Publications by authors named "Edith D J Peters"

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Biallelic TMEM72 variants in patients with a nephronophthisis-like phenotype.
Laura R Claus, Rozemarijn Snoek, Siebren Faber, Aurelius J C Roskothen-Shevchuk, Elena Sendino Garví, Edith D J Peters

Nephron· November 2025

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KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.
Amber S E van Oirsouw, Michael A Hadders, Martijn Koetsier, Edith D J Peters, Nurit Assia Batzir

Hum Mol Genet· August 2025

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Genetics-first approach improves diagnostics of ESKD patients <50 years old.
Rozemarijn Snoek, Richard H van Jaarsveld, Tri Q Nguyen, Edith D J Peters, Martin G Elferink

Nephrol Dial Transplant· January 2022

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FOXL2 and TERT promoter mutation detection in circulating tumor DNA of adult granulosa cell tumors as biomarker for disease monitoring.
Jolijn W Groeneweg, Joline F Roze, Edith D J Peters, Ferdinando Sereno, Anna G J Brink

Gynecol Oncol· August 2021

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(Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.
Rozemarijn Snoek, Jessica van Setten, Brendan J Keating, Ajay K Israni, Pamala A Jacobson, Edith D J Peters

J Am Soc Nephrol· June 2018

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