檢索結果 - Patrick Devine
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Loss of p16 expression is a sensitive marker of CDKN2A homozygous deletion in malignant meningiomas 由 Vivian Tang, Rufei Lu, Kanish Mirchia, Jessica Van Ziffle, Patrick Devine, Julieann Lee, Joanna J. Phillips, Arie Perry, David R. Raleigh, Calixto‐Hope G. Lucas, David A. Solomon
出版 2023Carta -
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Genetic ancestry and diagnostic yield of exome sequencing in a diverse population 由 Yusuph Mavura, Nuriye Sahin‐Hodoglugil, Uğur Hodoğlugil, Mark Kvale, Pierre‐Marie Martin, Jessica Van Ziffle, W. Patrick Devine, Sara Ackerman, Barbara A. Koenig, Pui‐Yan Kwok, Mary E. Norton, Anne Slavotinek, Neil Risch
出版 2024Artigo -
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Next-Generation Sequencing of Retinoblastoma Identifies Pathogenic Alterations beyond RB1 Inactivation That Correlate with Aggressive Histopathologic Features 由 Armin R. Afshar, Melike Pekmezci, Michele M. Bloomer, Nicola J. Cadenas, Meredith Stevers, Anuradha Banerjee, Ritu Roy, Adam B. Olshen, Jessica Van Ziffle, Courtney Onodera, W. Patrick Devine, James P. Grenert, Boris C. Bastian, David A. Solomon, Bertil Damato
出版 2019Artigo -
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Identification of high-risk human papillomavirus and Rb/E2F pathway genomic alterations in mutually exclusive subsets of colorectal neuroendocrine carcinoma 由 Eliah R. Shamir, W. Patrick Devine, Melike Pekmezci, Sarah E. Umetsu, Gregor Krings, Scot Federman, Soo‐Jin Cho, Tara A. Saunders, Kuang‐Yu Jen, Emily K. Bergsland, Kirk D. Jones, Grace Kim, Sanjay Kakar, Charles Y. Chiu, Nancy M. Joseph
出版 2018Artigo -
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Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis 由 Teresa N. Sparks, Billie R. Lianoglou, Rebecca Adami, Ilina D. Pluym, Kerry Holliman, Jennifer Duffy, Sarah L. Downum, Sachi Patel, Amanda Faubel, Nina M. Boe, Nancy T. Field, Aisling Murphy, Louise C. Laurent, Jennifer Jolley, Cherry Uy, Anne Slavotinek, Patrick Devine, Uğur Hodoğlugil, Jessica Van Ziffle, Stephan Sanders, Tippi C. MacKenzie, Mary E. Norton
出版 2020Artigo -
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Modeling Human TBX5 Haploinsufficiency Predicts Regulatory Networks for Congenital Heart Disease 由 Irfan S. Kathiriya, Kavitha S. Rao, Giovanni Iacono, W. Patrick Devine, Andrew P. Blair, Swetansu K. Hota, Michael H. Lai, Bayardo I. Garay, Reuben Thomas, Henry Gong, Lauren K. Wasson, Piyush Goyal, Tatyana Sukonnik, Kevin Hu, Güneş Akgün, Laure D. Bernard, Brynn N. Akerberg, Fei Gu, Kai Li, Matthew L Speir, Maximilian Haeussler, William T. Pu, Joshua M. Stuart, Christine E. Seidman, J G Seidman, Holger Heyn, Benoit G. Bruneau
出版 2020Artigo -
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Neoadjuvant Osimertinib for the Treatment of Stage I-IIIA Epidermal Growth Factor Receptor–Mutated Non–Small Cell Lung Cancer: A Phase II Multicenter Study 由 Collin M. Blakely, Anatoly Urisman, Matthew A. Gubens, Claire K. Mulvey, Greg M. Allen, Stephen Shiboski, Julia Rotow, Turja Chakrabarti, D. Lucas Kerr, Jacqueline V. Aredo, Bianca Bacaltos, Megan Gee, Lisa Tan, Kirk D. Jones, W. Patrick Devine, Robert C. Doebele, Dara L. Aisner, Tejas Patil, Erin L. Schenk, Trever G. Bivona, Jonathan W. Riess, Melissa H. Coleman, Johannes R. Kratz, David M. Jablons
