Results 41 to 50 of about 2,048 (131)
Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery
Clinical Genetics, Volume 109, Issue 4, Page 717-724, April 2026.Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek +10 morewiley +1 more sourceDNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade
ACR Open Rheumatology, Volume 8, Issue 2, February 2026.Objective
Biallelic loss‐of‐function variants in DNASE1L3 cause inherited systemic lupus erythematosus and hypocomplementemic urticarial vasculitis. These disorders arise from defective clearance of extracellular chromatin, leading to autoantibody formation, immune complex deposition, and complement consumption.Annel Andrea Leon Tenorio, Takeshi Sugio, Jordan Cheng, Devon E. Bonner, Mohammad Shahrokh Esfahani, Sivakanthan Kasinathan, Joyce J. Hsu, Amanda Moyer, Luisa Pimentel Vera, Jennefer Carter, Chloe M. Reuter, Shruti Marwaha, Imelda Balboni, Undiagnosed Diseases Network, Alyssa A. Tran, Arjun Tarakad, Ashok Balasubramanyam, Brendan H. Lee, Carlos A. Bacino, Daryl A. Scott, Elaine Seto, Gary D. Clark, Hongzheng Dai, Hsiao‐Tuan Chao, Ivan Chinn, James P. Orengo, Jill A. Rosenfeld, Kim Worley, Lindsay C. Burrage, Lisa T. Emrick, Lorraine Potocki, Monika Weisz Hubshman, Richard A. Lewis, Ronit Marom, Seema R. Lalani, Shamika Ketkar, Tiphanie P. Vogel, William J. Craigen, Jared Sninsky, Lauren Blieden, Sandesh Nagamani, Hugo J. Bellen, Michael F. Wangler, Oguz Kanca, Shinya Yamamoto, Christine M. Eng, Patricia A. Ward, Pengfei Liu, Adeline Vanderver, Cara Skraban, Edward Behrens, Gonench Kilich, Kathleen Sullivan, Kelly Hassey, Ramakrishnan Rajagopalan, Rebecca Ganetzky, Vishnu Cuddapah, Anna Raper, Daniel J. Rader, Giorgio Sirugo, Anne Slavotinek, Christopher Mayhew, Eneida Mendonca, Ziyuan Guo, Allyn McConkie‐Rosell, Kelly Schoch, Mohamad Mikati, Nicole M. Walley, Rebecca C. Spillmann, Vandana Shashi, Alan H. Beggs, David A. Sweetser, David Chiang, Deepak A. Rao, Frances High, Ganesh Mochida, Gerard T. Berry, Ingrid A. Holm, J. Carl Pallais, Joseph Loscalzo, Lance H. Rodan, Lauren C. Briere, Melissa Walker, Tina Truong, Wendy Chung, Cecilia Esteves, Emily Glanton, Isaac S. Kohane, Kimberly LeBlanc, Shamil R. Sunyaev, Shilpa N. Kobren, Brett H. Graham, Erin Conboy, Francesco Vetrini, Kayla M. Treat, Khurram Liaqat, Lili Mantcheva, Stephanie M. Ware, Kathleen Page, Paul Auwaerter, Yuka Manabe, Carlos A. Pardo‐Villamizar, Julie Hoover‐Fong, Philip Dane Witmer, Winston Timp, Matthew Robinson, Zackary Dov Berger, Elizabeth Wohler, Nara Sobreira, Arian Nouraee, Carlos Prada, Erica Davis, Kai Lee Yap, Kelly Regan‐Fendt, María Paula Silva, Patrick McMullen, Breanna Mitchell, Brendan C. Lanpher, Devin Oglesbee, Eric Klee, Filippo Pinto, Ian R. Lanza, Kahlen Darr, Lindsay Mulvihill, Lisa Schimmenti, Queenie Tan, Surendra Dasari, Abdul Elkadri, Brett Bordini, Donald Basel, James Verbsky, Julie