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Paper Details

Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.
J Am Soc Nephrol
3
2023
COU, Congenital Obstructive Uropathy, Congenital obstructive uropathy, GDs, MYH11, SNVs, Single Nucleotide, TNXB, congenital megaureter, developmental defect, developmental defects of the urinary tract, dosage-sensitive gene, genomic disorders, human, hydronephrosis, mutant genes, single nucleotide variants, ureteropelvic junction obstruction, ureterovesical junction obstruction, vesicoureteral
Author NameAffiliation
Maddalena MarasaColumbia University
Jordan G NestorColumbia University
Thomas HaysColumbia University
David J CohenColumbia University
Krzysztof KirylukColumbia University
Krzysztof KirylukColumbia University
Shrikant ManeYale Center for Mendelian Genomics (YCMG)
Richard P LiftonYale Center for Mendelian Genomics (YCMG)
Richard P LiftonYale Center for Mendelian Genomics (YCMG)
Ali G GharaviColumbia University
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