevin N Dalby, Elsa R Flores, Kenneth Y Tsai
Publicado no eLife (2013-11-01)

The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors

Por Joshua L. Deignan, Vimla Aggarwal, Allen E. Bale, Daniel B. Bellissimo, Jessica K. Booker, Yang Cao, Kristy R. Crooks, Kristen L. Deak, Daniela Del Gaudio, Birgit Funke, Nicole L. Hoppman, Vanessa Horner, Robert B. Hufnagel, Colleen Jackson-Cook, Prasad Koduru, Marco L. Leung, Shibo Li, Pengfei Liu, Minjie Luo, Rong Mao, Heather Mason-Suares, Fady M. Mikhail, Stephen R. Moore, Rizwan C. Naeem, Laura M. Pollard, Elena A. Repnikova, Lina Shao, Brandon M. Shaw, Shashirekha Shetty, Teresa A. Smolarek, Elizabeth Spiteri, Jessica Van Ziffle, Gail H. Vance, Cindy L. Vnencak-Jones, Eli S. Williams
Publicado no Genetics in Medicine Open (2024-01-01)