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

Thomas M. Kitzler

McGill University Health Centre

ORCID: 0009-0006-1537-5237
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 9 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

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

Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62644
N/A
0.312DataRank · unranked
7 citations

Steve Seltzsam, Bixia Zheng, Chen‐Han Wilfred Wu, Camille Nicolas‐Frank, Kirollos Yousef +23 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

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

Epigenomic and phenotypic characterization of DEGCAGS syndrome

European Journal of Human Genetics(2024)10.1038/s41431-024-01702-y
N/A
0DataRank · unranked
6 citations

Denisa Weis, Ingvild Aukrust, Tzung‐Chien Hsieh, Marie Horackova, Julie Paulsen +37 more