Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Sujay Kansagra"'
Autor:
Harrison N. Jones, Samuela Fernandes, William B. Hannah, Sujay Kansagra, Eileen M. Raynor, Priya S. Kishnani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)
Externí odkaz:
https://doaj.org/article/2c4f3909c6954458a7bedeacb22cbb89
Autor:
Matthew M. Engelhard, Scott H. Kollins, Sujay Kansagra, Ke Will Wang, Jessica R. Lunsford-Avery
Publikováno v:
J Clin Sleep Med
STUDY OBJECTIVES: Caffeine use is ubiquitous among adolescents and may be harmful to sleep, with downstream implications for health and development. Research has been limited by self-reported and/or aggregated measures of sleep and caffeine collected
Autor:
Sujay Kansagra
Publikováno v:
Pediatrics. 145:S204-S209
Chronic sleep deprivation is a common, treatable condition among adolescents. Growing literature supports a myriad consequences that impact overall health, behavior, mood, and academic performance in this vulnerable age group during a time when there
Autor:
Scott, Barish, Mumine, Senturk, Kelly, Schoch, Amanda L, Minogue, Diego, Lopergolo, Chiara, Fallerini, Jake, Harland, Jacob H, Seemann, Nicholas, Stong, Peter G, Kranz, Sujay, Kansagra, Mohamad A, Mikati, Joan, Jasien, Mays, El-Dairi, Paolo, Galluzzi, Francesca, Ariani, Alessandra, Renieri, Francesca, Mari, Michael F, Wangler, Swathi, Arur, Yong-Hui, Jiang, Shinya, Yamamoto, Vandana, Shashi, Stephan, Zuchner
Publikováno v:
Hum Mol Genet
DROSHA encodes a ribonuclease that is a subunit of the Microprocessor complex and is involved in the first step of microRNA (miRNA) biogenesis. To date, DROSHA has not yet been associated with a Mendelian disease. Here, we describe two individuals wi
Autor:
Tahir N. Khan, Kamal Khan, Azita Sadeghpour, Hannah Reynolds, Yezmin Perilla, Marie T. McDonald, William B. Gallentine, Shahid M. Baig, Erica E. Davis, Nicholas Katsanis, Alexander Allori, Misha Angrist, Patricia Ashley, Margarita Bidegain, Brita Boyd, Eileen Chambers, Heidi Cope, C. Michael Cotten, Theresa Curington, Sarah Ellestad, Kimberley Fisher, Amanda French, William Gallentine, Ronald Goldberg, Kevin Hill, Sujay Kansagra, Sara Katsanis, Joanne Kurtzberg, Jeffrey Marcus, Marie McDonald, Mohammed Mikati, Stephen Miller, Amy Murtha, Carolyn Pizoli, Todd Purves, Sherry Ross, Edward Smith, John Wiener
Publikováno v:
The American Journal of Human Genetics. 104:94-111
The use of whole-exome and whole-genome sequencing has been a catalyst for a genotype-first approach to diagnostics. Under this paradigm, we have implemented systematic sequencing of neonates and young children with a suspected genetic disorder. Here
Autor:
Roger E. McLendon, Mohamad A. Mikati, Eric Arehart, Rodney A. Radtke, Edward C. Smith, Elie Abdelnour, Sujay Kansagra, Carolyn Pizoli, William Gallentine, Anthony Pecoraro
Publikováno v:
Epilepsy & Behavior. 73:137-141
Objectives To describe the characteristics of epilepsy in patients with Neurofibromatosis type 1 (NF1). Methods Analysis of a cohort of consecutive NF1 patients seen in our NF1 clinic during a three-year period. Results Of the 184 NF1 patients seen d
