Novel Non-Coding, Coding and Structural Variants in Hairy Cell Leukemia from Whole Genome Transcriptome Sequencing

被引：1

作者：

Blombery, Piers ^{[1
,2
,3
]}

Walter, Wencke ^{[4
]}

Hutter, Stephan ^{[4
]}

Baer, Constance ^{[4
]}

Sakuma, Maki ^{[4
]}

Mueller, Heiko ^{[4
]}

Wu, Simon ^{[3
]}

Caldwell, Imogen R. ^{[3
]}

Kern, Wolfgang ^{[4
]}

Meggendorfer, Manja ^{[4
]}

Haferlach, Claudia ^{[4
]}

Haferlach, Torsten ^{[4
]}

机构：

[1] Torsten Haferlach Leukaemiediagnost Stiftung, Munich, Germany

[2] Univ Melbourne, Melbourne, Vic, Australia

[3] Peter MacCallum Canc Ctr, Melbourne, Vic, Australia

[4] MLL Munich Leukemia Lab, Munich, Germany

来源：

BLOOD | 2022年 / 140卷

关键词：

D O I：

10.1182/blood-2022-163300

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：3546 / 3547

页数：2

共 50 条

[1] 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)
[2] 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
[3] 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
[4] Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases
Valero, Marta
Bauwens, Miriam
De Bruyne, Marieke
Van den Broeck, Filip
Dulst, Stephanie
Quinten, Quinten
Meunier, Audrey
de Ravel, Thomy
Ruys, Joke
Van Heetvelde, Mattias
Balikova, Irina
Vermeer, Sascha
De Zaeytijd, Julie
Leroy, Bart
De Baere, Elfride
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, 64 (08)
[5] 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
[6] Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss
Memoona Ramzan
Duygu Duman
LeShon Chere Peart Hendricks
Shengru Guo
Ahmet Mutlu
Mahmut Tayyar Kalcioglu
Serhat Seyhan
Claudia Carranza
Murtaza Bonyadi
Nejat Mahdieh
Muzeyyen Yildirim-Baylan
Erick Figueroa-Ildefonso
Ozgul Alper
Tahir Atik
Abdurrahman Ayral
Nazim Bozan
Burhan Balta
Christian Rivas
Gabrielle N. Manzoli
Fabiola Huesca-Hernandez
Raja A. H. Kuchay
Merve Durgut
Guney Bademci
Mustafa Tekin
Journal of Human Genetics, 2023, 68 : 657 - 669
[7] Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss
Ramzan, Memoona
Duman, Duygu
Hendricks, LeShon Chere Peart
Guo, Shengru
Mutlu, Ahmet
Kalcioglu, Mahmut Tayyar
Seyhan, Serhat
Carranza, Claudia
Bonyadi, Murtaza
Mahdieh, Nejat
Yildirim-Baylan, Muzeyyen
Figueroa-Ildefonso, Erick
Alper, Ozgul
Atik, Tahir
Ayral, Abdurrahman
Bozan, Nazim
Balta, Burhan
Rivas, Christian
Manzoli, Gabrielle N.
Huesca-Hernandez, Fabiola
Kuchay, Raja A. H.
Durgut, Merve
Bademci, Guney
Tekin, Mustafa
JOURNAL OF HUMAN GENETICS, 2023, 68 (10) : 657 - 669
[8] Deregulation of the non-coding genome in leukemia
Teppo, Susanna
Heinaniemi, Merja
Lohi, Olli
RNA BIOLOGY, 2017, 14 (07) : 827 - 830
[9] Whole-genome sequencing identified novel non-coding mutations causal of oncogene activation in T-cell acute lymphoblastic leukemia
Qian, Maoxiang
Hu, Shaoyan
Zhang, Hui
Guo, Yu
Yang, Jin
Zhao, Xujie
Wan, Lin
Lu, Jun
Pan, Jian
Chang, Meimei
Kham, Shirley K.
Cheng, Yong
Li, Chunliang
Yeoh, Allen E.
Skanderup, Anders
Yang, Jun J.
CANCER RESEARCH, 2017, 77
[10] Triaging risk variants in the non-coding genome
Koch, Linda
NATURE REVIEWS GENETICS, 2014, 15 (12) : 779 - 779

← 1 2 3 4 5 →