Use of ultra-rapid whole-exome sequencing to diagnose congenital central hypoventilation syndrome.

作者: Shivanthan Shanthikumar , Ajay Kevat , Rachel Stapleton , Sebastian Lunke , Zornitza Stark

DOI: 10.1002/PPUL.24686

关键词:

摘要:

参考文章(6)
Debra E. Weese-Mayer, Elizabeth M. Berry-Kravis, Isabella Ceccherini, Thomas G. Keens, Darius A. Loghmanee, Ha Trang, An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome: Genetic Basis, Diagnosis, and Management American Journal of Respiratory and Critical Care Medicine. ,vol. 181, pp. 626- 644 ,(2010) , 10.1164/RCCM.200807-1069ST
Laurel K Willig, Josh E Petrikin, Laurie D Smith, Carol J Saunders, Isabelle Thiffault, Neil A Miller, Sarah E Soden, Julie A Cakici, Suzanne M Herd, Greyson Twist, Aaron Noll, Mitchell Creed, Patria M Alba, Shannon L Carpenter, Mark A Clements, Ryan T Fischer, J Allyson Hays, Howard Kilbride, Ryan J McDonough, Jamie L Rosterman, Sarah L Tsai, Lee Zellmer, Emily G Farrow, Stephen F Kingsmore, Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings The Lancet Respiratory Medicine. ,vol. 3, pp. 377- 387 ,(2015) , 10.1016/S2213-2600(15)00139-3
Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar Magoulas, Andrew Ray Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V Dharmadhikari, Chunjing Qu, Patricia Ward, Alicia Braxton, Swetha Narayanan, Xiaoyan Ge, Mari J Tokita, Teresa Santiago-Sim, Hongzheng Dai, Theodore Chiang, Hadley Smith, Mahshid S Azamian, Laurie Robak, Bret L Bostwick, Christian P Schaaf, Lorraine Potocki, Fernando Scaglia, Carlos A Bacino, Neil A Hanchard, Michael F Wangler, Daryl Scott, Chester Brown, Jianhong Hu, John W Belmont, Lindsay C Burrage, Brett H Graham, Vernon Reid Sutton, William J Craigen, Sharon E Plon, James R Lupski, Arthur L Beaudet, Richard A Gibbs, Donna M Muzny, Marcus J Miller, Xia Wang, Magalie S Leduc, Rui Xiao, Pengfei Liu, Chad Shaw, Magdalena Walkiewicz, Weimin Bi, Fan Xia, Brendan Lee, Christine M Eng, Yaping Yang, Seema R Lalani, None, Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management JAMA Pediatrics. ,vol. 171, ,(2017) , 10.1001/JAMAPEDIATRICS.2017.3438
Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Paediatric genomics: diagnosing rare disease in children. Nature Reviews Genetics. ,vol. 19, pp. 253- 268 ,(2018) , 10.1038/NRG.2017.116
Zornitza Stark, , Sebastian Lunke, Gemma R Brett, Natalie B Tan, Rachel Stapleton, Smitha Kumble, Alison Yeung, Dean G Phelan, Belinda Chong, Miriam Fanjul-Fernandez, Justine E Marum, Matthew Hunter, Anna Jarmolowicz, Yael Prawer, Jessica R Riseley, Matthew Regan, Justine Elliott, Melissa Martyn, Stephanie Best, Tiong Y Tan, Clara L Gaff, Susan M White, Meeting the challenges of implementing rapid genomic testing in acute pediatric care. Genetics in Medicine. ,vol. 20, pp. 1554- 1563 ,(2018) , 10.1038/GIM.2018.37
Stephen F. Kingsmore, Julie A. Cakici, Michelle M. Clark, Mary Gaughran, Michele Feddock, Sergey Batalov, Matthew N. Bainbridge, Jeanne Carroll, Sara A. Caylor, Christina Clarke, Yan Ding, Katarzyna Ellsworth, Lauge Farnaes, Amber Hildreth, Charlotte Hobbs, Kiely James, Cyrielle I. Kint, Jerica Lenberg, Shareef Nahas, Lance Prince, Iris Reyes, Lisa Salz, Erica Sanford, Peter Schols, Nathaly Sweeney, Mari Tokita, Narayanan Veeraraghavan, Kelly Watkins, Kristen Wigby, Terence Wong, Shimul Chowdhury, Meredith S. Wright, David Dimmock, Zaira Bezares, Cinnamon Bloss, Joshua J.A. Braun, Carlos Diaz, Dana Mashburn, Dorjee Tamang, Daniken Orendain, Jenni Friedman, Joe Gleeson, Jaime Barea, George Chiang, Casey Cohenmeyer, Nicole G. Coufal, Marva Evans, Jose Honold, Raymond L. Hovey, Amy Kimball, Brian Lane, Crystal Le, Jennie Le, Sandra Leibel, Laurel Moyer, Patrick Mulrooney, Daeheon Oh, Paulina Ordonez, Albert Oriol, Maria Ortiz-Arechiga, Laura Puckett, Mark Speziale, Denise Suttner, Lucitia Van Der Kraan, Gail Knight, Charles Sauer, Richard Song, Sarah White, Audra Wise, Catherine Yamada, A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants The American Journal of Human Genetics. ,vol. 105, pp. 719- 733 ,(2019) , 10.1016/J.AJHG.2019.08.009