🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Verena Klämbt

Berlin Institute of Health at Charité - Universitätsmedizin Berlin

ORCID: 0000-0003-1180-0794

Also affiliated with Charité - Universitätsmedizin Berlin

MedicineBiochemistry, Genetics and Molecular Biology

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 11 papers. Top paper: “De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis”.

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.008

N/A

1.2DataRank · unranked

27 citations

Amar J. Majmundar, Kamal Khan, Tze Yin Lim, Shirlee Shril, Gina Jin +62 more

Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

Journal of Allergy and Clinical Immunology(2021)10.1016/j.jaci.2021.03.045

N/A

0.672DataRank · unranked

87 citations

Janet Chou, Laura Faletti, Veronika Haunerdinger, Lennart Opitz, Pascal Joset +55 more

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

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome

Journal of the American Society of Nephrology(2021)10.1681/asn.2020040490

N/A

0.505DataRank · unranked

28 citations

Slim Mzoughi, Ronen Schneider, Susanne J. Kühl, Denny Schanze, Verena Klämbt +38 more

Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans

Nephrology Dialysis Transplantation(2020)10.1093/ndt/gfaa215

N/A

0.292DataRank · unranked

6 citations

Max Werth, Ana C. Onuchic-Whitford, Maike Getwan, Thomas M. Kitzler, Friedhelm Hildebrandt +15 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

Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype

The Nephron journals/Nephron journals(2025)10.1159/000549598

N/A

0DataRank · unranked

0 citations

Rozemarijn Snoek, Siebren Faber, Aurelius J.C. Roskothen-Shevchuk, Elena Sendino Garví, Edith Peters +30 more

Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

Kidney International Reports(2020)10.1016/j.ekir.2020.10.040

N/A

0DataRank · unranked

11 citations

Ronen Schneider, Peter F. M. van der Ven, Marvin Aßent, Keerthika Lohanadan, Verena Klämbt +24 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

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs

Journal of the American Society of Nephrology(2022)10.1681/asn.2022010050

N/A

0DataRank · unranked

8 citations

Friedhelm Hildebrandt, Chunyan Wang, Thomas Naert, Karin Richter, Theresa Nauth +28 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