Diagnostic Utility of Exome Sequencing for Kidney Disease
Diagnostic Utility of Exome Sequencing for Kidney Disease
About this item
Full title
Author / Creator
Groopman, Emily E , Marasa, Maddalena , Cameron-Christie, Sophia , Petrovski, Slavé , Aggarwal, Vimla S , Milo-Rasouly, Hila , Li, Yifu , Zhang, Junying , Nestor, Jordan , Krithivasan, Priya , Lam, Wan Yee , Mitrotti, Adele , Piva, Stacy , Kil, Byum H , Chatterjee, Debanjana , Reingold, Rachel , Bradbury, Drew , DiVecchia, Michael , Snyder, Holly , Mu, Xueru , Mehl, Karla , Balderes, Olivia , Fasel, David A , Weng, Chunhua , Radhakrishnan, Jai , Canetta, Pietro , Appel, Gerald B , Bomback, Andrew S , Ahn, Wooin , Uy, Natalie S , Alam, Shumyle , Cohen, David J , Crew, Russell J , Dube, Geoffrey K , Rao, Maya K , Kamalakaran, Sitharthan , Copeland, Brett , Ren, Zhong , Bridgers, Joshua , Malone, Colin D , Mebane, Caroline M , Dagaonkar, Neha , Fellström, Bengt C , Haefliger, Carolina , Mohan, Sumit , Sanna-Cherchi, Simone , Kiryluk, Krzysztof , Fleckner, Jan , March, Ruth , Platt, Adam , Goldstein, David B and Gharavi, Ali G
Publisher
United States: Massachusetts Medical Society
Journal title
Language
English
Formats
Publication information
Publisher
United States: Massachusetts Medical Society
Subjects
More information
Scope and Contents
Contents
The utility of exome sequencing for most constitutional disorders in adults is unclear. In this study, exome sequencing in 3315 patients with chronic kidney disease yielded a genetic diagnosis in 307 cases (9.3%), with clinically important management implications for 89% of those reviewed.
Alternative Titles
Full title
Diagnostic Utility of Exome Sequencing for Kidney Disease
Authors, Artists and Contributors
Author / Creator
Marasa, Maddalena
Cameron-Christie, Sophia
Petrovski, Slavé
Aggarwal, Vimla S
Milo-Rasouly, Hila
Li, Yifu
Zhang, Junying
Nestor, Jordan
Krithivasan, Priya
Lam, Wan Yee
Mitrotti, Adele
Piva, Stacy
Kil, Byum H
Chatterjee, Debanjana
Reingold, Rachel
Bradbury, Drew
DiVecchia, Michael
Snyder, Holly
Mu, Xueru
Mehl, Karla
Balderes, Olivia
Fasel, David A
Weng, Chunhua
Radhakrishnan, Jai
Canetta, Pietro
Appel, Gerald B
Bomback, Andrew S
Ahn, Wooin
Uy, Natalie S
Alam, Shumyle
Cohen, David J
Crew, Russell J
Dube, Geoffrey K
Rao, Maya K
Kamalakaran, Sitharthan
Copeland, Brett
Ren, Zhong
Bridgers, Joshua
Malone, Colin D
Mebane, Caroline M
Dagaonkar, Neha
Fellström, Bengt C
Haefliger, Carolina
Mohan, Sumit
Sanna-Cherchi, Simone
Kiryluk, Krzysztof
Fleckner, Jan
March, Ruth
Platt, Adam
Goldstein, David B
Gharavi, Ali G
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_swepub_primary_oai_DiVA_org_uu_375897
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_DiVA_org_uu_375897
Other Identifiers
ISSN
0028-4793,1533-4406
E-ISSN
1533-4406
DOI
10.1056/NEJMoa1806891
