Diagnostic yield of chromosomal microarray and trio whole exome sequencing in congenital brain anomalies

被引：0
|
作者：
Fonova, E. A. [1 ]
Kashevarova, A. A. [1 ]
Lopatkina, M. E. [1 ]
Sivtsev, A. A. [1 ]
Zarubin, A. A. [1 ]
Demeneva, V. V. [1 ]
Seitova, G. N. [1 ]
Minaycheva, L. I. [1 ]
Salyukova, O. A. [1 ]
Fadyushina, S. V. [1 ]
Petrova, V. V. [1 ]
Belyaeva, E. O. [1 ]
Nazarenko, L. P. [1 ]
Lebedev, I. N. [1 ]
机构：
[1] Tomsk Natl Res Med Ctr, Res Inst Med Genet, Tomsk, Russia
来源：
EUROPEAN PSYCHIATRY | 2023年 / 66卷
关键词：
D O I：
10.1192/j.eurpsy.2023.1879
中图分类号：
R749 [精神病学];
学科分类号：
100205 ;
摘要：
EPV0552
引用
收藏
页码：S887 / S887
页数：1
相关论文
共 50 条
  • [31] Diagnostic yield and benefits of whole-exome sequencing in patients with congenital anomalies of the kidney and urinary tract (CAKUT) diagnosed in the first thousand days of life
    Werfel, Lina
    Martens, Helge
    Hennies, Imke
    Gjerstad, Ann Christin
    Froede, Kerstin
    Altarescu, Gheona
    Banerjee, Sushmita
    Palafoll, Irene Valenzuela
    Geffers, Robert
    Kirschstein, Martin
    Christians, Anne
    Bjerre, Anna
    Haffner, Dieter
    Weber, Ruthild
    PEDIATRIC NEPHROLOGY, 2023, 38 (07) : 2283 - 2283
  • [32] DIAGNOSTIC YIELD AND BENEFITS OF WHOLE-EXOME SEQUENCING IN PATIENTS WITH CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT (CAKUT) DIAGNOSED IN THE FIRST THOUSAND DAYS OF LIFE
    Werfel, Lina
    Martens, Helge
    Hennies, Imke
    Christians, Anne
    Gjerstad, Ann Christin
    Froede, Kerstin
    Ludwikowski, Barbara Magda
    Geffers, Robert
    Billing, Heiko
    Kirschstein, Martin
    Hofmann, Alejandro D.
    Bjerre, Anna
    Haffner, Dieter
    Weber, Ruthild G.
    PEDIATRIC NEPHROLOGY, 2021, 36 (10) : 3372 - 3372
  • [33] Diagnostic yield and benefits of whole-exome sequencing in patients with congenital anomalies of the kidney and urinary tract (CAKUT) diagnosed in the first thousand days of life
    Werfel, Lina
    Martens, Helge
    Hennies, Imke
    Christians, Anne
    Gjerstad, Ann Christin
    Froede, Kerstin
    Ludwikowski, Barbara M.
    Geffers, Robert
    Billing, Heiko
    Kirschstein, Martin
    Hofmann, Alejandro D.
    Bjerre, Anna
    Haffner, Dieter
    Weber, Ruthild G.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 79 - 79
  • [34] Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective
    Felipe Franco da Graça
    Thiago M. Peluzzo
    Luciana Cardoso Bonadia
    Alberto Rolim Muro Martinez
    Fabricio Diniz de Lima
    José Luiz Pedroso
    Orlando G. P. Barsottini
    Maria Thereza Drummond Gama
    Fulya Akçimen
    Patrick A. Dion
    Guy A. Rouleau
    Wilson Marques
    Marcondes Cavalcante França
    The Cerebellum, 2022, 21 : 49 - 54
  • [35] Apparently isolated trigonocephaly: diagnostic yield thanks to Whole Exome Sequencing
    Di Giovanni, F.
    Gori, G.
    Traficante, G.
    Dosa, L.
    Forzano, G.
    Fiorentini, E.
    Vergani, D.
    Giglio, S.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 637 - 637
  • [36] Frequency and Diagnostic Yield of Mosaic Variation Identified by Whole Exome Sequencing
    Miller, C. R.
    Zmuda, E.
    Corsmeier, D. J.
    Fisher, M.
    Magrini, V.
    Reshmi, S. C.
    Gastier-Foster, J. M.
    Cottrell, C. E.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2018, 20 (06): : 895 - 895
  • [37] Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective
    da Graca, Felipe Franco
    Peluzzo, Thiago M.
    Bonadia, Luciana Cardoso
    Martinez, Alberto Rolim Muro
    Diniz de Lima, Fabricio
    Pedroso, Jose Luiz
    Barsottini, Orlando G. P.
    Gama, Maria Thereza Drummond
    Akcimen, Fulya
    Dion, Patrick A.
    Rouleau, Guy A.
    Marques, Wilson, Jr.
    Franca Jr, Marcondes Cavalcante
    CEREBELLUM, 2022, 21 (01): : 49 - 54
  • [38] Diagnostic yield of whole-exome sequencing in neuroregression in a Colombian cohort
    Galvez, Marcela
    Bello, Sandra
    Garzon, Eliana
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 207 - 207
  • [39] Prenatal diagnostic exome sequencing analysis in 207 fetuses with congenital CNS anomalies
    Kalanithy, Jeshurun Chiaran
    Thiele, Holger
    Waffenschmidt, Lea
    Stegmann, Jil D.
    Schneider, Sophia
    Reutter, Heiko
    Merz, Waltraut
    Dworschak, Gabriel
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 502 - 502
  • [40] Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies
    Jin, Pengzhen
    Hong, Jiawei
    Xu, Yuqing
    Qian, Yeqing
    Han, Shuning
    Dong, Minyue
    BMC PREGNANCY AND CHILDBIRTH, 2024, 24 (01)
12345