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Journal of the American Society of Nephrology : JASN|January 19, 2019
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant RecipientsNina Mann, Daniela A Braun, Kassaundra Amann, et al.
Kidney International|September 13, 2017
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosisAnkana Daga, Amar J Majmundar, Daniela A Braun, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUTSteve Seltzsam, Chunyan Wang, Bixia Zheng, et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|December 6, 2019
Revision and Update of the Consensus Definitions of Invasive Fungal Disease From the European Organization for Research and Treatment of Cancer and the Mycoses Study Group Education and Research ConsortiumJ Peter Donnelly, Sharon C Chen, Carol A Kauffman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2025
Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT familiesLea Maria Merz, Caroline M Kolvenbach, Chunyan Wang, et al.
Clinical Journal of the American Society of Nephrology : CJASN|November 12, 2017
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic SyndromeJillian K Warejko, Weizhen Tan, Ankana Daga, et al.
Journal of the American Society of Nephrology : JASN|August 26, 2018
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary TractAmelie T van der Ven, Dervla M Connaughton, Hadas Ityel, et al.
American Journal of Human Genetics|September 6, 2020
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract MalformationsDervla M Connaughton, Rufeng Dai, Danielle J Owen, et al.
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