Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the ki...
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene
About this item
Full title
Author / Creator
Bekheirnia, Mir Reza , Bekheirnia, Nasim , Bainbridge, Matthew N. , Gu, Shen , Coban Akdemir, Zeynep Hande , Gambin, Tomek , Janzen, Nicolette K. , Jhangiani, Shalini N. , Muzny, Donna M. , Michael, Mini , Brewer, Eileen D. , Elenberg, Ewa , Kale, Arundhati S. , Riley, Alyssa A. , Swartz, Sarah J. , Scott, Daryl A. , Yang, Yaping , Srivaths, Poyyapakkam R. , Wenderfer, Scott E. , Bodurtha, Joann , Applegate, Carolyn D. , Velinov, Milen , Myers, Angela , Borovik, Lior , Craigen, William J. , Hanchard, Neil A. , Rosenfeld, Jill A. , Lewis, Richard Alan , Gonzales, Edmond T. , Gibbs, Richard A. , Belmont, John W. , Roth, David R. , Eng, Christine , Braun, Michael C. , Lupski, James R. and Lamb, Dolores J.
Publisher
New York: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
To investigate the utility of whole-exome sequencing (WES) to define a molecular diagnosis for patients clinically diagnosed with congenital anomalies of kidney and urinary tract (CAKUT).
WES was performed in 62 families with CAKUT. WES data were analyzed for single-nucleotide variants (SNVs) in 35 known CAKUT genes, putatively deleterious seque...
Alternative Titles
Full title
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene
Authors, Artists and Contributors
Author / Creator
Bekheirnia, Nasim
Bainbridge, Matthew N.
Gu, Shen
Coban Akdemir, Zeynep Hande
Gambin, Tomek
Janzen, Nicolette K.
Jhangiani, Shalini N.
Muzny, Donna M.
Michael, Mini
Brewer, Eileen D.
Elenberg, Ewa
Kale, Arundhati S.
Riley, Alyssa A.
Swartz, Sarah J.
Scott, Daryl A.
Yang, Yaping
Srivaths, Poyyapakkam R.
Wenderfer, Scott E.
Bodurtha, Joann
Applegate, Carolyn D.
Velinov, Milen
Myers, Angela
Borovik, Lior
Craigen, William J.
Hanchard, Neil A.
Rosenfeld, Jill A.
Lewis, Richard Alan
Gonzales, Edmond T.
Gibbs, Richard A.
Belmont, John W.
Roth, David R.
Eng, Christine
Braun, Michael C.
Lupski, James R.
Lamb, Dolores J.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5362362
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5362362
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2016.131
