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List of works by Shirlee Shril

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

scientific article published on 01 April 2019

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

scientific article published in November 2017

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

scientific article published in December 2017

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

scientific article published on 14 August 2017

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

scientific journal article

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

scientific article

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

scientific article published on 21 December 2018

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

scientific article

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