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

Konstantin Deutsch

Boston Children's Hospital

ORCID: 0000-0003-2952-5030

Also affiliated with Harvard University

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 8 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

Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease

Proceedings of the National Academy of Sciences(2021)10.1073/pnas.2106770118

N/A

0.757DataRank · unranked

31 citations

Anselm Hoppmann, Pascal Schlosser, Kelli Grand, Weiting Song, R. Diehl +8 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 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

CRISPR/Cas9 targeting Ttc30a mimics ciliary chondrodysplasia with polycystic kidney disease

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.11.27.400994

N/A

0DataRank · unranked

0 citations

Anselm Hoppmann, Pascal Schlosser, Kelli Grand, Weiting Song, R. Diehl +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

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