Identification of a Novel RPS7 Non-Coding Variant in a Rare Form of Diamond-Blackfan Anemia by Whole-Genome Sequencing

被引：0

作者：

Wen, T. ^{[1
]}

Bayrak-Toydemir, P. ^{[1
]}

Wen, T. ^{[1
]}

Meznarich, J. ^{[1
]}

Botto, L. ^{[1
]}

Baldwin, E. ^{[1
]}

Andrews, A. ^{[1
]}

Vagher, J. ^{[1
]}

Boyden, S. ^{[1
]}

Nicholas, T. ^{[1
]}

Chapin, A. ^{[2
]}

Fan, E. ^{[1
]}

Mao, R. ^{[1
]}

Bayrak-Toydemir, P. ^{[1
]}

机构：

[1] Univ Utah, Salt Lake City, UT USA

[2] ARUP Labs, Salt Lake City, UT USA

来源：

JOURNAL OF MOLECULAR DIAGNOSTICS | 2023年 / 25卷 / 11期

关键词：

D O I：

暂无

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

G056

引用

页码：S19 / S19

页数：1

共 42 条

[21] 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
[22] 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)
[23] 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
[24] 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
[25] Whole Genome Sequencing in Idiopathic and Familial Pulmonary Arterial Hypertension Reveals Causal Rare Coding and Non-coding Sequence Variation
Graf, Stefan
Bleda, Marta
Haddinapola, Charaka
Haimel, Matthias
Bogaard, Harm J.
Coglan, Gerry
Corris, Paul A.
Gibbs, J. S.
Humbert, Marc
Kiely, David G.
Laurie, Allan
Machado, Rajiv D.
Peacock, Andrew J.
Pepke-Zaba, Joanna
Toshner, Mark
Trembath, Richard C.
Noordegraaf, Anton Vonk
Wharton, John
Wilkins, Martin
Wort, Stephen J.
Morrell, Nicholas W.
CIRCULATION, 2016, 134
[26] 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
[27] GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data
Giacopuzzi, Edoardo
Popitsch, Niko
Taylor, Jenny C.
NUCLEIC ACIDS RESEARCH, 2022, 50 (05) : 2522 - 2535
[28] 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)
[29] Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis
Herdewyn, Sarah
Zhao, Hui
Moisse, Matthieu
Race, Valerie
Matthijs, Gert
Reumers, Joke
Kusters, Benno
Schelhaas, Helenius J.
van den Berg, Leonard H.
Goris, An
Robberecht, Wim
Lambrechts, Diether
Van Damme, Philip
HUMAN MOLECULAR GENETICS, 2012, 21 (11) : 2412 - 2419
[30] Large Deletions and Novel Mutations in Genes Coding for Ribosomal Proteins (RPL11, RPL35A, RPS19) in the Czech National Registry of Diamond-Blackfan Anemia (DBA)
Volejnikova, Jana
Vojta, Petr
Maceckova, Zuzana
Koralkova, Pavla
Urbankova, Helena
Horvathova, Monika
Ludikova, Barbora
Sukova, Martina
Timr, Pavel
Hajduch, Marian
Pospisilova, Dagmar
BLOOD, 2017, 130

← 1 2 3 4 5 →