Whole Exome Sequencing Study in Pediatric Postural Orthostatic Tachycardia Syndrome Unveils a Path Forward From Genes to Drugs

被引:0
|
作者
Qu, Huiqi
Glessner, Joseph
Chang, Xiao
Mentch, Frank
Liu, Yichuan
Bakay, Marina A.
Boris, Jeffrey
Hakonarson, Hakon
机构
关键词
Rhythms; Precision medicine; Genetics;
D O I
10.1161/circ.148.suppl_1.14779
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
A14779
引用
收藏
页数:2
相关论文
共 7 条
  • [1] The diagnostic yield and treatment implications of whole-exome sequencing in pediatric epilepsies from a tertiary care hospital - a retrospective observational study
    Saini, L.
    Manjunathan, S.
    Laxmi, V.
    Kumar, A.
    Rajial, T.
    Singh, K.
    EPILEPSIA, 2023, 64 : 545 - 545
  • [2] Investigation of Pathogenic Genes in Peri-Implantitis from Implant Clustering Failure Patients: A Whole-Exome Sequencing Pilot Study
    Lee, Soohyung
    Kim, Ji-Young
    Hwang, Jihye
    Kim, Sanguk
    Lee, Jae-Hoon
    Han, Dong-Hoo
    PLOS ONE, 2014, 9 (06):
  • [3] CLINICAL TUMOR WHOLE EXOME SEQUENCING FOR PEDIATRIC NEURO-ONCOLOGY PATIENTS - RESULTS FROM THE BAYLOR ADVANCING SEQUENCING IN CHILDHOOD CANCER CARE (BASIC3) CLINICAL SEQUENCING STUDY
    Lin, Frank
    Potter, Samara
    Ting, Michelle
    Chandramohan, Raghu
    Kakkar, Nipun
    Wang, Tao
    Raesz-Martinez, Robin
    Scollon, Sarah
    Bergstrom, Katie
    Lopez-Terrada, Dolores
    Adesina, Adekunle
    Mohila, Carrie
    Whitehead, William
    Ramamurthy, Uma
    Hilsenbeck, Susan
    Wheeler, David
    Berg, Stacey
    Chintagumpala, Murali
    Eng, Christine
    Gibbs, Richard
    Roy, Angshumoy
    Plon, Sharon
    Parsons, D. Williams
    NEURO-ONCOLOGY, 2018, 20 : 184 - 184
  • [4] Amino acid-level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noise
    Landstrom, Andrew P.
    Fernandez, Ernesto
    Rosenfeld, Jill A.
    Yang, Yaping
    Dailey-Schwartz, Andrew L.
    Miyake, Christina Y.
    Allen, Hugh D.
    Penny, Daniel J.
    Kim, Jeffrey J.
    HEART RHYTHM, 2018, 15 (07) : 1042 - 1050
  • [5] FOLLOW-UP OF 27 CANDIDATE GENES FROM A WHOLE-EXOME SEQUENCING STUDY IN LARGE FAMILIES WITH BIPOLAR DISORDER BY RESEQUENCING OF AN INDEPENDENT PATIENT-CONTROL COHORT
    Fischer, Sascha
    Hoffmann, Per
    Reinbold, Celine
    Burger, Bettina
    Herms, Stefan
    Streit, Fabian
    Rivas, Fabio
    Mayoral, Fermin
    Parra, Jose Guzman
    Arias, Barbara
    Schulze, Thomas
    Rietschel, Marcella
    Noethen, Markus
    Forstner, Andreas
    Cichon, Sven
    EUROPEAN NEUROPSYCHOPHARMACOLOGY, 2021, 51 : E62 - E63
  • [6] Evaluating cancer susceptibility mutations and incidental findings from whole exome sequencing of sequentially diagnosed pediatric solid and brain tumor patients: Early results of the BASIC3 study
    Plon, Sharon E.
    Scollon, Sarah
    Bergstrom, Katie
    Kerstein, Robin A.
    Chintagumpala, Murali
    Berg, Stacey L.
    Hilsenbeck, Susan G.
    Wang, Tao
    Rednam, Surya
    Wheeler, David
    McCullough, Laurence
    Street, Richard
    McGuire, Amy L.
    Jeffrey, Reid G.
    Muzny, Donna M.
    Eng, Christine M.
    Yang, Yaping
    Gibbs, Richard A.
    Parsons, Donald W.
    CANCER RESEARCH, 2014, 74 (23)
  • [7] INCREASED NUMBERS OF SINGLE NUCLEOTIDE VARIANTS IN GENES RELATED TO BILE ACID KINETICS ARE ASSOCIATED WITH DIARRHEA-PREDOMINANT IRRITABLE BOWEL SYNDROME: A WHOLE EXOME SEQUENCING STUDY OF 526 PATIENTS AND 2950 CONTROLS
    Dilmaghani, Saam
    Frank, Jacob A.
    Sicotte, Hugues
    Vierkant, Robert A.
    Lazaridis, Konstantinos N.
    Camilleri, Michael
    GASTROENTEROLOGY, 2023, 164 (06) : S135 - S136