Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases

被引：0

作者：

Valero, Marta ^{[1
]}

Bauwens, Miriam ^{[1
]}

De Bruyne, Marieke ^{[1
]}

Van den Broeck, Filip ^{[2
,3
]}

Dulst, Stephanie ^{[1
]}

Quinten, Quinten ^{[1
]}

Meunier, Audrey ^{[4
]}

de Ravel, Thomy ^{[5
]}

Ruys, Joke ^{[6
]}

Van Heetvelde, Mattias ^{[1
]}

Balikova, Irina ^{[7
]}

Vermeer, Sascha ^{[7
]}

De Zaeytijd, Julie ^{[2
,3
]}

Leroy, Bart ^{[2
,3
,8
,9
]}

De Baere, Elfride ^{[1
]}

机构：

[1] Ghent Univ Hosp, Dept Biomol Med, Ctr Med Genet, Ghent, Belgium

[2] Ghent Univ Hosp, Dept Ophthalmol, Ghent, Belgium

[3] Ghent Univ Hosp, Dept Head & Skin, Ghent, Belgium

[4] ULB, Dept Ophthalmol, Univ Hosp St Pierre, Brussels, Belgium

[5] Univ Hosp Brussels, Ctr Med Genet, Brussels, Belgium

[6] ZNA Middelheim, Dept Ophthalmol, Antwerp, Belgium

[7] Univ Hosp Leuven, Dept Ophthalmol, Leuven, Belgium

[8] Childrens Hosp Philadelphia, Div Ophthalmol, Philadelphia, PA USA

[9] Childrens Hosp Philadelphia, Ctr Cellular & Mol Therapeut, Philadelphia, PA USA

