Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a TP63 variant and severe persistent T cell lymphopenia Autor Alevtina Gall, Marita Bosticardo, Stacey Ma, Karin Chen, Kayla Amini, Francesca Pala, Ottavia M. Delmonte, Tara Wenger, Michael Bamshad, Michael Bamshad, John Sleasman, Matthew Blessing, Nicolai S. C. van Oers, Luigi D. Notarangelo, M. Teresa de la Morena

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Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3 Autor Mary P. Colasanto, Shai Eyal, Payam Mohassel, Michael Bamshad, Carsten G. Bonnemann, Elazar Zelzer, Anne M. Moon, Gabrielle Kardon

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Fine-scale patterns of population stratification confound rare variant association tests. Autor Timothy D O'Connor, Adam Kiezun, Michael Bamshad, Stephen S Rich, Joshua D Smith, Emily Turner, NHLBIGO Exome Sequencing Project, ESP Population Genetics, Statistical Analysis Working Group, Suzanne M Leal, Joshua M Akey

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Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia Autor Maya Barad, Fabiana Csukasi, Michaela Bosakova, Jorge H. Martin, Wenjuan Zhang, S. Paige Taylor, Ralph S. Lachman, Jennifer Zieba, Michael Bamshad, Deborah Nickerson, Jessica X. Chong, Daniel H. Cohn, Pavel Krejci, Deborah Krakow, Ivan Duran

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P099: Mosaic variant in RHOA in an adolescent with a multisystem disorder composed of congenital and progressive anomalies Autor Aimee Allworth, Ian Glass, Anne Hing, Elizabeth Blue, Elisabeth Rosenthal, Sam Strohbehn, Gail Jarvik, Katrina Dipple, Andrew Stergachis, Virginia Sybert, Jane Ranchalis, Martha Horike-Pyne, Sirisak Chanprasert, Fuki Hisama, Michael Bamshad, James Bennett, Heather Brandling-Bennett, Michelle Cabrera, Mark Wener

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P414: SeqFirst: Parental perspectives on receiving results from neonatal rapid whole genome sequencing Autor Tara Wenger, Alexandra Keefe, Megan Sikes, Luke Kruidenier, Joon-Ho Yu, Kate McDuffie, Olivia Sommers, Heidi Gildersleeve, Abbey Scott, Chayna Davis, Paul Kruszka, Kati Buckingham, Jessica Chong, Kyle Retterer, Kirsty McWalter, Amy Snook, Jane Juusola, Deborah Copenheaver, David Veenstra, Danny Miller, Katrina Dipple, Michael Bamshad

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P194: SeqFirst mitigates race-based disparities in access to a precise genetic diagnosis in hospitalized neonates Autor Tara Wenger, Alexandra Keefe, Lukas Kruidenier, Megan Sikes, Abbey Scott, Joon-Ho Yu, Kate MacDuffie, Kailyn Anderson, Olivia Sommers, Heidi Gildersleeve, Kati Buckingham, Jessica Chong, Katrina Dipple, David Veenstra, Dan Doherty, Daniel Miller, Deborah Copenheaver, Jane Juusola, Amy Snook, Chayna Davis, Kirsty McWalter, Paul Kruszka, Michael Bamshad

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P208: SeqFirst: Impact of a precise genetic diagnosis on end-of-life decision making in the NICU* Autor Alexandra Keefe, Tara Wenger, Joon-Ho Yu, Megan Sikes, Luke Kruidenier, Abbey Scott, Kate McDuffie, Olivia Sommers, Heidi Gildersleeve, Chayna Davis, Paul Kruszka, Kati Buckingham, Jessica Chong, David Veenstra, Kyle Retterer, Kirsty McWalter, Amy Snook, Jane Juusola, Deborah Copenheaver, Danny Miller, Katrina Dipple, Kyle Brothers, Michael Bamshad

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P229: Non-coding variants create an enhancer cluster that causes resistance to thyrotropin via long-range interactions with a microRNA promoter Autor Elliott Swanson, Helmut Grasberger, Alexandra Dumitrescu, Xiao-Hui Liao, Roy Weiss, Panudda Srichomkwun, Theodora Pappa, Junfeng Cheng, Takashi Yoshimura, Phillip Hoffmann, Monica Malheiros França, Rebecca Tagett, Kazumichi Onigata, Sabine Costagliola, Jane Ranchalis, Shane Neph, Mitchell Vollger, Jessica Chong, Michael Bamshad, Guillaume Smits, Gilbert Vassart, Samuel Refetoff, Andrew Stergachis

