Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders

被引：0
作者：
Abigail S. Carey
John P. Schacht
Christine Umandap
David Fasel
Chunhua Weng
Joshua Cappell
Wendy K. Chung
Steven G. Kernie
机构：
[1] Columbia University,Division of Pediatric Critical Care Medicine
[2] Columbia University,Department of Pediatrics
[3] Columbia University,Vagelos College of Physicians & Surgeons, NewYork
[4] Columbia University,Presbyterian Morgan Stanley Children’s Hospital
[5] Columbia University,Division of Molecular Genetics
来源：
Pediatric Research | 2020年 / 88卷
关键词：
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：761 / 768
页数：7
相关论文
共 50 条
  • [1] Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders
    Carey, Abigail S.
    Schacht, John P.
    Umandap, Christine
    Fasel, David
    Weng, Chunhua
    Cappell, Joshua
    Chung, Wendy K.
    Kernie, Steven G.
    PEDIATRIC RESEARCH, 2020, 88 (05) : 761 - 768
  • [2] Exome sequencing for neurological disorders
    Vance, J.
    Tekin, M.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2017, 381 : 21 - 21
  • [3] Evaluation of genetic variants in new-onset hidradenitis suppurativa patients by exome sequencing
    Posch, C.
    Ahn, R.
    Wiala, A.
    Rappersberger, K.
    Liao, W.
    EXPERIMENTAL DERMATOLOGY, 2019, 28 (03) : E43 - E43
  • [4] Impact of new-onset and preexisting neurological disorders in COVID-19 patients
    Lindemann, Sarah
    Boehm, Markus
    Gonnert, Falk
    Boesel, Julian
    Schubert, Roger
    Musleh, Rita
    Guenther, Albrecht
    BRAIN AND BEHAVIOR, 2023, 13 (07):
  • [5] Rapid exome sequencing for children with acute cardiomyopathy in the PICU - a case series
    Hershkovitz, Tova
    Habib, Clair
    Paperna, Tamar
    Zaid, Rinat
    Ben Ari, Josef
    Tal, Galit
    Khoury, Asaad
    Weiss, Karin
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 150 - 150
  • [6] Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China
    Liu, Yingchao
    Hao, Chanjuan
    Li, Kechun
    Hu, Xuyun
    Gao, Hengmiao
    Zeng, Jiansheng
    Guo, Ruolan
    Liu, Jun
    Guo, Jun
    Li, Zheng
    Qi, Zhan
    Jia, Xinlei
    Li, Wei
    Qian, Suyun
    FRONTIERS IN GENETICS, 2021, 12
  • [7] Diagnostic Exome Sequencing in Adolescents with Neurological and Neurodevelopmental Disorders
    Blanco, Kirsten
    Powis, Zoe
    Hagman, Kelly D. F.
    Weltmer, Elaine C.
    Tang, Sha
    NEUROLOGY, 2018, 90
  • [8] Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders
    Isabel Alvarez-Mora, Maria
    Rodriguez-Revenga, Laia
    Jodar, Meritxell
    Potrony, Miriam
    Sanchez, Aurora
    Badenas, Celia
    Oriola, Josep
    Villanueva-Canas, Jose Luis
    Munoz, Esteban
    Valldeoriola, Francesc
    Camara, Ana
    Compta, Yaroslau
    Carreno, Mar
    Jose Marti, Maria
    Sanchez-Valle, Raquel
    Madrigal, Irene
    GENES, 2023, 14 (04)
  • [9] Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disorders
    Sainio, Markus T.
    Aaltio, Juho
    Hyttinen, Virva
    Kortelainen, Mika
    Ojanen, Simo
    Paetau, Anders
    Tienari, Pentti
    Ylikallio, Emil
    Auranen, Mari
    Tyynismaa, Henna
    ACTA NEUROLOGICA SCANDINAVICA, 2022, 145 (01): : 63 - 72
  • [10] WHOLE EXOME SEQUENCING AS A DIAGNOSTIC TOOL FOR COMPLEX NEUROLOGICAL DISORDERS
    Frederix, G. W.
    Monroe, G.
    Hovels, A. M.
    van Haaften, G.
    VALUE IN HEALTH, 2014, 17 (07) : A396 - A396
12345