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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.The Journal of Clinical Investigation|September 5, 2018
Mutations in multiple components of the nuclear pore complex cause nephrotic syndromeDaniela A Braun, Svjetlana Lovric, David Schapiro, 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.The Journal of Clinical Investigation|February 7, 2017
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiencySvjetlana Lovric, Sara Goncalves, Heon Yung Gee, et al.Nature Communications|April 29, 2023
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndromeAlexandra Barry, Michelle T McNulty, Xiaoyuan Jia, et al.Nature Communications|May 19, 2018
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatmentShazia Ashraf, Hiroki Kudo, Jia Rao, 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|April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.NPJ Genomic Medicine|March 1, 2024
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomaliesJil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, et al.Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.Pageof 10