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Ria Schönauer · SciRah

Researcher profile · Semantic Scholar

Ria Schönauer

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Ria Schönauer — researcher profile on SciRah

h-index: 11
Works: 44
Citations: 441

Most-cited papers

Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease.
Isabel Ottlewski, Johannes Münch, Timo Wagner, Ria Schönauer +8 more
2019Kidney International82 citations Open access
Semantic Scholar
Adrenomedullin – new perspectives of a potent peptide hormone
Ria Schönauer, Sylvia Els-Heindl, A. Beck-Sickinger
2017Journal of Peptide Science68 citations
Semantic Scholar
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes
Ria Schönauer, Sebastian Baatz, Melanie Nemitz-Kliemchen, V. Frank +7 more
2020Genetics in Medicine44 citations Open access
Semantic Scholar
Development of Potent and Metabolically Stable APJ Ligands with High Therapeutic Potential
Cathleen Juhl, Sylvia Els-Heindl, Ria Schönauer, G. Redlich +6 more
2016ChemMedChem31 citations
Semantic Scholar
Novel Mutations in the Asparagine Synthetase Gene (ASNS) Associated With Microcephaly
D. Schleinitz, Anna Seidel, R. Stassart, J. Klammt +10 more
2018Frontiers in Genetics25 citations Open access
Semantic Scholar
Adrenomedullin 2.0: Adjusting Key Levers for Metabolic Stability.
Ria Schönauer, Sylvia Els-Heindl, J. Fischer, J. Köbberling +2 more
2016Journal of Medicinal Chemistry25 citations
Semantic Scholar
Systematic assessment of monogenic etiology in adult‐onset kidney stone formers undergoing urological intervention–evidence for genetic pretest probability
Ria Schönauer, Lotte Scherer, Melanie Nemitz-Kliemchen, T. Hagemann +7 more
2022American Journal of Medical Genetics. Part C, Seminars in Medical Genetics24 citations Open access
Semantic Scholar
Fluorescently labeled adrenomedullin allows real‐time monitoring of adrenomedullin receptor trafficking in living cells
Ria Schönauer, A. Kaiser, C. Holze, Stefanie Babilon +3 more
2015Journal of Peptide Science23 citations
Semantic Scholar
Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany
J. Halbritter, Anna Seidel, Luise Müller, Ria Schönauer +1 more
2018Frontiers in Pediatrics22 citations Open access
Semantic Scholar
Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting
Ria Schönauer, Friederike Petzold, Wilhelmina Lucinescu, Anna Seidel +6 more
2019Urolithiasis21 citations Open access
Semantic Scholar
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract
Johannes Münch, Marie Engesser, Ria Schönauer, J. Hamm +33 more
2022Kidney International17 citations Open access
Semantic Scholar
Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly
Sebastian Sewerin, J. Piontek, Ria Schönauer, S. Grunewald +5 more
2021Genes and Diseases16 citations Open access
Semantic Scholar
KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease
F. Boulogne, L. Claus, H. Wiersma, R. Oelen +17 more
2021European Journal of Human Genetics14 citations Open access
Semantic Scholar
Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis
Dana Sierks, Ria Schönauer, Anja Friedrich, Elena Hantmann +7 more
2022JHEP Reports13 citations Open access
Semantic Scholar
Adrenomedullin disulfide bond mimetics uncover structural requirements for AM1 receptor activation
J. Fischer, Ria Schönauer, Sylvia Els-Heindl, D. Bierer +3 more
2019Journal of Peptide Science13 citations
Semantic Scholar
Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment
Ria Schönauer, Wen-Jun Jin, Anastasia Ertel, Melanie Nemitz-Kliemchen +13 more
2020Kidney International10 citations Open access
Semantic Scholar
Sex, genotype, and liver volume progression as risk of hospitalization determinants in autosomal dominant polycystic liver disease.