来源：

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2023年 / 64卷 / 08期

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：

引用

页数：4

共 50 条

[1] Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases
Valero, Marta del Pozo
Bauwens, Miriam
De Bruyne, Marieke
Van den Broeck, Filip
Dulst, Stephanie
Mahieu, Quinten
Meunier, Audrey
de Ravel, Thomy
Ruys, Joke
Van Heetvelde, Mattias
Rey, Alfredo Duenas
Balikova, Irina
Vermeer, Sascha
De Zaeytijd, Julie
Leroy, Bart
De Baere, Elfride
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 41 - 41
[2] The non-coding morbid genome in inherited retinal diseases
De Baere, E.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 762 - 762
[3] Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes
Hayman, Tamar
Millo, Talya
Hendler, Karen
Chowers, Itay
Gross, Menachem
Banin, Eyal
Sharon, Dror
JOURNAL OF MEDICAL GENETICS, 2024, 61 (03) : 224 - 231
[4] Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies
Varela, Malena Daich
Bellingham, James
Motta, Fabiana
Jurkute, Neringa
Ellingford, Jamie M.
Quinodoz, Mathieu
Oprych, Kathryn
Niblock, Michael
Janeschitz-Kriegl, Lucas
Kaminska, Karolina
Cancellieri, Francesca
Scholl, Hendrik P. N.
Lenassi, Eva
Schiff, Elena
Knight, Hannah
Black, Graeme
Rivolta, Carlo
Cheetham, Michael E.
Michaelides, Michel
Mahroo, Omar A.
Moore, Anthony T.
Webster, Andrew R.
Arno, Gavin
HUMAN MOLECULAR GENETICS, 2023, 32 (04) : 595 - 607
[5] Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Alistair T. Pagnamenta
Carme Camps
Edoardo Giacopuzzi
John M. Taylor
Mona Hashim
Eduardo Calpena
Pamela J. Kaisaki
Akiko Hashimoto
Jing Yu
Edward Sanders
Ron Schwessinger
Jim R. Hughes
Gerton Lunter
Helene Dreau
Matteo Ferla
Lukas Lange
Yesim Kesim
Vassilis Ragoussis
Dimitrios V. Vavoulis
Holger Allroggen
Olaf Ansorge
Christian Babbs
Siddharth Banka
Benito Baños-Piñero
David Beeson
Tal Ben-Ami
David L. Bennett
Celeste Bento
Edward Blair
Charlotte Brasch-Andersen
Katherine R. Bull
Holger Cario
Deirdre Cilliers
Valerio Conti
E. Graham Davies
Fatima Dhalla
Beatriz Diez Dacal
Yin Dong
James E. Dunford
Renzo Guerrini
Adrian L. Harris
Jane Hartley
Georg Hollander
Kassim Javaid
Maureen Kane
Deirdre Kelly
Dominic Kelly
Samantha J. L. Knight
Alexandra Y. Kreins
Erika M. Kvikstad
Genome Medicine, 15
[6] Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Pagnamenta, Alistair T.
Camps, Carme
Giacopuzzi, Edoardo
Taylor, John M.
Hashim, Mona
Calpena, Eduardo
Kaisaki, Pamela J.
Hashimoto, Akiko
Yu, Jing
Sanders, Edward
Schwessinger, Ron
Hughes, Jim R.
Lunter, Gerton
Dreau, Helene
Ferla, Matteo
Lange, Lukas
Kesim, Yesim
Ragoussis, Vassilis
Vavoulis, Dimitrios V.
Allroggen, Holger
Ansorge, Olaf
Babbs, Christian
Banka, Siddharth
Banos-Pinero, Benito
Beeson, David
Ben-Ami, Tal
Bennett, David L.
Bento, Celeste
Blair, Edward
Brasch-Andersen, Charlotte
Bull, Katherine R.
Cario, Holger
Cilliers, Deirdre
Conti, Valerio
Davies, E. Graham
Dhalla, Fatima
Dacal, Beatriz Diez
Dong, Yin
Dunford, James E.
Guerrini, Renzo
Harris, Adrian L.
Hartley, Jane
Hollander, Georg
Javaid, Kassim
Kane, Maureen
Kelly, Deirdre
Kelly, Dominic
Knight, Samantha J. L.
Kreins, Alexandra Y.
Kvikstad, Erika M.
GENOME MEDICINE, 2023, 15 (01)
[7] Novel Non-Coding, Coding and Structural Variants in Hairy Cell Leukemia from Whole Genome Transcriptome Sequencing
Blombery, Piers
Walter, Wencke
Hutter, Stephan
Baer, Constance
Sakuma, Maki
Mueller, Heiko
Wu, Simon
Caldwell, Imogen R.
Kern, Wolfgang
Meggendorfer, Manja
Haferlach, Claudia
Haferlach, Torsten
BLOOD, 2022, 140 : 3546 - 3547
[8] Scalable approaches for functional analyses of whole-genome sequencing non-coding variants
Kuksa, Pavel P.
Greenfest-Allen, Emily
Cifello, Jeffrey
Ionita, Matei
Wang, Hui
Issen, Heather
Cheng, Po-Liang
Lee, Wan-Ping
Wang, Li-San
Leung, Yuk Yee
HUMAN MOLECULAR GENETICS, 2022, 31 (R1) : R62 - R72
[9] Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants
Liu, Xubing
Hu, Fangyuan
Zhang, Daowei
Li, Zhe
He, Jianquan
Zhang, Shenghai
Wang, Zhenguo
Zhao, Yingke
Wu, Jiawen
Liu, Chen
Li, Chenchen
Li, Xin
Wu, Jihong
NPJ GENOMIC MEDICINE, 2024, 9 (01)
[10] Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants
Xubing Liu
Fangyuan Hu
Daowei Zhang
Zhe Li
Jianquan He
Shenghai Zhang
Zhenguo Wang
Yingke Zhao
Jiawen Wu
Chen Liu
Chenchen Li
Xin Li
Jihong Wu
npj Genomic Medicine, 9

← 1 2 3 4 5 →