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Publications by Shirlee Shril

Mutations in KEOPS-complex Genes Cause Nephrotic Syndrome With Primary Microcephaly

Nature Genetics
Genetics
2017English

Author Correction: The Copy Number Variation Landscape of Congenital Anomalies of the Kidney and Urinary Tract

Nature Genetics
Genetics
2019English

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy

American Journal of Human Genetics
Genetics
2019English

Mutations in Six Nephrosis Genes Delineate a Pathogenic Pathway Amenable to Treatment

Nature Communications
AstronomyGeneticsMolecular BiologyBiochemistryChemistryPhysics
2018English

Whole-Exome Sequencing Identifies Causative Mutations in Families With Congenital Anomalies of the Kidney and Urinary Tract

Journal of the American Society of Nephrology : JASN
MedicineNephrology
2018English

Mutations in KIRREL1, a Slit Diaphragm Component, Cause Steroid-Resistant Nephrotic Syndrome

Kidney International
Nephrology
2019English

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