Utilization of clinical diagnostic exome sequencing for the molecular diagnosis of mitochondrial disorders and therapeutic implications

被引：0
|
作者：
Tang, Sha [1 ]
Gonzalez, Kelly D. F. [1 ]
Zeng, Wenqi [1 ]
Shahmirzadi, Layla [1 ]
Wei, Jennifer J. [1 ]
Li, Xiang [1 ]
Chao, Elizabeth C. [1 ,2 ]
机构：
[1] Ambry Genet, Aliso Viejo, CA 92656 USA
[2] Univ Calif Irvine, Dept Pediat, Irvine, CA 92697 USA
来源：
MITOCHONDRION | 2013年 / 13卷 / 06期
关键词：
D O I：
10.1016/j.mito.2013.07.057
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
62
引用
收藏
页码：919 / 920
页数：2
相关论文
共 50 条
  • [31] Diagnostic value of partial exome sequencing in developmental disorders
    Gieldon, Laura
    Mackenroth, Luisa
    Kahlert, Anne-Karin
    Lemke, Johannes R.
    Porrmann, Joseph
    Schallner, Jens
    von der Hagen, Maja
    Markus, Susanne
    Weidensee, Sabine
    Novotna, Barbara
    Soerensen, Charlotte
    Klink, Barbara
    Wagner, Johannes
    Tzschach, Andreas
    Jahn, Arne
    Kuhlee, Franziska
    Hackmann, Karl
    Schrock, Evelin
    Di Donato, Nataliya
    Rump, Andreas
    PLOS ONE, 2018, 13 (08):
  • [32] High Yield of Clinical Exome Sequencing as a primary molecular diagnostic tool in Adults
    Phowthongkum, P.
    Shotelersuk, V.
    Suphapeetiporn, K.
    Srijomtong, C.
    Ittiwut, C.
    Kamolvisit, W.
    Damrongphol, P.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 498 - 498
  • [33] High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders
    Yavarna, Tarunashree
    Al-Dewik, Nader
    Al-Mureikhi, Mariam
    Ali, Rehab
    Al-Mesaifri, Fatma
    Mahmoud, Laila
    Shahbeck, Noora
    Lakhani, Shenela
    AlMulla, Mariam
    Nawaz, Zafar
    Vitazka, Patrik
    Alkuraya, Fowzan S.
    Ben-Omran, Tawfeg
    HUMAN GENETICS, 2015, 134 (09) : 967 - 980
  • [34] High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders
    Tarunashree Yavarna
    Nader Al-Dewik
    Mariam Al-Mureikhi
    Rehab Ali
    Fatma Al-Mesaifri
    Laila Mahmoud
    Noora Shahbeck
    Shenela Lakhani
    Mariam AlMulla
    Zafar Nawaz
    Patrik Vitazka
    Fowzan S. Alkuraya
    Tawfeg Ben-Omran
    Human Genetics, 2015, 134 : 967 - 980
  • [35] Clinical exome sequencing in neurogenetic and neuropsychiatric disorders
    Fogel, Brent L.
    Lee, Hane
    Strom, Samuel P.
    Deignan, Joshua L.
    Nelson, Stanley F.
    SPECIAL ISSUE: THE YEAR IN NEUROLOGY AND PSYCHIATRY, 2016, 1366 : 49 - 60
  • [36] Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing
    Walker, Ruth H.
    Schulz, Vincent P.
    Tikhonova, Irina R.
    Mahajan, Milind C.
    Mane, Shrikant
    Muniz, Maritza Arroyo
    Gallagher, Patrick G.
    MOVEMENT DISORDERS, 2012, 27 (04) : 539 - 543
  • [37] Identification of extremely rare mitochondrial disorders by whole exome sequencing
    Go Hun Seo
    Arum Oh
    Eun Na Kim
    Yeonmi Lee
    Jumi Park
    Taeho Kim
    Young-Min Lim
    Gu-Hwan Kim
    Chong Jai Kim
    Han-Wook Yoo
    Eunju Kang
    Beom Hee Lee
    Journal of Human Genetics, 2019, 64 : 1117 - 1125
  • [38] Identification of extremely rare mitochondrial disorders by whole exome sequencing
    Seo, Go Hun
    Oh, Arum
    Kim, Eun Na
    Lee, Yeonmi
    Park, Jumi
    Kim, Taeho
    Lim, Young-Min
    Kim, Gu-Hwan
    Kim, Chong Jai
    Yoo, Han-Wook
    Kang, Eunju
    Lee, Beom Hee
    JOURNAL OF HUMAN GENETICS, 2019, 64 (11) : 1117 - 1125
  • [39] Clinical application of whole exome and clinical exome sequencing as a diagnostic tool in Colombian population
    Munoz-Bolanos, A. J.
    Maradei, S. J.
    Bernal, I. T.
    Gomez, Y. M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 713 - 713
  • [40] Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders
    Mau-Them, Frederic Tran
    Moutton, Sebastien
    Racine, Caroline
    Vitobello, Antonio
    Bruel, Ange-Line
    Nambot, Sophie
    Kushner, Steven A.
    de Vrij, Femke M. S.
    Lehalle, Daphne
    Jean-Marcais, Nolwenn
    Lecoquierre, Francois
    Delanne, Julian
    Thevenon, Julien
    Poe, Charlotte
    Jouan, Thibaut
    Chevarin, Martin
    Genevieve, David
    Willems, Marjolaine
    Coubes, Christine
    Houcinat, Nada
    Masurel-Paulet, Alice
    Mosca-Boidron, Anne-Laure
    Tisserant, Emilie
    Callier, Patrick
    Sorlin, Arthur
    Duffourd, Yannis
    Faivre, Laurence
    Philippe, Christophe
    Thauvin-Robinet, Christel
    HUMAN GENETICS, 2020, 139 (11) : 1381 - 1390
12345