McCarrier, Michael Muriello, Michael T. Zimmermann, Adriana Rebelo, Carson A. Smith, Deborah Barbouth, Guney Bademci, Joanna M. Gonzalez, Kumarie Latchman, LéShon Peart, Mustafa Tekin, Nicholas Borja, Stephan Zuchner, Stephanie Bivona, Willa Thorson, Herman Taylor, Rakale C. Quarells, Ayuko Iverson, Bruce Gelb, Charlotte Cunningham‐Rundles, Eric Gayle, Joanna Jen, Louise Bier, Mafalda Barbosa, Manisha Balwani, Mariya Shadrina, Rachel Evard, Saskia Shuman, Susan Shin, Vaidehi Jobanputra, Andrea Gropman, Barbara N. Pusey Swerdzewski, Camilo Toro, Colleen E. Wahl, Donna Novacic, Ellen F. Macnamara, John J. Mulvihill, Maria T. Acosta, Precilla D'Souza, Valerie V. Maduro, Ben Afzali, Ben Solomon, Cynthia J. Tifft, David R. Adams, Elizabeth A. Burke, Francis Rossignol, Heidi Wood, Jiayu Fu, Joie Davis, Leoyklang Petcharet, Lynne A. Wolfe, Margaret Delgado, Marie Morimoto, Marla Sabaii, MayChristine V. Malicdan, Neil Hanchard, Orpa Jean‐Marie, Wendy Introne, William A. Gahl, Yan Huang, Andrew Stergachis, Danny E. Miller, Elisabeth Rosenthal, Elizabeth Blue, Elsa Balton, Emily Shelkowitz, Eric Allenspach, Fuki M. Hisama, Gail P. Jarvik, Ghayda Mirzaa, Ian Glass, Kathleen A. Leppig, Katrina Dipple, Mark Wener, Martha Horike‐Pyne, Michael Bamshad, Peter Byers, Seth Perlman, Sirisak Chanprasert, Virginia Sybert, Wendy Raskind, Nitsuh K. Dargie, Chun‐Hung Chan, Dr Francisco Bustos Velasquez, Isum Ward, Jason Schend, Jennifer Morgan, Megan Bell, Miranda Leitheiser, Mohamad Saifeddine, Paul Berger, Rachel Li, Taylor Beagle, Alexander Miller, Beatriz Anguiano, Beth A. Martin, Brianna Tucker, Chloe M. Reuter, Devon Bonner, Elijah Kravets, Hector Rodrigo Mendez, Holly K. Tabor, Jacinda B. Sampson, Jason Hom, Jennefer N. Kohler, Jennifer Schymick, John E. Gorzynski, Jonathan A. Bernstein, Kevin S. Smith, Laura Keehan, Laurens Wiel, Matthew T. Wheeler, Meghan C. Halley, Mia Levanto, Page C. Goddard, Paul G. Fisher, Rachel A. Ungar, Raquel L. Alvarez, Sara Emami, Shruti Marwaha, Stephen B. Montgomery, Suha Bachir, Tanner D. Jensen, Taylor Maurer, Terra R. Coakley, Euan A. Ashley, Anna Hurst, Brandon M. Wilk, Bruce Korf, Elizabeth A. Worthey, Kaitlin Callaway, Martin Rodriguez, Pongtawat Lertwilaiwittaya, Reaford Blackburn, Tammi Skelton, Tarun K. K. Mamidi, Teneasha Washington, Andrew B. Crouse, Jordan Whitlock, Mariko Nakano‐Okuno, Matthew Might, William E. Byrd, Albert R. La Spada, Changrui Xiao, Elizabeth C. Chao, Eric Vilain, Jose Abdenur, Kirsten Blanco, Maija‐Rikka Steenari, Rebekah Barrick, Richard Chang, Sanaz Attaripour, Suzanne Sandmeyer, Tahseen Mozaffar, Alden Huang, Andres Vargas, Bianca E. Russell, Brent L. Fogel, Esteban C. Dell'Angelica, George Carvalho, Julian A. Martínez‐Agosto, Layal F. Abi Farraj, Manish J. Butte, Martin G. Martin, Naghmeh Dorrani, Neil H. Parker, Rosario I. Corona, Stanley F. Nelson, Yigit Karasozen, Dana