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P214: SeqFirst DDi: Early whole genome sequencing improves access to early precise genetic diagnosis for children with developmental differences Autor Katrina Dipple, Daniel Doherty, Kailyn Anderson, Olivia Sommers, Tara Wenger, Kate MacDuffie, Alexandra Keefe, Abbey Scott, Lukas Kruidenier, Jamie Love-Nichols, Heidi Gildersleeve, Chayna Davis, Kati Buckingham, Jessica Chong, David Veenstra, Danny Miller, Deborah Copenheaver, Jane Juusola, Kyle Retterer, Kirsty McWalter, Paul Kruszka, Joon-Ho Yu, Michael Bamshad

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Accounting for population structure in genetic studies of cystic fibrosis Autor Hanley Kingston, Adrienne M. Stilp, William Gordon, Jai Broome, Stephanie M. Gogarten, Hua Ling, John Barnard, Shannon Dugan-Perez, Patrick T. Ellinor, Stacey Gabriel, Soren Germer, Richard A. Gibbs, Namrata Gupta, Kenneth Rice, Albert V. Smith, Michael C. Zody, Scott M. Blackman, Garry Cutting, Michael R. Knowles, Yi-Hui Zhou, Margaret Rosenfeld, Ronald L. Gibson, Michael Bamshad, Alison Fohner, Elizabeth E. Blue

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De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. Autor James R Priest, Kazutoyo Osoegawa, Nebil Mohammed, Vivek Nanda, Ramendra Kundu, Kathleen Schultz, Edward J Lammer, Santhosh Girirajan, Todd Scheetz, Daryl Waggott, Francois Haddad, Sushma Reddy, Daniel Bernstein, Trudy Burns, Jeffrey D Steimle, Xinan H Yang, Ivan P Moskowitz, Matthew Hurles, Richard P Lifton, Debbie Nickerson, Michael Bamshad, Evan E Eichler, Seema Mital, Val Sheffield, Thomas Quertermous, Bruce D Gelb, Michael Portman, Euan A Ashley

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De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. Autor Hongjian Qi, Lan Yu, Xueya Zhou, Julia Wynn, Haoquan Zhao, Yicheng Guo, Na Zhu, Alexander Kitaygorodsky, Rebecca Hernan, Gudrun Aspelund, Foong-Yen Lim, Timothy Crombleholme, Robert Cusick, Kenneth Azarow, Melissa E Danko, Dai Chung, Brad W Warner, George B Mychaliska, Douglas Potoka, Amy J Wagner, Mahmoud ElFiky, Jay M Wilson, Debbie Nickerson, Michael Bamshad, Frances A High, Mauro Longoni, Patricia K Donahoe, Wendy K Chung, Yufeng Shen

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A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome Autor Rasika Ann Mathias, Margaret A. Taub, Christopher R. Gignoux, Wenqing Fu, Shaila Musharoff, Timothy D. O'Connor, Candelaria Vergara, Dara G. Torgerson, Maria Pino-Yanes, Suyash S. Shringarpure, Lili Huang, Nicholas Rafaels, Meher Preethi Boorgula, Henry Richard Johnston, Victor E. Ortega, Albert M. Levin, Wei Song, Raul Torres, Badri Padhukasahasram, Celeste Eng, Delmy-Aracely Mejia-Mejia, Trevor Ferguson, Zhaohui S. Qin, Alan F. Scott, Maria Yazdanbakhsh, James G. Wilson, Javier Marrugo, Leslie A. Lange, Rajesh Kumar, Pedro C. Avila, L. Keoki Williams, Harold Watson, Lorraine B. Ware, Christopher Olopade, Olufunmilayo Olopade, Ricardo Oliveira, Carole Ober, Dan L. Nicolae, Deborah Meyers, Alvaro Mayorga, Jennifer Knight-Madden, Tina Hartert, Nadia N. Hansel, Marilyn G. Foreman, Jean G. Ford, Mezbah U. Faruque, Georgia M. Dunston, Luis Caraballo, Esteban G. Burchard, Eugene Bleecker, Maria Ilma Araujo, Edwin Francisco Herrera-Paz, Kimberly Gietzen, Wendy E. Grus, Michael Bamshad, Carlos D. Bustamante, Eimear E. Kenny, Ryan D. Hernandez, Terri H. Beaty, Ingo Ruczinski, Joshua Akey, CAAPA, Kathleen C. Barnes

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