Unclassified variants in disease-causing genes: nonuniformity of genetic testing and counselling, a proposal for guidelines

被引：0
|
作者：
Geraldine R Vink
Christi J van Asperen
Peter Devilee
Martijn H Breuning
Egbert Bakker
机构：
[1] Leiden University Medical Center,Center for Human and Clinical Genetics, Clinical Molecular Genetics Laboratory
来源：
European Journal of Human Genetics | 2005年 / 13卷
关键词：
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：525 / 527
页数：2
相关论文
共 50 条
  • [31] Identification of disease-causing genetic variants in a representative cohort of Czech patients with early onset hypertrophic cardiomyopathy
    Norambuena, P. A.
    Krebsova, A.
    Piherova, L.
    Votypka, P.
    Nemcikova, M.
    Kubus, P.
    Stara, V.
    Macek, M., Sr.
    Puchmajerova, A.
    Macek, M., Jr.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 273 - 274
  • [32] A Network-Based Method for Predicting Disease-Causing Genes
    Karni, Shaul
    Soreq, Hermona
    Sharan, Roded
    JOURNAL OF COMPUTATIONAL BIOLOGY, 2009, 16 (02) : 181 - 189
  • [33] Assigning Distal Genomic Enhancers to Cardiac Disease-Causing Genes
    Anene-Nzelu, Chukwuemeka George
    Tan, Wilson Lek Wen
    Lee, Chang Jie Mick
    Wenhao, Zheng
    Perrin, Arnaud
    Dashi, Albert
    Tiang, Zenia
    Autio, Matias Ilmari
    Lim, Bram
    Wong, Eleanor
    Tan, Hui San
    Pan, Bangfen
    Morley, Michael P.
    Margulies, Kenneth B.
    Cappola, Thomas P.
    Foo, Roger S-Y.
    CIRCULATION, 2020, 142 (09) : 910 - 912
  • [34] Credibility Analysis of Putative Disease-Causing Genes Using Bioinformatics
    Abel, Olubunmi
    Powell, John F.
    Andersen, Peter M.
    Al-Chalabi, Ammar
    PLOS ONE, 2013, 8 (06):
  • [35] Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies
    Tatiana Orme
    Dena Hernandez
    Owen A. Ross
    Celia Kun-Rodrigues
    Lee Darwent
    Claire E. Shepherd
    Laura Parkkinen
    Olaf Ansorge
    Lorraine Clark
    Lawrence S. Honig
    Karen Marder
    Afina Lemstra
    Ekaterina Rogaeva
    Peter St. George-Hyslop
    Elisabet Londos
    Henrik Zetterberg
    Kevin Morgan
    Claire Troakes
    Safa Al-Sarraj
    Tammaryn Lashley
    Janice Holton
    Yaroslau Compta
    Vivianna Van Deerlin
    John Q. Trojanowski
    Geidy E. Serrano
    Thomas G. Beach
    Suzanne Lesage
    Douglas Galasko
    Eliezer Masliah
    Isabel Santana
    Pau Pastor
    Pentti J. Tienari
    Liisa Myllykangas
    Minna Oinas
    Tamas Revesz
    Andrew Lees
    Brad F. Boeve
    Ronald C. Petersen
    Tanis J. Ferman
    Valentina Escott-Price
    Neill Graff-Radford
    Nigel J. Cairns
    John C. Morris
    Stuart Pickering-Brown
    David Mann
    Glenda Halliday
    David J. Stone
    Dennis W. Dickson
    John Hardy
    Andrew Singleton
    Acta Neuropathologica Communications, 8
  • [36] Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies
    Orme, Tatiana
    Hernandez, Dena
    Ross, Owen A.
    Kun-Rodrigues, Celia
    Darwent, Lee
    Shepherd, Claire E.
    Parkkinen, Laura
    Ansorge, Olaf
    Clark, Lorraine
    Honig, Lawrence S.
    Marder, Karen
    Lemstra, Afina
    Rogaeva, Ekaterina
    St. George-Hyslop, Peter
    Londos, Elisabet
    Zetterberg, Henrik
    Morgan, Kevin
    Troakes, Claire
    Al-Sarraj, Safa
    Lashley, Tammaryn
    Holton, Janice
    Compta, Yaroslau
    Van Deerlin, Vivianna
    Trojanowski, John Q.
    Serrano, Geidy E.
    Beach, Thomas G.
    Lesage, Suzanne
    Galasko, Douglas
    Masliah, Eliezer
    Santana, Isabel
    Pastor, Pau
    Tienari, Pentti J.
    Myllykangas, Liisa
    Oinas, Minna
    Revesz, Tamas
    Lees, Andrew
    Boeve, Brad F.
    Petersen, Ronald C.
    Ferman, Tanis J.
    Escott-Price, Valentina
    Graff-Radford, Neill
    Cairns, Nigel J.
    Morris, John C.
    Pickering-Brown, Stuart
    Mann, David
    Halliday, Glenda
    Stone, David J.
    Dickson, Dennis W.
    Hardy, John
    Singleton, Andrew
    ACTA NEUROPATHOLOGICA COMMUNICATIONS, 2020, 8 (01)
  • [37] Network Analysis of Differential Expression for the Identification of Disease-Causing Genes
    Nitsch, Daniela
    Tranchevent, Leon-Charles
    Thienpont, Bernard
    Thorrez, Lieven
    Van Esch, Hilde
    Devriendt, Koenraad
    Moreau, Yves
    PLOS ONE, 2009, 4 (05):
  • [38] Detecting disease-causing genes by LASSO-Patternsearch algorithm
    Weiliang Shi
    Kristine E Lee
    Grace Wahba
    BMC Proceedings, 1 (Suppl 1)
  • [39] SVInterpreter: a web-based tool for structural variants inspection and identification of possible disease-causing candidate genes
    Fino, Joana
    Marques, Barbara
    Dong, Zirui
    David, Dezso
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 501 - 501
  • [40] Identification of disease-causing variants in children and adolescents with focal segmental glomerulosclerosis
    Draut, S.
    Braunisch, M. C.
    Riedhammer, K. M.
    Herr, P. M.
    Guenthner, R.
    Wagner, M.
    Alhaddad, B.
    Renders, L.
    Heemann, U.
    Schmaderer, C.
    Hoefele, J.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 216 - 217
12345