检索结果 - Roya Mostafavi

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  1. 1
    Clinical and Functional Significance of TP53 Exon 4–Intron 4 Splice Junction Variants

    Clinical and Functional Significance of TP53 Exon 4–Intron 4 Splice Junction Variants 由 Emília M. Pinto, Kara N. Maxwell, Hadeel Halalsheh, Aaron H. Phillips, Jacquelyn Powers, Suzanne P. MacFarland, Michael F. Walsh, Kelsey Breen, Maria Nirvana Formiga, Richard W. Kriwacki, Kim E. Nichols, Roya Mostafavi, Jinling Wang, Michael R. Clay, Carlos Rodríguez‐Galindo, Raul C. Ribeiro, Gerard P. Zambetti

    出版 2021
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  2. 2
    Relevance of Molecular Groups in Children with Newly Diagnosed Atypical Teratoid Rhabdoid Tumor: Results from Prospective St. Jude Multi-institutional Trials

    Relevance of Molecular Groups in Children with Newly Diagnosed Atypical Teratoid Rhabdoid Tumor: Results from Prospective St. Jude Multi-institutional Trials 由 Santhosh A. Upadhyaya, Giles Robinson, Arzu Onar‐Thomas, Brent A. Orr, Pascal D. Johann, Gang Wu, Catherine A. Billups, Ruth Tatevossian, Sandeep Kumar Dhanda, Ashok Srinivasan, Alberto Broniscer, Ibrahim Qaddoumi, Anna Vinitsky, Gregory T. Armstrong, Anne Bendel, Tim Hassall, Sonia Partap, Paul G. Fisher, John R. Crawford, Murali Chintagumpala, Éric Bouffet, Sridharan Gururangan, Roya Mostafavi, Robert P. Sanders, Paul Klimo, Zoltán Patay, Daniel J. Indelicato, Kim E. Nichols, Frederick A. Boop, Thomas E. Merchant, Marcel Kool, David W. Ellison, Amar Gajjar

    出版 2021
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  3. 3
    Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

    Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa 由 Björn Fischer‐Zirnsak, Nathalie Escande‐Beillard, Jaya Ganesh, Yu Xuan Tan, Mohammed Al Bughaili, Angela E. Lin, Inderneel Sahai, Paulina Bahena, Sara L. Reichert, Abigail Loh, Graham Wright, Jaron Liu, Elisa Rahikkala, Enikö K. Pivnick, Asim F. Choudhri, Ulrike Krüger, Tomasz Żemojtel, Conny M.A. van Ravenswaaij‐Arts, Roya Mostafavi, Irene Stolte‐Dijkstra, Sofie Symoens, L. Pajunen, Lihadh Al‐Gazali, David Meierhofer, Peter N. Robinson, Stefan Mundlos, Camilo E. Villarroel, Peter H. Byers, Amira Masri, Stephen P. Robertson, Ulrike Schwarze, Bert Callewaert, Bruno Reversade, Uwe Kornak

    出版 2015
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  4. 4
    Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

    Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures 由 Markus Zweier, Anaïs Begemann, Kirsty McWalter, Megan T. Cho, Lucia Abela, Siddharth Banka, Bettina Behring, Andrea Berger, Chester Brown, Maryline Carneiro, Jiani Chen, Gregory M. Cooper, Candice R. Finnila, María J. Guillen Sacoto, Alex Henderson, Ulrike Hüffmeier, Pascal Joset, Bronwyn Kerr, Gaëtan Lesca, Gloria Leszinski, John McDermott, Meira R. Meltzer, Kristin G. Monaghan, Roya Mostafavi, Katrin Õunap, Barbara Plecko, Zöe Powis, Gabriela Purcarin, Tiia Reimand, Korbinian M. Riedhammer, John M. Schreiber, Deepa Sirsi, Klaas J. Wierenga, Monica H. Wojcik, Sorina Mihaela Papuc, Katharina Steindl, Heinrich Sticht, Anita Rauch

    出版 2019
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  5. 5
    Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease

    Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease 由 Ian D. Krantz, Līvija Medne, Jamila Weatherly, K. Taylor Wild, Sawona Biswas, Batsal Devkota, Tiffiney R. Hartman, Luca Brunelli, Kristen Fishler, Omar Abdul‐Rahman, Joshua C. Euteneuer, Denise M. Hoover, David Dimmock, John P. Cleary, Lauge Farnaes, Jason Knight, Adam J. Schwarz, Ofelia Vargas-Shiraishi, Kristin Wigby, Neda Zadeh, Marwan Shinawi, Jennifer Wambach, Dustin Baldridge, F. Sessions Cole, Daniel Wegner, Nora Urraca, Shannon Holtrop, Roya Mostafavi, Henry J. Mroczkowski, Enikö K. Pivnick, Jewell C. Ward, Ajay J. Talati, Chester Brown, John W. Belmont, Julia Ortega, Keisha Robinson, W. Tyler Brocklehurst, Denise Perry, Subramanian S. Ajay, R. Tanner Hagelstrom, Maren Bennett, Vani Rajan, Ryan J. Taft

    出版 2021
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  6. 6
    Identification of novel candidate disease genes from de novo exonic copy number variants

    Identification of novel candidate disease genes from de novo exonic copy number variants 由 Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban‐Akdemir, Amber N. Pursley, Sandesh C.S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell‐Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth Roeder, Kimberly Nugent, Patricia I. Bader, Gary A. Bellus, Michael A. Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert S. Wildin, Anita Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward P. Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P. Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L. Kang, Seema R. Lalani, Carlos A. Bacino, Arthur L. Beaudet, Amy M. Breman, Janice Smith, Sau Wai Cheung, James R. Lupski, Ankita Patel, Chad A. Shaw, Paweł Stankiewicz

    出版 2017
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  7. 7
    Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing

    Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing 由 Scott Newman, Joy Nakitandwe, Chimene Kesserwan, Elizabeth M. Azzato, David A. Wheeler, Michael Rusch, Sheila Shurtleff, Dale J. Hedges, Kayla V. Hamilton, Scott G. Foy, Michael N. Edmonson, Andrew Thrasher, Armita Bahrami, Brent A. Orr, Jeffery M. Klco, Jiali Gu, Lynn W. Harrison, Lu Wang, Michael R. Clay, Annastasia Ouma, Antonina Silkov, Yanling Liu, Zhaojie Zhang, Yu Liu, Samuel W. Brady, Xin Zhou, Ti‐Cheng Chang, Manjusha Pande, Eric M. Davis, Jared Becksfort, Aman Patel, Mark R. Wilkinson, Delaram Rahbarinia, Manish Kubal, Jamie L. Maciaszek, Víctor Manuel López Pastor, Jay Knight, Alexander M. Gout, Jian Wang, Zhaohui Gu, Charles G. Mullighan, Rose B. McGee, Emily A. Quinn, Regina Nuccio, Roya Mostafavi, Elsie L. Gerhardt, Leslie M. Taylor, Jessica M. Valdez, Stacy J. Hines‐Dowell, Alberto S. Pappo, Giles Robinson, Liza‐Marie Johnson, Ching‐Hon Pui, David W. Ellison, James R. Downing, Jinghui Zhang, Kim E. Nichols

    出版 2021
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