Caroline M. Kolvenbach

Also affiliated with Heidelberg University, University Hospital Heidelberg

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 16 papers. Top paper: “Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice”.

Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice

Science Advances(2021)10.1126/sciadv.abe1386

N/A

0.524DataRank · unranked

32 citations

Friedhelm Hildebrandt, Thomas Forbes, Verena Klämbt, Ronen Schneider, Konstantin Deutsch +34 more

Risk of meningomyelocele mediated by the common 22q11.2 deletion

Science(2024)10.1126/science.adl1624

N/A

0.464DataRank · unranked

21 citations

Sangmoon Lee, Kit Sing Au, T. Blaine Crowley, Valeria Capra, Meade Haller +74 more

The contribution of de novo coding mutations to meningomyelocele

Nature(2025)10.1038/s41586-025-08676-x

N/A

0.396DataRank · unranked

13 citations

Ashna Nisal, Isaac Tang, Chanjae Lee, Ishani Jhamb, Cassidy Wallace +74 more

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome

Genes & Diseases(2024)10.1016/j.gendis.2024.101280

N/A

0.208DataRank · unranked

3 citations

Shirlee Shril, Friedhelm Hildebrandt, Konstantin Deutsch, Kirollos Yousef, Camille Nicolas Frank +38 more

A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63127

N/A

0.208DataRank · unranked

3 citations

Bixia Zheng, Lea M. Merz, Nils D. Mertens, Bshara Mansour, Chunyan Wang +10 more

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort

Kidney International Reports(2025)10.1016/j.ekir.2025.07.011

N/A

0.104DataRank · unranked

1 citations

Mohamed A. Shalaby, Elena Zion, Ken Saida, Kirollos Yousef, Ronen Schneider +18 more

Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type

Scientific Reports(2024)10.1038/s41598-024-64883-y

N/A

0DataRank · unranked

0 citations

Nils D. Mertens, Kirollos Yousef, Ronen Schneider, Lea M. Merz, Bshara Mansour +12 more

Phenotypic quantification of Nphs1-deficient mice

Journal of Nephrology(2024)10.1007/s40620-024-01987-8

N/A

0DataRank · unranked

0 citations

Bshara Mansour, Caroline M. Kolvenbach, Friedhelm Hildebrandt, Daanya Salmanullah, Katharina Lemberg +13 more

Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families

Genetics in Medicine(2025)10.1016/j.gim.2025.101432

N/A

0DataRank · unranked

5 citations

Caroline M. Kolvenbach, Chunyan Wang, Nils D. Mertens, Steve Seltzsam, Bshara Mansour +49 more

Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)

Genetics in Medicine(2020)10.1038/s41436-020-0844-z

N/A

0DataRank · unranked

22 citations

Nina Mann, Makiko Nakayama, Dervla M. Connaughton, Rufeng Dai, Caroline M. Kolvenbach +17 more

A kidney specific mouse model to study the effects of in vivo induction of Yamanaka factors

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.08.30.672899

N/A

0DataRank · unranked

0 citations

Gijs A. C. Franken, Korbinian M. Riedhammer, Selina Hölzel, Kirollos Yousef, Kraisoon Lomjansook +8 more

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.008

N/A

0DataRank · unranked

34 citations

Konstantin Deutsch, Gregory J. Hoeprich, Jonathan Marquez, Tobias Hermle, Daniela A. Braun +28 more

Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract

European Urology Open Science(2022)10.1016/j.euros.2022.08.004

N/A

0DataRank · unranked

12 citations

Tze Yin Lim, Chunyan Wang, Steve Seltzsam, Bixia Zheng, Luca Schierbaum +31 more

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems

Journal of Medical Genetics(2022)10.1136/jmg-2022-108738

N/A

0DataRank · unranked

7 citations

Tim Felger, Luca Schierbaum, Isabelle Thiffault, Tomi Pastinen, Maria Szczepańska +18 more

Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease

Pediatric Nephrology(2024)10.1007/s00467-024-06426-1

N/A

0DataRank · unranked

3 citations

Shirlee Shril, Bshara Mansour, Aaron Bao, Caroline M. Kolvenbach, Jameela A. Kari +5 more

Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease

Research Square(2024)10.21203/rs.3.rs-4183332/v1

N/A

0DataRank · unranked

1 citations

Shirlee Shril, Bshara Mansour, Aaron Bao, Caroline M. Kolvenbach, Sherif El Desoky +5 more