Ria Schönauer, Dana Sierks, Melissa M. Boerrigter, Tabinda Jawaid +28 more
2023Gastroenterology9 citations Open access
Semantic Scholar
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Ria Schönauer, Wen-Jun Jin, Christin Findeisen, I. Valenzuela +36 more
2023American Journal of Human Genetics9 citations Open access
Semantic Scholar
Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics
Jonathan de Fallois, Ria Schönauer, Johannes Münch, M. Nagel +2 more
2021Frontiers in Genetics9 citations Open access
Semantic Scholar
The genetics of cystinuria - an update and critical reevaluation.
Clàudia Abad Baucells, Ria Schönauer, J. Halbritter
2023Current opinion in nephrology and hypertension8 citations
Semantic Scholar
Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia
Friederike Petzold, Wen-Jun Jin, Elena Hantmann, Katharina Korbach +2 more
2022Clinical Kidney Journal8 citations Open access
Semantic Scholar
Pathogenic PHIP Variants are Variably Associated With CAKUT
Jonathan de Fallois, T. Sieckmann, Ria Schönauer, Friederike Petzold +16 more
2024Kidney International Reports6 citations Open access
Semantic Scholar
Integrated Use of Autosomal Dominant Polycystic Kidney Disease Prediction Tools for Risk Prognostication
Constantin A. Wolff, V. Aiello, Elhussein A. E. Elhassan, C. Cristalli +20 more
2024American Society of Nephrology. Clinical Journal6 citations
Semantic Scholar
Mechanisms of pathogenicity and the quest for genetic modifiers of kidney disease in branchiootorenal syndrome
Sebastian Sewerin, Charlotte Aurnhammer, Cene Skubic, Kaja Blagotinšek Cokan +8 more
2023Clinical Kidney Journal6 citations Open access
Semantic Scholar
The Impact of Adrenomedullin Thr22 on Selectivity within the Calcitonin Receptor‐like Receptor/Receptor Activity‐Modifying Protein System
J. Fischer, Sylvia Els-Heindl, Ria Schönauer, D. Bierer +3 more
2018ChemMedChem6 citations Open access
Semantic Scholar
Deleterious Impact of a Novel CFH Splice Site Variant in Atypical Hemolytic Uremic Syndrome
Ria Schönauer, Anna Seidel, M. Grohmann, T. Lindner +2 more
2019Frontiers in Genetics5 citations Open access
Semantic Scholar
In vivo base editing reduces liver cysts in autosomal dominant polycystic kidney disease
Antonia Ibel, R. Bhardwaj, D. E. Yilmaz, Shu-Han Kong +14 more
2025Molecular Therapy4 citations Open access
Semantic Scholar
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis
A. Majmundar, E. Widmeier, J. Heneghan, Ankana Daga +23 more
2022Genetics in Medicine3 citations Open access
Semantic Scholar
Structure-Activity Analysis Reveals Perturbed Cilia-Jun N-Terminal Kinase Signaling in MAPKBP1-Associated Kidney Disease
Christin Findeisen, Maria Papazian, Linda Pöschla, Anastasia Ertel +15 more
2025Kidney International Reports2 citations Open access
Semantic Scholar
Autosomal dominant polycystic kidney disease in absence of renal cyst formation illustrates genetic interaction between WT1 and PKD1
Johannes Münch, K. Kirschner, H. Schlee, C. Kraus +5 more
2020Journal of Medical Genetics2 citations
Semantic Scholar
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease
Elhussein A. E. Elhassan, Kane E. Collins, Sophia Heneghan, E. Gilbert +83 more
2025JN. Journal of Nephrology (Milano. 1992)1 citations Open access
Semantic Scholar
Delta weight loss unlike genetic variation associates with hyperoxaluria after malabsorptive bariatric surgery
Lotte Scherer, Ria Schönauer, Melanie Nemitz-Kliemchen, T. Hagemann +5 more
2023Scientific Reports1 citations Open access
Semantic Scholar
Clinical and Functional Assessment of Digenicity in Renal Phosphate Wasting
Friederike Petzold, Ria Schönauer, A. Werner, J. Halbritter
