檢索結果 - Danny E. Miller

Synaptonemal Complex-Deficient Drosophila melanogaster Females Exhibit Rare DSB Repair Events, Recurrent Copy-Number Variation, and an Increased Rate of de Novo Transposable Elemen... 由 Danny E. Miller

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Applications of long-read sequencing to Mendelian genetics 由 Francesco Kumara Mastrorosa, Danny E. Miller, Evan E. Eichler

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Heterozygous inversion breakpoints suppress meiotic crossovers by altering recombination repair outcomes. 由 Haosheng Li, Erica Berent, Savannah Hadjipanteli, Miranda Galey, Nigel Muhammad-Lahbabi, Danny E Miller, K Nicole Crown

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Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic 由 Stephanie U. Greer, Jacquelin Botello, Donna Hongo, Brynn Levy, Premal Shah, Matthew Rabinowitz, Danny E. Miller, Kate Im, Akash Kumar

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Correction to: Congenital pleuropulmonary blastoma in a newborn with a variant of uncertain significance in DICER1 evaluated by RNA-sequencing 由 Allison N. J. Lyle, Timothy J. D. Ohlsen, Danny E. Miller, Gabrielle Brown, Natalie Waligorski, Rebecca Stark, Mallory R. Taylor, Mihai Puia‑Dumitrescu

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Congenital pleuropulmonary blastoma in a newborn with a variant of uncertain significance in DICER1 evaluated by RNA-sequencing 由 Allison N. J. Lyle, Timothy J. D. Ohlsen, Danny E. Miller, Gabrielle Brown, Natalie Waligorski, Rebecca Stark, Mallory R. Taylor, Mihai Puia-Dumitrescu

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10: Untangling complex 15q rearrangements through long-read whole-genome sequencing 由 Cate R. Paschal, Miranda PG. Zalusky, Jaya Narayanan, Beto Rea Labra, Madelyn A. Gillentine, Sophie Storz, Joy Goffena, Anita E. Beck, Danny E. Miller

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Identification and Characterization of Breakpoints and Mutations on Drosophila melanogaster Balancer Chromosomes 由 Danny E. Miller, Lily Kahsai, Kasun Buddika, Michael J. Dixon, Bernard Y. Kim, Brian R. Calvi, Nicholas S. Sokol, R. Scott Hawley, Kevin R. Cook

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Paramutation-like Epigenetic Conversion by piRNA at the Telomere of <i>Drosophila virilis</i> 由 Ana P. Dorador, Martina Dalikova, Stefan Cerbin, Chris M. Stillman, Molly G. Zych, R. Scott Hawley, Danny E. Miller, David A. Ray, Sergei Y. Funikov, Michael B. Evgen’ev, Justin P. Blumenstiel

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A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development 由 Andrea Wilderman, Eva D’haene, Machteld Baetens, Tara N. Yankee, Emma Wentworth Winchester, Nicole Glidden, Ellen Roets, Jo Van Dorpe, Sandra Janssens, Danny E. Miller, Miranda Galey, Kari M. Brown, Rolf W. Stottmann, Sarah Vergult, K. Nicole Weaver, Samantha A. Brugmann, Timothy C. Cox, Justin Cotney

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3-hour genome sequencing and targeted analysis to rapidly assess genetic risk 由 Miranda P.G. Zalusky, Jonas A. Gustafson, Stephanie C. Bohaczuk, Ben Mallory, Paxton Reed, Tara Wenger, Erika Beckman, Irene J. Chang, Cate R. Paschal, Jillian G. Buchan, Christina M. Lockwood, Mihai Puia-Dumitrescu, Daniel R. Garalde, Joseph Guillory, Androo J. Markham, Michael J. Bamshad, Evan E. Eichler, Andrew B. Stergachis, Danny E. Miller

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CFAP47 is Implicated in X-Linked Polycystic Kidney Disease 由 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

