Whole exome sequencing identifies novel genetic variants associated with syndromic Tetralogy of Fallot

被引：0
作者：
Toth-Szumutku, Fanni [1 ]
Kun, Ilona [1 ]
Lengyel, Anna [1 ]
Pinti, Eva [1 ]
Nemeth, Krisztina [1 ]
Abonyi, Tunde [1 ]
Ryu, Seung Woo [2 ]
Song, Yongjun [2 ]
Kis, Eva [3 ]
Ablonczy, Laszlo [3 ]
Goda, Vera [4 ]
Krivan, Gergely [4 ]
Haltrich, Iren [1 ]
Kovacs, Arpad Ferenc [1 ]
机构：
[1] Semmelweis Univ, Tuzolto St Dept, Pediat Ctr, Budapest, Hungary
[2] Billion Inc, Seoul, South Korea
[3] Gottsegen Natl Cardiovascular Ctr, Budapest, Hungary
[4] Natl Inst Hematol & Infect Dis, Cent Hosp Southern Pest, Budapest, Hungary
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷
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：
P07.021.A
引用
收藏
页码：1392 / 1392
页数：1
相关论文
共 50 条
  • [31] Whole-Exome Sequencing in Evaluation of Thrombophilia: Characterization of Novel Genetic Variants
    Gu, Sean
    Shevell, Lauren
    Tormey, Christopher
    Rinder, Henry
    Lee, Alfred
    [J]. AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 2019, 152 : S35 - S35
  • [32] Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects
    Johnson, Ben
    Lowe, Gillian C.
    Futterer, Jane
    Lordkipanidze, Marie
    MacDonald, David
    Simpson, Michael A.
    Sanchez-Guiu, Isabel
    Drake, Sian
    Bem, Danai
    Leo, Vincenzo
    Fletcher, Sarah J.
    Dawood, Ban
    Rivera, Jose
    Allsup, David
    Biss, Tina
    Bolton-Maggs, Paula H. B.
    Collins, Peter
    Curry, Nicola
    Grimley, Charlotte
    James, Beki
    Makris, Mike
    Motwani, Jayashree
    Pavord, Sue
    Talks, Katherine
    Thachil, Jecko
    Wilde, Jonathan
    Williams, Mike
    Harrison, Paul
    Gissen, Paul
    Mundell, Stuart
    Mumford, Andrew
    Daly, Martina E.
    Watson, Steve P.
    Morgan, Neil V.
    [J]. HAEMATOLOGICA, 2016, 101 (10) : 1170 - 1179
  • [33] Whole exome sequencing identifies genetic variants in Chinese Han pregnant women with venous thromboembolism
    Shen, Yupei
    Zhang, Yan
    Xiong, Ying
    Zhang, Zhiping
    Zhang, Baohua
    Li, Aihong
    Zhang, Zhaofeng
    Ding, Jing
    Du, Jing
    Che, Yan
    [J]. THROMBOSIS RESEARCH, 2022, 211 : 49 - 55
  • [34] Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families
    Pan, Jianyan
    Ma, Shanshan
    Teng, Yanling
    Liang, Deshin
    Li, Zhou
    Wu, Lingqian
    [J]. CLINICA CHIMICA ACTA, 2022, 532 : 53 - 60
  • [35] Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations
    Niina Sandholm
    Ronja Hotakainen
    Jani K. Haukka
    Fanny Jansson Sigfrids
    Emma H. Dahlström
    Anni A. Antikainen
    Erkka Valo
    Anna Syreeni
    Elina Kilpeläinen
    Anastasia Kytölä
    Aarno Palotie
    Valma Harjutsalo
    Carol Forsblom
    Per-Henrik Groop
    [J]. Genome Medicine, 14
  • [36] Exome sequencing identifies causal variants in genetic skeletal disorders
    Zheng, Z.
    Wu, C.
    Geng, J.
    Xu, Y.
    Zhang, X.
    Wang, J.
    Li, Y.
    Yang, H.
    Wang, Z.
    Fu, Q.
    [J]. CLINICAL BIOCHEMISTRY, 2014, 47 (09) : 784 - 785
  • [37] Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations
    Sandholm, Niina
    Hotakainen, Ronja
    Haukka, Jani K.
    Sigfrids, Fanny Jansson
    Dahlstrom, Emma H.
    Antikainen, Anni A.
    Valo, Erkka
    Syreeni, Anna
    Kilpelainen, Elina
    Kytola, Anastasia
    Palotie, Aarno
    Harjutsalo, Valma
    Forsblom, Carol
    Groop, Per-Henrik
    [J]. GENOME MEDICINE, 2022, 14 (01)
  • [38] Whole-Exome Sequencing in Multiplex Families Identifies Novel Rare Variants in Multiple Sclerosis
    Haines, Jonathan
    Beecham, Ashley
    McCauley, Jacob
    Hadjixenofontos, Athena
    Whitehead, Patrice
    Konidari, Ioanna
    Aviram, Anat
    Pasco, Yuslin
    Hauser, Stephen
    Oksenberg, Jorge
    Hedges, Dale
    Vance, Jeffery
    Pericak-Vance, Margaret
    [J]. NEUROLOGY, 2013, 80
  • [39] Whole Exome Sequencing in the Amish identifies candidate rare variants for AMD
    Butkiewicz, Mariusz
    Sardell, Rebecca J.
    Whitehead, Patrice
    Scott, William K.
    Stambolian, Dwight
    Pericak-Vance, Margaret A.
    Haines, Jonathan
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (12)
  • [40] WHOLE EXOME SEQUENCING IDENTIFIES GENETIC CAUSE OF HISTIOCYTOID CARDIOMYOPATHY
    Rea, Gillian
    Homfray, Tessa
    Till, Jan
    Roses-Noguer, Ferran
    Buchan, Rachel J.
    Wilkinson, Sam
    Walsh, Roddy
    McKee, Shane
    Stewart, Fiona J.
    Murday, Victoria
    Taylor, Robert W.
    Baksi, A. John
    Prasad, Sanjay K.
    Barton, Paul J. R.
    Ware, James S.
    Cook, Stuart A.
    [J]. HEART, 2016, 102 : A138 - A139
12345