WHOLE EXOME SEQUENCING IN INHERITED NEUROPATHIES FROM SOUTH INDIA

被引:0
|
作者
Perrain, Valentine [1 ]
Record, Christopher [1 ]
Wilson, Lindsay [1 ]
Macken, William [1 ]
Vandrovcova, Jana [1 ]
Tallapaka, Karthik [2 ]
Dalal, Ashwin [2 ]
Govindaraj, P. [2 ]
Jabeen, Shaik [3 ]
Yareeda, Sireesha [3 ]
Mahesh, Bandari [3 ]
Naveena, M.
Thangaraj, K. [2 ]
Reilly, Mary [1 ]
机构
[1] UCL, Queen Sq Ctr Neuromuscular Dis, London, England
[2] CCMB, Hyderabad, India
[3] NIMS, Hyderabad, India
关键词
Hereditary neuropathy; next-generation sequencing; CMT;
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
P 093
引用
收藏
页码:S40 / S41
页数:2
相关论文
共 50 条
  • [41] Polygenic risk emerges from exome sequencing of inherited thrombocytopenia
    Isidori, Federica
    Melazzini, Federica
    Erini, Giulia
    Bozzi, Valeria
    Giangregorio, Tania
    Mattiaccio, Alessandro
    Sidore, Carlo
    Seri, Marco
    Pecci, Alessandro
    Marconi, Caterina
    Pippucci, Tommaso
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1430 - 1430
  • [42] Hemochromatosis in India: First Report of Whole Exome Sequencing With Review of the Literature
    Koshy, Abraham
    Mukkada, Roy J.
    Chettupuzha, Antony P.
    Francis, Jose, V
    Kandathil, Julio C.
    Mahadevan, Pushpa
    JOURNAL OF CLINICAL AND EXPERIMENTAL HEPATOLOGY, 2020, 10 (02) : 163 - 169
  • [43] Whole-Exome Sequencing Improves Understanding of Inherited Retinal Dystrophies in Korean Patients
    Park, Youngchan
    Kim, Youngjin
    Koh, Insong
    Lee, Jong-Young
    CURRENT ISSUES IN MOLECULAR BIOLOGY, 2024, 46 (10) : 11021 - 11030
  • [44] Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders
    Zhu Xintong
    Zhang Kexin
    Wang Junwen
    Wang Ziyi
    Luo Na
    Guo Hong
    BMC Medical Genomics, 16
  • [45] When Whole Exome Sequencing fails: Lessons learned from Whole Genome Sequencing
    Eliyahu, A.
    Marek-Yagel, D.
    Pode-Shakked, B.
    Veber, A.
    Philosoph, A.
    Shalva, N.
    Ortal, B.
    Bar-Joseph, I.
    Nayshool, O.
    Ben-Zeev, B.
    Heimer, G.
    Staretz-Chacham, O.
    Oz-Levi, D.
    Pode-Shakked, N.
    Anikster, Y.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 605 - 605
  • [46] PROFILING THE RARE VARIANT GENETIC RISK FOR DEMENTIA WITH WHOLE EXOME SEQUENCING: A STUDY FROM INDIA
    Patra, Chinu
    Ganesh, Suhas
    Mahadevan, Jayant
    Gujarati, Karan
    Awasthy, Disha
    George, Sobha
    Ganapathy, Aparna
    Phalke, Sameer
    Bettadapura, Radhakrishna
    Viswanath, Biju
    Varghese, Mathew
    Jain, Sanjeev
    Prasad, Pannaga
    Purushottam, Meera
    EUROPEAN NEUROPSYCHOPHARMACOLOGY, 2024, 87 : 126 - 126
  • [47] Whole exome sequencing in the rat
    Foley, Julie F.
    Phadke, Dhiral P.
    Hardy, Owen
    Hardy, Sara
    Miller, Victor
    Madan, Anup
    Howard, Kellie
    Kruse, Kimberly
    Lord, Cara
    Ramaiahgari, Sreenivasa
    Solomon, Gregory G.
    Shah, Ruchir R.
    Pandiri, Arun R.
    Herbert, Ronald A.
    Sills, Robert C.
    Merrick, B. Alex
    BMC GENOMICS, 2018, 19
  • [48] Whole exome sequencing for dyslexia
    Marianski, Krzysztof
    Talcott, Joel B.
    Stein, John
    Monaco, Anthony P.
    Paracchini, Silvia
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 480 - 480
  • [49] Whole exome sequencing in the rat
    Julie F. Foley
    Dhiral P. Phadke
    Owen Hardy
    Sara Hardy
    Victor Miller
    Anup Madan
    Kellie Howard
    Kimberly Kruse
    Cara Lord
    Sreenivasa Ramaiahgari
    Gregory G. Solomon
    Ruchir R. Shah
    Arun R. Pandiri
    Ronald A. Herbert
    Robert C. Sills
    B. Alex Merrick
    BMC Genomics, 19
  • [50] Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study
    Sinha, Rajiv
    Pradhan, Subal
    Banerjee, Sushmita
    Jahan, Afsana
    Akhtar, Shakil
    Pahari, Amitava
    Raut, Sumantra
    Parakh, Prince
    Basu, Surupa
    Srivastava, Priyanka
    Nayak, Snehamayee
    Thenral, S. G.
    Ramprasad, V
    Ashton, Emma
    Bockenhauer, Detlef
    Mandal, Kausik
    PEDIATRIC NEPHROLOGY, 2022, 37 (08) : 1811 - 1836