出版 2024Artigo -
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Myxoid glioneuronal tumor, <i>PDGFRA</i> p.K385‐mutant: clinical, radiologic, and histopathologic features 由 Calixto‐Hope G. Lucas, Javier Villanueva-Meyer, Nicholas Whipple, Nancy Ann Oberheim Bush, Tabitha Cooney, Susan M. Chang, Michael McDermott, Mitchel S. Berger, Elaine Cham, Peter P. Sun, Angelica R. Putnam, Hong Zhou, Robert J. Bollo, Samuel Cheshier, Matthew M. Poppe, Kar‐Ming Fung, Sarah Sung, Chad A. Glenn, Xuemo Fan, Serguei Bannykh, Jethro Hu, Moise Danielpour, Rong Li, Elizabeth Alva, James M. Johnston, Jessica Van Ziffle, Courtney Onodera, Patrick Devine, James P. Grenert, Julieann C. Lee, Melike Pekmezci, Tarık Tihan, Andrew W. Bollen, Arie Perry, David A. Solomon
出版 2019Artigo -
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Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population 由 Anne Slavotinek, Shannon Rego, Nuriye Sahin‐Hodoglugil, Mark Kvale, Billie R. Lianoglou, Tiffany Yip, Hannah Hoban, Simon Outram, Beatrice Anguiano, Flavia Chen, Jeremy Michelson, Roberta Cilio, Cynthia J. Curry, Renata C. Gallagher, Marisa Gardner, Rachel Kuperman, Bryce A. Mendelsohn, Elliott H. Sherr, Joseph T.C. Shieh, Jonathan B. Strober, Allison Tam, Jessica Tenney, William A. Weiss, Amy Whittle, Garrett Chin, Amanda Faubel, Hannah Prasad, Yusuph Mavura, Jessica Van Ziffle, W. Patrick Devine, Uğur Hodoğlugil, Pierre‐Marie Martin, Teresa N. Sparks, Barbara A. Koenig, Sara Ackerman, Neil Risch, Pui‐Yan Kwok, Mary E. Norton
出版 2023Artigo -
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Pediatric bithalamic gliomas have a distinct epigenetic signature and frequent EGFR exon 20 insertions resulting in potential sensitivity to targeted kinase inhibition 由 Gourish Mondal, Julieann C. Lee, Ajay Ravindranathan, Javier Villanueva-Meyer, Quynh T. Tran, Sariah J. Allen, Jairo Barreto, Rohit Gupta, Pamela Doo, Jessica Van Ziffle, Courtney Onodera, Patrick Devine, James P. Grenert, David Samuel, Rong Li, Laura K. Metrock, Lee‐Way Jin, Reuben Antony, Mouied Alashari, Samuel Cheshier, Nicholas Whipple, Carol S. Bruggers, Corey Raffel, Nalin Gupta, Cassie Kline, Alyssa Reddy, Anu Banerjee, Matthew D. Hall, Minesh P. Mehta, Ziad Khatib, Ossama Maher, Carole Brathwaite, Melike Pekmezci, Joanna J. Phillips, Andrew W. Bollen, Tarık Tihan, John T. Lucas, Alberto Broniscer, Mitchel S. Berger, Arie Perry, Brent A. Orr, David A. Solomon
出版 2020Artigo -
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Novel <i>SOX10</i> indel mutations drive schwannomas through impaired transactivation of myelination gene programs 由 Erik A. Williams, Ajay Ravindranathan, Rohit Gupta, Nicholas Stevers, Abigail K. Suwala, Chibo Hong, Somang Kim, Jimmy Yuan, Jasper Wu, Jairo Barreto, Calixto‐Hope G. Lucas, Emily Chan, Melike Pekmezci, Philip E. LeBoit, Thaddeus W. Mully, Arie Perry, Andrew W. Bollen, Jessica Van Ziffle, W. Patrick Devine, Alyssa Reddy, Nalin Gupta, Kristen M. Basnet, Robert J.B. Macaulay, Patrick Malafronte, Han Lee, William H. Yong, Kevin Jon Williams, Tareq A. Juratli, Douglas A. Mata, Richard S.P. Huang, Matthew Hiemenz, Dean C. Pavlick, Garrett M. Frampton, Tyler Janovitz, Jeffrey S. Ross, Susan M. Chang, Mitchel S. Berger, Line Jacques, Jun S. Song, J Costello, David A. Solomon