Autor:
Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David R. Bearden, Asbjorg Stray-Pedersen, Oyvind L. Busk, Nicholas Stong, Eriskay Liston, Ronald D. Cohn, Fernando Scaglia, Jill A. Rosenfeld, Jennifer Tarpinian, Cara M. Skraban, Matthew A. Deardorff, Jeremy N. Friedman, Zeynep Coban Akdemir, Nicole Walley, Mohamad A. Mikati, Peter G. Kranz, Joan Jasien, Allyn McConkie-Rosell, Marie McDonald, Stephanie Burns Wechsler, Michael Freemark, Sujay Kansagra, Sharon Freedman, Deeksha Bali, Francisca Millan, Sherri Bale, Stanley F. Nelson, Hane Lee, Naghmeh Dorrani, David B. Goldstein, Rui Xiao, Yaping Yang, Jennifer E. Posey, Julian A. Martinez-Agosto, James R. Lupski, Michael F. Wangler, Vandana Shashi, Wayne W. Grody, Samuel P. Strom, Eric Vilain, Joshua Deignan, Fabiola Quintero-Rivera, Sibel Kantarci, Sureni Mullegama, Sung-Hae Kang, Mercedes E. Alejandro, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Gary D. Clark, William J. Craigen, Shweta U. Dhar, Lisa T. Emrick, Brett H. Graham, Neil A. Hanchard, Mahim Jain, Seema R. Lalani, Brendan H. Lee, Richard A. Lewis, Azamian S. Mashid, Paolo M. Moretti, Sarah K. Nicholas, Jordan S. Orange, Lorraine Potocki, Daryl A. Scott, Alyssa A. Tran, Hugo J. Bellen, Shinya Yamamoto, Christine M. Eng, Donna M. Muzny, Patricia A. Ward, Andrea L. Gropman, Yong-hui Jiang, Loren D.M. Pena, Rebecca C. Spillmann, Jennifer A. Sullivan, Nicole M. Walley, Alan H. Beggs, Lauren C. Briere, Cynthia M. Cooper, Laurel A. Donnell-Fink, Elizabeth L. Krieg, Joel B. Krier, Sharyn A. Lincoln, Joseph Loscalzo, Richard L. Maas, Calum A. MacRae, J. Carl Pallais, Lance H. Rodan, Edwin K. Silverman, Joan M. Stoler, David A. Sweetser, Chris A. Walsh, Cecilia Esteves, Ingrid A. Holm, Isaac S. Kohane, Paul Mazur, Alexa T. McCray, Matthew Might, Rachel B. Ramoni, Kimberly Splinter, David P. Bick, Camille L. Birch, Braden E. Boone, Donna M. Brown, Dan C. Dorset, Lori H. Handley, Howard J. Jacob, Angela L. Jones, Jozef Lazar, Shawn E. Levy, J. Scott Newberry, Molly C. Schroeder, Kimberly A. Strong, Elizabeth A. Worthey, Jyoti G. Dayal, David J. Eckstein, Sarah E. Gould, Ellen M. Howerton, Donna M. Krasnewich, Carson R. Loomis, Laura A. Mamounas, Teri A. Manolio, John J. Mulvihill, Anastasia L. Wise, Ariane G. Soldatos, Matthew Brush, Jean-Philippe F. Gourdine, Melissa Haendel, David M. Koeller, Jennifer E. Kyle, Thomas O. Metz, Katrina M. Waters, Bobbie-Jo M. Webb-Robertson, Euan A. Ashley, Jonathan A. Bernstein, Annika M. Dries, Paul G. Fisher, Jennefer N. Kohler, Daryl M. Waggott, Matt T. Wheeler, Patricia A. Zornio, Patrick Allard, Hayk Barseghyan, Esteban C. Dell’Angelica, Katrina M. Dipple, Matthew R. Herzog, Stan F. Nelson, Christina G.S. Palmer, Jeanette C. Papp, Janet S. Sinsheimer, Christopher J. Adams, Elizabeth A. Burke, Katherine R. Chao, Mariska Davids, David D. Draper, Tyra Estwick, Trevor S. Frisby, Kate Frost, Valerie Gartner, Rena A. Godfrey, Mitchell Goheen, Gretchen A. Golas, Mary 'Gracie' G. Gordon, Catherine A. Groden, Mary E. Hackbarth, Isabel