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

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Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome 由 Jonai Pujol‐Giménez, Ghayda Mirzaa, Elizabeth E. Blue, Giuseppe Albano, Danny E. Miller, Aimee Allworth, James T. Bennett, Peter H. Byers, Sirisak Chanprasert, Jingheng Chen, Daniel Doherty, Andrew B. Folta, Madelyn A. Gillentine, Ian Glass, Anne Hing, Martha Horike‐Pyne, Kathleen A. Leppig, Azma Parhin, Jane Ranchalis, Wendy H. Raskind, Elisabeth A. Rosenthal, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, Virginia P. Sybert, Andrew Timms, Mark Wener, University of Washington Center for Mendelian Genomics (UW‐CMG)a, Undiagnosed Diseases Network (UDN), Michael J. Bamshad, Fuki M. Hisama, Gail P. Jarvik, Katrina M. Dipple, Matthias A. Hediger, Andrew B. Stergachis

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Single-fly genome assemblies fill major phylogenomic gaps across the Drosophilidae Tree of Life. 由 Bernard Y Kim, Hannah R Gellert, Samuel H Church, Anton Suvorov, Sean S Anderson, Olga Barmina, Sofia G Beskid, Aaron A Comeault, K Nicole Crown, Sarah E Diamond, Steve Dorus, Takako Fujichika, James A Hemker, Jan Hrcek, Maaria Kankare, Toru Katoh, Karl N Magnacca, Ryan A Martin, Teruyuki Matsunaga, Matthew J Medeiros, Danny E Miller, Scott Pitnick, Michele Schiffer, Sara Simoni, Tessa E Steenwinkel, Zeeshan A Syed, Aya Takahashi, Kevin H-C Wei, Tsuya Yokoyama, Michael B Eisen, Artyom Kopp, Daniel Matute, Darren J Obbard, Patrick M O'Grady, Donald K Price, Masanori J Toda, Thomas Werner, Dmitri A Petrov

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Highly contiguous assemblies of 101 drosophilid genomes 由 Bernard Y Kim, Jeremy R Wang, Danny E Miller, Olga Barmina, Emily Delaney, Ammon Thompson, Aaron A Comeault, David Peede, Emmanuel RR D'Agostino, Julianne Pelaez, Jessica M Aguilar, Diler Haji, Teruyuki Matsunaga, Ellie E Armstrong, Molly Zych, Yoshitaka Ogawa, Marina Stamenković-Radak, Mihailo Jelić, Marija Savić Veselinović, Marija Tanasković, Pavle Erić, Jian-Jun Gao, Takehiro K Katoh, Masanori J Toda, Hideaki Watabe, Masayoshi Watada, Jeremy S Davis, Leonie C Moyle, Giulia Manoli, Enrico Bertolini, Vladimír Košťál, R Scott Hawley, Aya Takahashi, Corbin D Jones, Donald K Price, Noah Whiteman, Artyom Kopp, Daniel R Matute, Dmitri A Petrov

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Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts 由 Elizabeth E. Blue, Samuel J. Huang, Alyna Khan, Katie Golden-Grant, Brenna Boyd, Elisabeth A. Rosenthal, Madelyn A. Gillentine, Leah R. Fleming, David R. Adams, Lynne Wolfe, Aimee Allworth, Michael J. Bamshad, Nikeisha J. Caruana, Sirisak Chanprasert, Jingheng Chen, Nitsuh Dargie, Daniel Doherty, Marisa W. Friederich, Fuki M. Hisama, Martha Horike-Pyne, Jessica C. Lee, Tonia E. Donovan, Daniella H. Hock, Kathleen A. Leppig, Danny E. Miller, Ghayda Mirzaa, Jane Ranchalis, Wendy H. Raskind, Cole R. Michel, Richard Reisdorph, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, David A. Stroud, Virginia P. Sybert, Mark H. Wener, Andrew B. Stergachis, Christina T. Lam, Gail P. Jarvik, Katrina M. Dipple, Johan L.K. Van Hove, Ian A. Glass

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

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