Sayer, Jennifer Tousseau, Aaron Quinlan, Alistair Ward, Ashley Andrews, Corrine K. Welt, Dave Viskochil, Erin E. Baldwin, John Carey, Justin Alvey, Lorenzo Botto, Nicola Longo, Paolo Moretti, Rebecca Overbury, Russell Butterfield, Steven Boyden, Thomas J. Nicholas, Matt Velinder, Gabor Marth, Pinar Bayrak‐Toydemir, Rong Mao, Monte Westerfield, John A. Phillips III, Kimberly Ezell, Lynette Rives, Rizwan Hamid, Alyson Krokosky, Ashley McMinn, Cathy Shyr, Eric Gamazon, Joy D. Cogan, Lakshitha Perera, Lisa Bastarache, Mary Koziura, Thomas Cassini, Alex Paul, Dana Kiley, Daniel Wegner, Erin McRoy, Jennifer Wambach, Kathy Sisco, Patricia Dickson, F. Sessions Cole, Dustin Baldridge, Jimann Shin, Lilianna Solnica‐Krezel, Stephen C. Pak, Timothy Schedl, Allen Bale, Carol Oladele, Caroline Hendry, Emily Wang, Hua Xu, Hui Zhang, Lauren Jeffries, María José Ortuño Romero, Mark Gerstein, Michele Spencer‐Manzon, Monkol Lek, Nada Derar, Odelya Kaufman, Shrikant Mane, Teodoro Jerves Serrano, Vasilis Vasiliou, Winston Halstead, Yong‐Hui Jiang, Matthew T. Wheeler, Jonathan A. Bernstein, Ash Alizadeh, Natalia Gomez‐Ospina +369 morewiley +1 more sourceHereditary Predisposition to Acute Myeloid Leukemia: A Novel Germline CEBPA Mutation in a Multigenerational Family
Case Reports in Hematology, Volume 2026, Issue 1, 2026.Acute myeloid leukemia (AML) is a heterogeneous hematologic malignancy driven by the accumulation of genetic alterations in hematopoietic progenitor cells. CEBPA variants have been linked to familial AML, although multigenerational cases have been infrequently reported.Nancy Aislinn Tónix-Ramírez, Eneida Sánchez-Medina, Luis Enrique Muñóz-Pérez, Raquel Hernández-Ramos, Claudia Guevara-Espejel, Elizabeth Bautista-Rodríguez, Federico Osorio-Antonio, Kalyani Sen +7 morewiley +1 more sourceLa Eneida en Thomas de Inglaterra
Cuadernos de Investigación Filológica, 2013 En el Tristán de Thomas se oyen a veces resonancias virgilianas y descubren esquemas e imágenes que evocan la Eneida, sin que sea fácil de establecer si se trata de imitación libre o de coincidencia ...Roberto Ruiz Capellándoaj +1 more sourceFunctional ability in cognitive complaints: The role of neuropsychiatric and cognitive factors in community‐dwelling older adults
Alzheimer's &Dementia: Behavior &Socioeconomics of Aging, Volume 1, Issue 4, December 2025.Abstract INTROCUTION
The relationship between functional ability and neuropsychiatric or cognitive factors in older adults with cognitive complaints (CCs) remains unexplored in Latin America. METHODS
Two hundred ninety community‐dwelling older adults with CCs were recruited.Gonzalo Forno, Pedro Zitko, Patricia Lillo, Daniela Thumala, Fernando Henriquez, Adolfo M. Garcia, Mauricio Cerda, Agustin Ibañez, David Martinez‐Pernia, Eneida Mioshi, Michael Homberger, Mauren Schmitter‐Edgecombe, Andrea Slachevsky +12 morewiley +1 more source