Hardee, Jean M. Johnston, Alanna E. Koehler, Lea Latham, Yvonne L. Latour, C. Christopher Lau, Denise J. Levy, Adam P. Liebendorder, Ellen F. Macnamara, Valerie V. Maduro, Thomas C. Markello, Alexandra J. McCarty, Jennifer L. Murphy, Michele E. Nehrebecky, Donna Novacic, Barbara N. Pusey, Sarah Sadozai, Katherine E. Schaffer, Prashant Sharma, Sara P. Thomas, Nathanial J. Tolman, Camilo Toro, Zaheer M. Valivullah, Colleen E. Wahl, Mike Warburton, Alec A. Weech, Guoyun Yu, David R. Adams, William A. Gahl, May Christine V. Malicdan, Cynthia J. Tifft, Lynne A. Wolfe, Paul R. Lee, John H. Postlethwait, Monte Westerfield, Anna Bican, Rizwan Hamid, John H. Newman, John A. Phillips, Amy K. Robertson, Joy D. Cogan
Publikováno v:
The American Journal of Human Genetics. 100:343-351
Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a n
Autor:
Edward C. Smith, Liwen Wang, Shalini N. Jhangiani, B. Kim Andrews, Alexander C. Allori, Adam W. Hansen, Sherry S. Ross, Sarah Ellestad, Brita Boyd, Joanne Kurtzberg, Fritz J. Sedlazeck, V. Reid Sutton, Eric Boerwinkle, Erica E. Davis, Jill A. Rosenfeld, Aniko Sabo, Jennifer E. Posey, C. Michael Cotten, Jeffrey R. Marcus, Yezmin Perilla, James R. Lupski, Richard A. Gibbs, Mohammed Mikati, John S. Wiener, Heidi L. Cope, Michael M. Khayat, Pengfei Liu, Misha Angrist, Sara H. Katsanis, Sujay Kansagra, Stephen Miller, William Gallentine, Amanda French, Nicholas Katsanis, Mullai Murugan, Eileen Chambers, Allison E. Ashley-Koch, Theresa Curington, Amy P. Murtha, He Li, Patricia L. Ashley, Donna M. Muzny, Kimberley A. Fisher, Zeynep Coban Akdemir, Kevin D. Hill, Azita Sadeghpour, Margarita Bidegain, Todd Purves, Michael F. Wangler, Carolyn Pizoli, Christine M. Eng, Yaping Yang, Ronald N. Goldberg, Marie T. McDonald
Publikováno v:
Am J Hum Genet
The advent of inexpensive, clinical exome sequencing (ES) has led to the accumulation of genetic data from thousands of samples from individuals affected with a wide range of diseases, but for whom the underlying genetic and molecular etiology of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f874576161d739d85d6b845742fe3d2
https://europepmc.org/articles/PMC6849092/
https://europepmc.org/articles/PMC6849092/
Autor:
Lal Devayani Vasudevan Nair, Anthonie J. van Essen, Vandana Shashi, Nuria C. Bramswig, Sujay Kansagra, Candace T. Myers, Vincenzo Leuzzi, Kelly Schoch, Maria Lisa Dentici, Susan M. White, Mario Mastrangelo, Ingrid E. Scheffer, Georg Christoph Korenke, Philippe M. Campeau
Publikováno v:
Epileptic disorders, 18(2), 123-136. JOHN LIBBEY EUROTEXT
Aim. KCNH1 mutations have been identified in patients with Zimmermann-Laband syndrome and Temple-Baraitser syndrome, as well as patients with uncharacterized syndromes with intellectual disability and overlapping features. These syndromes include dys
Autor:
William B. Hannah, Eileen M. Raynor, Priya S. Kishnani, Sujay Kansagra, Harrison N. Jones, Samuela A. Fernandes
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 23, Iss, Pp-(2020)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports