APPLICATION OF GENOMICS AND NEXT-GENERATION SEQUENCING TO GENETIC DIAGNOSIS IN DEVELOPMENTAL EYE AND RETINAL DISEASES

被引:0
|
作者
Jamieson, Robyn [1 ,3 ]
Ma, Alan [1 ,3 ]
Prokudin, Ivan [1 ]
Sabri, Amin [1 ,3 ]
Nash, Ben [1 ,3 ]
Cheng, Anson [1 ,3 ]
Flaherty, Maree [1 ,3 ]
Grigg, John [1 ,3 ]
Ho, Gladys [2 ]
Bennetts, Bruce [2 ,3 ]
机构
[1] Childrens Hosp Westmead, Childrens Med Res Inst, Save Sight Inst, Sydney, NSW, Australia
[2] Childrens Hosp Westmead, Dept Mol Genet, Sydney, NSW, Australia
[3] Univ Sydney, Sydney Med Sch, Sydney, NSW 2006, Australia
关键词
D O I
暂无
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
2203
引用
收藏
页码:43 / 43
页数:1
相关论文
共 50 条
  • [1] Changes in clinical practice related to the arrival of next-generation sequencing in the genetic diagnosis of developmental diseases
    Demougeot, L.
    Houdayer, F.
    Pelissier, A.
    Mohrez, F.
    Thevenon, J.
    Duffourd, Y.
    Nambot, S.
    Gautier, E.
    Binquet, C.
    Rossi, M.
    Sanlaville, D.
    Bejean, S.
    Peyron, C.
    Thauvin-Robinet, C.
    Faivre, L.
    [J]. ARCHIVES DE PEDIATRIE, 2018, 25 (02): : 77 - 83
  • [2] Efficient application of next-generation sequencing for the diagnosis of neurodevelopmental diseases
    Madrigal, Irene
    Isabel Alvarez-Mora, Maria
    Sanchez, Aurora
    Rodriguez-Revenga, Laia
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 240 - 241
  • [3] Next-generation sequencing applied to rare diseases genomics
    Danielsson, Krissi
    Mun, Liew Jun
    Lordemann, Amanda
    Mao, Jimmy
    Lin, Cheng-Ho Jimmy
    [J]. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 2014, 14 (04) : 469 - 487
  • [4] Next-Generation Sequencing Applications for Inherited Retinal Diseases
    Dockery, Adrian
    Whelan, Laura
    Humphries, Pete
    Farrar, G. Jane
    [J]. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (11)
  • [5] Next-generation sequencing for preimplantation genetic diagnosis
    Simpson, Joe Leigh
    Rechitsky, Svetlana
    Kuliev, Anver
    [J]. FERTILITY AND STERILITY, 2013, 99 (05) : 1203 - 1204
  • [6] Next-generation sequencing for preimplantation genetic diagnosis
    Treff, Nathan R.
    Forman, Eric J.
    Scott, Richard T., Jr.
    [J]. FERTILITY AND STERILITY, 2013, 99 (06) : E17 - E18
  • [7] Application of next-generation sequencing technology to diagnosis of genetic iron disorders
    Mcdonald, Cameron
    Wallace, Daniel
    Crawford, Darrell H.
    Subramaniam, Nathan
    [J]. JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, 2012, 27 : 10 - 11
  • [8] Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes
    Madrigal, Irene
    Isabel Alvarez-Mora, Maria
    Karlberg, Olof
    Rodriguez-Revenga, Laia
    Elurbe, Dei M.
    Rabionet, Raquel
    Mur, Antonio
    Pie, Juan
    Ballesta, Francisca
    Sauer, Sascha
    Syvaenen, Ann-Christine
    Mila, Montserrat
    [J]. JOURNAL OF CLINICAL PATHOLOGY, 2014, 67 (12) : 1099 - 1103
  • [9] Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing
    Rinki Ratnapriya
    Anand Swaroop
    [J]. Genome Medicine, 5
  • [10] Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing
    Ratnapriya, Rinki
    Swaroop, Anand
    [J]. GENOME MEDICINE, 2013, 5