Bibliotecas PUC-SP - Busca Integrada

P756: Uncovering disease-associated SVA insertions missed by routine clinical testing

за авторством Joy Goffena, Jonas Gustafson, Danny Miller
Опубліковано в: Genetics in Medicine Open (2025-01-01)

P655: Performing long-read sequencing from dried blood spot cards

за авторством Sydney Ward, Joy Goffena, Sophie Storz, Miranda Galey, Alexandra Keefe, Cate Paschal, Anna Scott, Danny Miller
Опубліковано в: Genetics in Medicine Open (2024-01-01)

P693: Resolution of newborn screening results via targeted long-read sequencing

за авторством Cate Paschal, Sunny Ye, Candace Myers, Sydney Ward, Joy Goffena, Sophie Storz, Zach Anderson, Miranda Zalusky, Anna Scott, Danny Miller
Опубліковано в: Genetics in Medicine Open (2025-01-01)

Elongator and codon bias regulate protein levels in mammalian peripheral neurons

за авторством Joy Goffena, Frances Lefcort, Yongqing Zhang, Elin Lehrmann, Marta Chaverra, Jehremy Felig, Joseph Walters, Richard Buksch, Kevin G. Becker, Lynn George
Опубліковано в: Nature Communications (2018-03-01)

Loss of Elp1 perturbs histone H2A.Z and the Notch signaling pathway

за авторством BreAnna Cameron, Elin Lehrmann, Tien Chih, Joseph Walters, Richard Buksch, Sara Snyder, Joy Goffena, Frances Lefcort, Kevin G. Becker, Lynn George
Опубліковано в: Biology Open (2021-09-01)

10: Untangling complex 15q rearrangements through long-read whole-genome sequencing

за авторством Cate R. Paschal, Miranda PG. Zalusky, Jaya Narayanan, Beto Rea Labra, Madelyn A. Gillentine, Sophie Storz, Joy Goffena, Anita E. Beck, Danny E. Miller
Опубліковано в: Genetics in Medicine Open (2025-01-01)

Long-read sequencing is required for precision diagnosis of incontinentia pigmenti

за авторством Monica H. Wojcik, Robin D. Clark, Abdallah F. Elias, Casie A. Genetti, Jill A. Madden, Dana Simpson, Linda Golkar, Miranda P.G. Zalusky, Angela L. Miller, Araceli Rodriguez, Joy Goffena, Camille A. Dash, Nikhita Damaraju, Sophia B. Gibson, Sophie H.R. Storz, Zachary B. Anderson, Jonas A. Gustafson, Isabelle Thiffault, Emily G. Farrow, Tomi Pastinen, Jasmine Lin, Jennifer T. Huang, Alan H. Beggs, Pankaj B. Agrawal, David T. Miller, Danny E. Miller
Опубліковано в: HGG Advances (2025-07-01)

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

за авторством Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie J. Russ-Hall, Amy L. Schneider, Emily S. Bonkowski, Edith P. Almanza Fuerte, Talia J. Allan, Miranda Perez-Galey Zalusky, Joy Goffena, Sophia B. Gibson, Denis M. Nyaga, Nico Lieffering, Malavika Hebbar, Emily V. Walker, Daniel Darnell, Scott R. Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Raissa Relator, Dorit Lev, Tally Lerman-Sagie, Kristen L. Park, Marielle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaetan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L. Tedder, Sachin Gupta, Elizabeth A. Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim C. Worley, Jill A. Rosenfeld, Hsiao-Tuan Chao, Undiagnosed Diseases Network, Geoffrey Neale, Gemma L. Carvill, University of Washington Center for Rare Disease Research, Zhaoming Wang, Samuel F. Berkovic, Lynette G. Sadleir, Danny E. Miller, Ingrid E. Scheffer, Bekim Sadikovic, Heather C. Mefford
Опубліковано в: Nature Communications (2024-08-01)

CFAP47 is Implicated in X-Linked Polycystic Kidney Disease

за авторством Takayasu Mori, Takuya Fujimaru, Chunyu Liu, Karynne Patterson, Kouhei Yamamoto, Takefumi Suzuki, Motoko Chiga, Akinari Sekine, Yoshifumi Ubara, Danny E. Miller, Miranda P.G. Zalusky, Shintaro Mandai, Fumiaki Ando, Yutaro Mori, Hiroaki Kikuchi, Koichiro Susa, Jessica X. Chong, Michael J. Bamshad, Yue-Qiu Tan, Feng Zhang, Shinichi Uchida, Eisei Sohara, Chia-Lin Wei, Michael J. Bamshad, Evan E. Eichler, Kailyn Anderson, Peter Anderson, Tamara J. Bacus, Sabrina Best, Elizabeth E. Blue, Katherine Brower, Kati J. Buckingham, Brianne Carroll, Silvia Casadei, Jessica X. Chong, Nikhita Damaraju, Colleen P. Davis, Christian D. Frazar, Sophia Gibson, Joy Goffena, William W. Gordon, Jonas A. Gustafson, William T. Harvey, Martha Horike-Pyne, Jameson R. Hurless, Caitlin Jacques, Gail P. Jarvik, Eric Johanson, J. Thomas Kolar, Xiaomeng Liu, Colby T. Marvin, Sean McGee, Holli Meyers, Danny E. Miller, Patrick M. Nielsen, Karynne Patterson, Aparna Radhakrishnan, Matthew A. Richardson, Erica L. Ryke, Aliya Sarkytbayeva, Tristan Shaffer, Kathryn M. Shively, Olivia M. Sommers, Sophie H.R. Storz, Joshua D. Smith, Lea M. Starita, Monica Tackettl, Sydney A. Ward, Jeffrey M. Weiss, Qian Yi, Miranda P.G. Zalusky, Michael J. Bamshad, Danny E. Miller, Evan E. Eichler, Heather Mefford
Опубліковано в: Kidney International Reports (2024-12-01)