2023Nutrients1 citations Open access
Semantic Scholar
The risk of nephrotic range proteinuria and kidney failure in primary laminopathies is genotype specific
Sebastian Sewerin, Charlotte Aurnhammer, Mohamed Hamed, Gwladys Revêchon +28 more
2026JCI Insight0 citations Open access
Semantic Scholar
Base Editing as a Therapeutic Strategy for Autosomal Dominant Tubulointerstitial Kidney Disease caused by Pathogenic UMOD Variants
Nora Diederich, Sarah Wendlinger, Shu-Han Kong, Dimitra Papaioannou +15 more
2026bioRxiv0 citations
Semantic Scholar
#1375 Correlating symptom burden with polycystic liver volume progression in autosomal dominant polycystic kidney disease
Carolin B. Brigl, Julia S. Münster, Constantin A. Wolff, R. Schmidt +5 more
2025Nephrology, Dialysis and Transplantation0 citations
Semantic Scholar
Valosin-Containing Protein (VCP) in Cilia Morphology: a novel target in ADPKD.
C. Pioppini, R. Bhardwaj, Ria Schönauer, J. Halbritter +5 more
2025AJP - Renal Physiology0 citations Open access
Semantic Scholar
#1624 Evaluating the real-world efficacy and safety of Tolvaptan in autosomal dominant polycystic kidney disease—a single center long-term observation
Julia S. Münster, Carolin B. Brigl, Constantin A. Wolff, Marco Klose +3 more
2025Nephrology, Dialysis and Transplantation0 citations
Semantic Scholar
#5496 EVALUATION OF THE PREDICTIVE ABILITY AND CONCORDANCE OF PROGNOSTIC SCORES FOR RAPID PROGRESSION IN ADPKD: A MULTICENTER COHORT
V. Aiello, Elhussein A. E. Elhassan, C. Cristalli, Andreina Minicucci +12 more
2023Nephrology, Dialysis and Transplantation0 citations Open access
Semantic Scholar
Combined Consideration of Sex, Genotype, and Total Liver Volume Progression Determines the Risk of Hospitalization in an International Multicenter Cohort of Autosomal Dominant Polycystic Liver Disease
Dana Sierks, Ria Schönauer, Melissa M. Boerrigter, Tabinda Jawaid +14 more
2023Journal of the American Society of Nephrology0 citations
Semantic Scholar
MO047: Biallelic pathogenic variants in ROBO1 associate with syndromic CAKUT
Johannes Münch, Marie Engesser, Ria Schönauer, J. Hamm +18 more
2022Nephrology, Dialysis and Transplantation0 citations
Semantic Scholar
FC 014INFLUENCE OF GENETIC VARIATION IN SLC7A13/AGT1 IN HUMAN CYSTINURIA
Ria Schönauer, Ann-Katrin Seidel, Linda Pöschla, Elena Hantmann +5 more
20210 citations
Semantic Scholar
MO049FUNCTIONAL IMPORTANCE OF MAPKBP1 PROTEIN DOMAINS IN NEPHRONOPHTHISIS
Christine Hartig, Ria Schönauer, Sebastian Sewerin, Anastasia Ertel +5 more
20210 citations
Semantic Scholar
KidneyNetwork Uses Kidney-Derived Gene Expression Data to Predict and Prioritize Novel Genes Involved in Kidney Disease
L. Claus, F. Boulogne, H. Wiersma, R. Oelen +12 more
2021Journal of the American Society of Nephrology0 citations
Semantic Scholar
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes
Ria Schönauer, Sebastian Baatz, Melanie Nemitz-Kliemchen, V. Frank +7 more
2020Genetics in Medicine0 citations Open access
Semantic Scholar
P0071MOLECULAR ALTERATIONS AND THE SEARCH FOR GENETIC MODIFIERS IN BRANCHIOOTORENAL SYNDROME
Sebastian Sewerin, K. Dittrich, Ria Schönauer, B. Mayer +1 more
20200 citations
Semantic Scholar
SP004CHARACTERIZATION OF A NOVEL MAPKBP1 MUTATION CAUSING LATE-ONSET CILIA-INDEPENDENT NEPHRONOPHTHISIS
Ria Schönauer, Anna Seidel, Daniela A. Braun, R. Sandford +3 more
20170 citations
Semantic Scholar
Cover Picture: Development of Potent and Metabolically Stable APJ Ligands with High Therapeutic Potential (ChemMedChem 21/2016)
Cathleen Juhl, Sylvia Els-Heindl, Ria Schönauer, G. Redlich +6 more
20160 citations Open access
Semantic Scholar

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