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

Tjitske Kleefstra

Radboud University Nijmegen

ORCID: 0000-0002-0956-0237

Also affiliated with Erasmus MC, University Medical Center, Radboud University Medical Center, Vincent Van Gogh Voor Geestelijke Gezondheidszorg, Erasmus University Rotterdam

Biochemistry, 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 4%percentile

0.893Author DataRank

Indexed papers

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals

Journal of Medical Genetics(2024)10.1136/jmg-2023-109702

Top 38%

0.503DataRank

Top 38%16 citations

Milou G. P. Kennis, Dmitrijs Rots, Arianne Bouman, Joost Kummeling, Elizabeth E. Palmer +12 more

Papers

Driven by 14 papers — median percentile 58. Top paper: “PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework”.

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

Nature Genetics(2023)10.1038/s41588-023-01469-w

N/A

0.655DataRank · unranked

78 citations

Max Hinne, Kim M. G. Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw +28 more

The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects

Science Advances(2021)10.1126/sciadv.abe2626

N/A

0.581DataRank · unranked

47 citations

Naihua N. Gong, Samuel J. Belfer, Lara V. van Renssen, Evangeline C. Kurtz‐Nelson, Milán Szuperák +16 more

Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals

Journal of Medical Genetics(2024)10.1136/jmg-2023-109702

Top 38%

0.503DataRank

Top 38%16 citations

Milou G. P. Kennis, Dmitrijs Rots, Arianne Bouman, Joost Kummeling, Elizabeth E. Palmer +12 more

Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome

Clinical Genetics(2025)10.1111/cge.14697

Top 47%

0.390DataRank

Top 47%9 citations

Seyda Kilic, Hailey Osika, Alisa Mo, Meg Quinn, Sonia Ballal +11 more

PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

medRxiv(2022)10.1101/2022.10.24.22281480

N/A

0.292DataRank · unranked

6 citations

Max Hinne, Kim M. G. Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw +26 more

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Nature Communications(2025)10.1038/s41467-025-64838-5

N/A

0.241DataRank · unranked

4 citations

Keqin Yan, Raissa Relator, Mathieu Lévesque, P.S. Jayasinghe, Sara Timpano +61 more

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Research Square(2023)10.21203/rs.3.rs-3317938/v1

N/A

0.241DataRank · unranked

4 citations

Ghayda Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Binnaz Yalcin +57 more

Variants in CUL4B are Associated with Cerebral Malformations

UNC Libraries(2020)10.17615/wkgc-ft42

N/A

0.208DataRank · unranked

3 citations

Krysta Voesenek, Michèl A.A.P. Willemsen, Ewa Obersztyn, Yue Xiong, Bert B.A. de Vries +24 more

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Nature Genetics(2023)10.1038/s41588-023-01424-9

N/A

0DataRank · unranked

37 citations

Silvio Alessandro Di Gioia, Bryn D. Webb, Wai‐Man Chan, Elke de Boer, Sarah J. Garnai +53 more

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.007

N/A

0DataRank · unranked

40 citations

Meriel McEntagart, Jill Clayton‐Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha +77 more

KMT2D haploinsufficiency in Kabuki syndrome disrupts neuronal function through transcriptional and chromatin rewiring independent of H3K4-monomethylation

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.04.22.440945

N/A

0DataRank · unranked

13 citations

Alessandro Vitriolo, Sara Cuvertino, Marlene F. Pereira, Celeste Franconi, Pierre‐Luc Germain +21 more

Damaging de novo missense variants inEEF1A2lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy

Human Mutation(2020)10.1002/humu.24015

N/A

0DataRank · unranked

40 citations

Katherine L. Helbig, Candace T. Myers, Marcello Scala, Robert Huether, Sara A. Lewis +40 more

Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link

EP Europace(2023)10.1093/europace/euae003

N/A

0DataRank · unranked

7 citations

Tanja Zdolšek Draksler, Arianne Bouman, Joost Kummeling, Matthew T. Wheeler, Chloe Reuter +9 more

POU3F3 ‐related disorder: Defining the phenotype and expanding the molecular spectrum

Clinical Genetics(2023)10.1111/cge.14353

N/A

0DataRank · unranked

6 citations

Lot Snijders Blok, Sonja Neuser, Chiara Klöckner, Konrad Platzer, Laurence Faivre +38 more