2000 trio exome sequencing on research base: output and outlook

被引:0
|
作者
Golod, Alexandra [1 ]
Buettner, Benjamin [1 ]
Finck, Anja [1 ]
Kloeckner, Chiara [1 ]
Luppe, Johannes [1 ]
Martin, Sonja [1 ]
Rosenhahn, Erik [1 ]
Schliesske, Sophia [1 ]
Turban, Lydia [1 ]
von Wintzingerode, Lydia [1 ]
Wegler, Meret [1 ]
Lemke, Johannes [1 ]
Platzer, Konrad [1 ]
Hentschel, Julia [1 ]
Abou Jamra, Rami [1 ]
机构
[1] Inst Human Genet, Leipzig, Germany
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P09.066.B
引用
收藏
页码:476 / 476
页数:1
相关论文
共 50 条
  • [31] Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy
    Yechieli, Michal
    Gulsuner, Suleyman
    Ben-Pazi, Hilla
    Fattal, Aviva
    Aran, Adi
    Kuzminsky, Alla
    Sagi, Liora
    Guttman, Dafna
    Schneebaum Sender, Nira
    Gross-Tsur, Varda
    Klopstock, Tehila
    Walsh, Tom
    Renbaum, Paul
    Zeligson, Sharon
    Shemer Meiri, Lilach
    Lev, Dorit
    Shmueli, Dorit
    Blumkin, Luba
    Lahad, Amnon
    King, Mary-Claire
    Levy, Ephrat Lahad
    Segel, Reeval
    JOURNAL OF MEDICAL GENETICS, 2022, 59 (08) : 759 - 767
  • [32] Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data
    Kars, Meltem Ece
    Stein, David
    Stenson, Peter D.
    Cooper, David N.
    Chung, Wendy K.
    Gruber, Peter J.
    Seidman, Christine E.
    Shen, Yufeng
    Tristani-Firouzi, Martin
    Gelb, Bruce D.
    Itan, Yuval
    AMERICAN JOURNAL OF HUMAN GENETICS, 2025, 112 (03)
  • [33] Prenatal trio-based whole exome sequencing in fetuses with abnormalities of the skeletal system
    Yang Yang
    Min Wang
    Hao Wang
    Molecular Genetics and Genomics, 2022, 297 : 1017 - 1026
  • [34] The elucidation of the intrafamilial phenotypic heterogeneity of neurodevelopmental disorders by trio-based exome sequencing
    Wayhelova, Marketa
    Vallova, Vladimira
    Smetana, Jan
    Broz, Petr
    Mikulasova, Aneta
    Machackova, Dominika
    Gaillyova, Renata
    Kuglik, Petr
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 177 - 177
  • [35] Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool
    Tran Mau-Them, Frederic
    Delanne, Julian
    Denomme-Pichon, Anne-Sophie
    Safraou, Hana
    Bruel, Ange-Line
    Vitobello, Antonio
    Garde, Aurore
    Nambot, Sophie
    Bourgon, Nicolas
    Racine, Caroline
    Sorlin, Arthur
    Moutton, Sebastien
    Marle, Nathalie
    Rousseau, Thierry
    Sagot, Paul
    Simon, Emmanuel
    Vincent-Delorme, Catherine
    Boute, Odile
    Colson, Cindy
    Petit, Florence
    Legendre, Marine
    Naudion, Sophie
    Rooryck, Caroline
    Prouteau, Clement
    Colin, Estelle
    Guichet, Agnes
    Ziegler, Alban
    Bonneau, Dominique
    Morel, Godelieve
    Fradin, Melanie
    Lavillaureix, Alinoe
    Quelin, Chloe
    Pasquier, Laurent
    Odent, Sylvie
    Vera, Gabriella
    Goldenberg, Alice
    Guerrot, Anne-Marie
    Brehin, Anne-Claire
    Putoux, Audrey
    Attia, Jocelyne
    Abel, Carine
    Blanchet, Patricia
    Wells, Constance F.
    Deiller, Caroline
    Nizon, Mathilde
    Mercier, Sandra
    Vincent, Marie
    Isidor, Bertrand
    Amiel, Jeanne
    Dard, Rodolphe
    FRONTIERS IN GENETICS, 2023, 14
  • [36] Rapid Trio exome sequencing in a tertiary fetal medicine centre in East-London
    Baltoaica, Lucius
    Bower, Sarah
    Malva, Eklund
    Greco, Elena
    BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2022, 129 : 30 - 30
  • [37] Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios
    Lin, Shin-Yu
    Chuang, Gwo-Tsann
    Hung, Chien-Hui
    Lin, Wei-Chou
    Jeng, Yung-Ming
    Yen, Ting-An
    Chang, Karine
    Chien, Yin-Hsiu
    Hwu, Wuh-Liang
    Lee, Chien-Nan
    Tsai, I-Jung
    Lee, Ni-Chung
    FRONTIERS IN GENETICS, 2021, 12
  • [38] Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases
    Mau-Them, Frederic Tran
    Duffourd, Yannis
    Vitobello, Antonio
    Bruel, Ange-Line
    Denomme-Pichon, Anne-Sophie
    Nambot, Sophie
    Delanne, Julian
    Moutton, Sebastien
    Sorlin, Arthur
    Couturier, Victor
    Bourgeois, Valentin
    Chevarin, Martin
    Poe, Charlotte
    Mosca-Boidron, Anne-Laure
    Callier, Patrick
    Safraou, Hana
    Faivre, Laurence
    Philippe, Christophe
    Thauvin-Robinet, Christel
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (12):
  • [39] Diagnostic yield of chromosomal microarray and trio whole exome sequencing in congenital brain anomalies
    Fonova, E. A.
    Kashevarova, A. A.
    Lopatkina, M. E.
    Sivtsev, A. A.
    Zarubin, A. A.
    Demeneva, V. V.
    Seitova, G. N.
    Minaycheva, L. I.
    Salyukova, O. A.
    Fadyushina, S. V.
    Petrova, V. V.
    Belyaeva, E. O.
    Nazarenko, L. P.
    Lebedev, I. N.
    EUROPEAN PSYCHIATRY, 2023, 66 : S887 - S887
  • [40] Trio-based whole-exome sequencing of 200 Chinese patients with keratoconus
    Li, Xingyong
    Yao, Yinghao
    Xing, Shilai
    Zheng, Yi-Han
    Zhou, Yang
    Yu, Xiaoguang
    Su, Jianzhong
    Chen, Shihao
    Jin, Zi-Bing
    EXPERIMENTAL EYE RESEARCH, 2024, 248