Cardiomyopathies (CMs): from clinical characterization to Whole Exome Sequencing (WES) analysis in Italian patients

被引：0
|
作者：
Alessandrini, Beatrice [1 ]
Lenarduzzi, Stefania [2 ]
Dal Ferro, Matteo [3 ]
Paldino, Alessia [1 ,3 ]
Sinagra, Gianfranco [1 ,3 ]
Gasparini, Paolo [1 ,2 ]
Girotto, Giorgia [1 ,2 ]
机构：
[1] Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy
[2] Inst Maternal & Child Hlth IRCCS Burlo Garofolo, Med Genet, Trieste, Italy
[3] Azienda Sanit Univ Giuliano Isontina ASUGI, Cardiothoracovasc Dept Trieste, Trieste, Italy
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31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：
EP06.008
引用
收藏
页码：138 / 138
页数：1
相关论文
共 50 条
  • [41] Matched Whole-Genome Sequencing (WGS) and Whole-Exome Sequencing (WES) of Tumor Tissue with Circulating Tumor DNA (ctDNA) Analysis: Complementary Modalities in Clinical Practice
    Imperial, Robin
    Nazer, Marjan
    Ahmed, Zaheer
    Kam, Audrey E.
    Pluard, Timothy J.
    Bahaj, Waled
    Levy, Mia
    Kuzel, Timothy M.
    Hayden, Dana M.
    Pappas, Sam G.
    Subramanian, Janakiraman
    Masood, Ashiq
    CANCERS, 2019, 11 (09)
  • [42] Whole exome sequencing of suspected mitochondrial patients in clinical practice
    Wortmann, Saskia B.
    Koolen, DavidA.
    Smeitink, Jan A.
    van den Heuvel, Lambert
    Rodenburg, Richard J.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2015, 38 (03) : 437 - 443
  • [43] Data Interoperability of Whole Exome Sequencing (WES) Based Mutational Burden Estimates from Different Laboratories
    Qiu, Ping
    Pang, Ling
    Arreaza, Gladys
    Maguire, Maureen
    Chang, Ken C. N.
    Marton, Matthew J.
    Levitan, Diane
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2016, 17 (05)
  • [44] Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis
    Nolan, Danielle
    Carlson, Martha
    JOURNAL OF CHILD NEUROLOGY, 2016, 31 (07) : 887 - 894
  • [45] Clinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients
    Elaraby, Nesma M.
    Ahmed, Hoda A.
    Dawoud, Heba
    Ashaat, Neveen A.
    Azmy, Ashraf
    Galal, Eman Reda
    Elhusseny, Yasmine
    Awady, Heba El
    Metwally, Ammal M.
    Ashaat, Engy A.
    MOLECULAR BIOLOGY REPORTS, 2024, 51 (01)
  • [46] WHOLE EXOME SEQUENCING (WES) OF DIPG PATIENTS FROM THE BIOMEDE TRIAL REVEALS NEW PROGNOSTIC SUBGROUPS WITH SPECIFIC ONCOGENIC PROGRAMMES
    Debily, Marie-Anne
    Kergrohen, Thomas
    Varlet, Pascale
    Le Teuff, Gwenael
    Nysom, Karsten
    Blomgren, Klas
    Leblond, Pierre
    Bertozzi, Anne-Isabelle
    De Carli, Emilie
    Chappe, Celine
    Ghermaoui, Samia
    Barret, Emilie
    Picot, Stephanie
    Tauziede-Espariat, Arnaud
    Puget, Stephanie
    Castel, David
    Vassal, Gilles
    Grill, Jacques
    NEURO-ONCOLOGY, 2019, 21 : 195 - 195
  • [47] Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing
    Godino, Lea
    Varesco, Liliana
    Bruno, William
    Bruzzone, Carla
    Battistuzzi, Linda
    Franiuk, Marzena
    Miccoli, Sara
    Bertonazzi, Benedetta
    Graziano, Claudio
    Seri, Marco
    Turchetti, Daniela
    JOURNAL OF GENETIC COUNSELING, 2021, 30 (03) : 665 - 675
  • [48] Unique Neurologic Disorders with Unique Genetic Alterations Revealed by Whole Exome Sequencing (WES)
    Clark, G. D.
    ANNALS OF NEUROLOGY, 2013, 74 : S165 - S165
  • [49] Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders
    Rosell, Allyn McConkie
    Pena, Loren D. M.
    Schoch, Kelly
    Spillmann, Rebecca
    Sullivan, Jennifer
    Hooper, Stephen R.
    Jiang, Yong-Hui
    Mathey-Andrews, Nicolas
    Goldstein, David B.
    Shashi, Vandana
    JOURNAL OF GENETIC COUNSELING, 2016, 25 (05) : 1019 - 1031
  • [50] Harmonizing tumor mutational burden analysis Insights from a multicenter study using in silico reference data sets in clinical whole-exome sequencing (WES)
    Yu, Lijia
    Zhang, Yuanfeng
    Wang, Duo
    Li, Lin
    Zhang, Rui
    Li, Jinming
    AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 2024, 162 (04) : 408 - 419
12345