Unraveling the genetic thread of rare disorders by exome sequencing

被引：0
|
作者：
Gerasimou, Petroula [1 ]
Miltiadous, Andri [1 ]
Kyprianou, Ioannis [1 ]
Chi, Jianxiang [1 ]
Anastasiadou, Violeta [2 ]
Tanteles, George [3 ]
Costeas, Paul [1 ]
机构：
[1] Karaiskakio Fdn, Nicosia, Cyprus
[2] Archbishop Makarios III Med Ctr, Dept Clin Genet, Nicosia, Cyprus
[3] Cyprus Inst Neurol & Genet, Dept Clin Genet, Nicosia, Cyprus
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2022年 / 30卷 / SUPPL 1期
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：
P15.050.B
引用
收藏
页码：468 / 469
页数：2
相关论文
共 50 条
  • [21] Exome sequencing for neurological disorders
    Vance, J.
    Tekin, M.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2017, 381 : 21 - 21
  • [22] Whole-Exome Sequencing: Discovering Genetic Causes of Orthopaedic Disorders
    Paria, Nandina
    Copley, Lawson A.
    Herring, John A.
    Kim, Harry K. W.
    Richards, Benjamin S.
    Sucato, Daniel J.
    Wise, Carol A.
    Rios, Jonathan J.
    JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME, 2013, 95A (23): : 2165 - 2165
  • [23] WHOLE-EXOME SEQUENCING EFFECTIVE AT DIAGNOSING ELUSIVE GENETIC DISORDERS
    Levenson, Deborah
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (02) : VII - VIII
  • [24] Targeted Exome Sequencing for Genetic Diagnosis of Patients with Disorders of Sex Development
    Kim, Ja Hye
    Kang, Eungu
    Kim, Gu-Hwan
    Jang, Ja-Hyun
    Cho, Eun-Hae
    Lee, Beom Hee
    Yoo, Han-Wook
    Choi, Jin-Ho
    HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 46 - 46
  • [25] Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity
    DaRe, Jeana T.
    Vasta, Valeria
    Penn, John
    Tran, Nguyen-Thao B.
    Hahn, Si Houn
    BMC MEDICAL GENETICS, 2013, 14
  • [26] Using Next-Generation Sequencing Based Exome Analyses for identifying Novel Genetic Defects in Rare Immunodeficiency Disorders
    Husami, A.
    Kissell, D.
    Marsh, R.
    Zhang, K.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2012, 14 (06): : 640 - 641
  • [27] Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders
    Kim, Min-Jee
    Yum, Mi-Sun
    Seo, Go Hun
    Lee, Yena
    Jang, Han Na
    Ko, Tae-Sung
    Lee, Beom Hee
    JOURNAL OF CLINICAL MEDICINE, 2020, 9 (11) : 1 - 14
  • [28] Next-generation sequencing for rare genetic disorders
    Tekin, Mustafa
    CURRENT OPINION IN BIOTECHNOLOGY, 2011, 22 : S19 - S19
  • [29] Clinical or whole exome sequencing for mutation analysis in families with rare genetic syndromes?
    Paszekova, Helena
    Hruskova, Lucie
    Pis, Tomas
    Vlckova, Zdenka
    Michalovska, Renata
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 221 - 221
  • [30] ESTIMATING THE VALUE OF WHOLE EXOME SEQUENCING FOR PARENTS OF CHILDREN WITH RARE GENETIC DISEASES
    Marshall, D. A.
    MacDonald, K., V
    Lopatina, E.
    Mackenzie, A.
    Hartley, T.
    Boycott, K.
    VALUE IN HEALTH, 2015, 18 (03) : A286 - A286
12345