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E. Peters · SciRah

Researcher profile · Semantic Scholar

E. Peters

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E. Peters — researcher profile on SciRah

h-index: 6
Works: 11
Citations: 347

Most-cited papers

Earliest gestational age for fetal sexing in cell‐free maternal plasma
R. Rijnders, R. B. van der Luijt, E. Peters, J. K. Goeree +3 more
2003Prenatal Diagnosis113 citations
Semantic Scholar
NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.
R. Snoek, J. van Setten, B. Keating, A. Israni +21 more
2018Journal of the American Society of Nephrology96 citations Open access
Semantic Scholar
Genetics-first approach improves diagnostics of ESKD patients younger than 50 years.
R. Snoek, R. V. van Jaarsveld, Tri Q. Nguyen, E. Peters +10 more
2020Nephrology, Dialysis and Transplantation40 citations Open access
Semantic Scholar
A Novel Splicing Mutation in KCNQ2 in a Multigenerational Family with BFNC Followed for 25 Years
G. de Haan, D. Pinto, D. Carton, A. Bader +10 more
2006Epilepsia37 citations
Semantic Scholar
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
L. Claus, Chuan Chen, Jennifer L. Stallworth, Joshu Turner +43 more
2023Kidney International36 citations Open access
Semantic Scholar
FOXL2 and TERT promoter mutation detection in circulating tumor DNA of adult granulosa cell tumors as biomarker for disease monitoring.
J. Groeneweg, Joline Roze, E. Peters, F. Sereno +10 more
2021Gynecologic Oncology19 citations Open access
Semantic Scholar
KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome
Amber S. E. van Oirsouw, M. A. Hadders, M. Koetsier, E. Peters +27 more
2025Human Molecular Genetics3 citations Open access
Semantic Scholar
FC044: Heterozygous Variants in Kinase Domain of NEK8 cause an Autosomal-Dominant Ciliopathy
L. Claus, Jennifer L. Stallworth, R. V. van Jaarsveld, Joshu Turner +30 more
2022Nephrology, Dialysis and Transplantation2 citations Open access
Semantic Scholar
Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype
L. Claus, R. Snoek, Siebren Faber, Aurelius J C Roskothen-Shevchuk +31 more
2025Nephron1 citations Open access
Semantic Scholar
21%-51% of a Single-Center, 15-Year Cohort of All Patients with ESKD Prior to the Age of 50 Have Monogenic Kidney Disease
R. Snoek, R. V. van Jaarsveld, Tri Q. Nguyen, E. Peters +10 more
2020Journal of the American Society of Nephrology0 citations
Semantic Scholar
SP001TARGETED SEQUENCING OF 399 RENAL GENES RECLASSIFIES PRIMARY DISEASE DIAGNOSES IN YOUNG ESRD PATIENTS
A. V. van Eerde, A. van der Zwaag, M. D. de Borst, E. Peters +8 more
20150 citations
Semantic Scholar

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