出版 2023Artigo -
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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome 由 Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Sarah Smithson, Ana Beleza‐Meireles, Mariet W. Elting, Quinten Waisfisz, Anne O’Donnell‐Luria, C. Nowak, Jessica Douglas, Anne Ronan, Theresa Brunet, Urania Kotzaeridou, Shayna Svihovec, Margarita Sáenz, Isabelle Thiffault, Florencia Del Viso, Patrick Devine, Shannon Rego, Jessica Tenney, Arie van Haeringen, Claudia Ruivenkamp, Saskia Koene, Stephen P. Robertson, Charulata Deshpande, Rolph Pfundt, Nienke E. Verbeek, Jiddeke M. van de Kamp, Janneke M.M. Weiss, Anna Ruiz, Elisabeth Gabau, Ehud Banne, Alexander Pepler, Armand Bottani, Sacha Laurent, Michel Guipponi, Emilia Bijlsma, Ange‐Line Bruel, Arthur Sorlin, Mary Willis, Zöe Powis, Thomas Smol, Catherine Vincent‐Delorme, Diana Baralle, Estelle Colin, Nicole Revençu, Eduardo Calpena, Andrew O.M. Wilkie, Maya Chopra, Valérie Cormier‐Daire, Boris Keren, Alexandra Afenjar, Marcello Niceta, Antonio Terracciano, Nicola Specchio, Marco Tartaglia, Marlène Rio, Giulia Barcia, Sophie Rondeau, Cindy Colson, Jeroen Bakkers, Peter D. Mace, Louise S. Bicknell, Gijs van Haaften
出版 2022Artigo -
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De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy 由 Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy Barwick, Michaela Bonfert, Carsten G. Bönnemann, Eva H. Brilstra, Wendy K. Chung, Angus Clarke, Patrick Devine, Sandra Donkervoort, Jamie L. Fraser, Jennifer Friedman, Alyssa Gates, Jamal Ghoumid, Emma Hobson, Gabriella Horváth, Jennifer Keller‐Ramey, Boris Keren, Manju A. Kurian, Virgina Lee, Kathleen A. Leppig, Johan Lundgren, Marie McDonald, Heather M. McLaughlin, Amy McTague, Heather C. Mefford, Cyril Mignot, Mohamad A. Mikati, Caroline Nava, F. Lucy Raymond, Julian R. Sampson, Alba Sanchis-Juan, Vandana Shashi, Joseph T.C. Shieh, Marwan Shinawi, Anne Slavotinek, Tommy Stödberg, Nicholas Stong, Jennifer A. Sullivan, Ashley C. Taylor, Tomi L. Toler, Marie-José van den Boogaard, Saskia N. van der Crabben, Koen L.I. van Gassen, Richard H. van Jaarsveld, Jessica Van Ziffle, Alexandrea Wadley, Matias Wagner, Kristen Wigby, Saskia B. Wortmann, Yuri A. Zárate, Rikke S. Møller, Johannes R. Lemke, Konrad Platzer
出版 2020Artigo
相關主題
Biology
Genetics
Gene
Medicine
Cancer research
Cell biology
Mutation
Pathology
Anatomy
Computational biology
Internal medicine
Exome sequencing
Gene expression
Pediatrics
Phenotype
Cancer
Chromatin
Cohort
Embryonic stem cell
Enhancer
Fetus
Genetic testing
Heart development
Missense mutation
Mutant
Pregnancy
Prenatal diagnosis
Psychiatry
Regulation of gene expression
Transcription factor