Bert B.A. de Vries

Also affiliated with Radboud University Medical Center

Biochemistry, Genetics and Molecular BiologyAgricultural and Biological Sciences

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 1%percentile

5.5Author DataRank

Indexed papers

4in 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 4 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.

The Human Phenotype Ontology in 2024: phenotypes around the world

Nucleic Acids Research(2023)10.1093/nar/gkad1005

Top 6%

3.9DataRank

Top 6%387 citations

Nicolas A Matentzoglu, Ben D Coleman, Eunice B Addo-Lartey, Anna V. Anagnostopoulos, Joel Anderton +95 more

Papers

Driven by 21 papers — median percentile 80. Top paper: “The Human Phenotype Ontology in 2024: phenotypes around the world”.

The Human Phenotype Ontology in 2024: phenotypes around the world

Nucleic Acids Research(2023)10.1093/nar/gkad1005

Top 6%

3.9DataRank

Top 6%387 citations

Nicolas A Matentzoglu, Ben D Coleman, Eunice B Addo-Lartey, Anna V. Anagnostopoulos, Joel Anderton +95 more

Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical information

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62057

Top 20%

0.991DataRank

Top 20%21 citations

Diante E. Stremmelaar, Lisenka E.L.M. Vissers, Sandra Jansen, Maria João Nabais Sá, Angela van Remortele +11 more

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

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

European Journal of Human Genetics(2024)10.1038/s41431-024-01701-z

Top 34%

0.572DataRank

Top 34%16 citations

Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek +69 more

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

European Journal of Human Genetics(2022)10.1038/s41431-021-00960-4

N/A

0.557DataRank · unranked

40 citations

Kim M. G. Truijen, Jung‐Hyun Kim, Zahide Alaçam, Laurence Faivre, Kathleen M. Collins +20 more

Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases

EBioMedicine(2025)10.1016/j.ebiom.2025.105957

N/A

0.360DataRank · unranked

10 citations

J. Harry Caufield, Yasemin Bridges, Nicolas A Matentzoglu, Michael Gargano, Mario Cazalla +25 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

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

Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

medRxiv(2020)10.1101/2020.09.09.20187104

N/A

0DataRank · unranked

9 citations

Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels +71 more

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63226

N/A

0DataRank · unranked

10 citations

Siddharth Srivastava, Pankaj B. Agrawal, Tuğçe B. Balcı, Bert Callewaert, Pier Luigi Calvo +35 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

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

Human Genetics and Genomics Advances(2020)10.1016/j.xhgg.2020.100016

N/A

0DataRank · unranked

14 citations

Jessica L. Giordano, Inge B. Mathijssen, Majid Mojarrad, Dorien Lugtenberg, Caitlin V. Miller +15 more

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63559

N/A

0DataRank · unranked

7 citations

Angela Morgan, Meghan N. Bartos, Katelyn Beatty, Benjamin Cogné, Dominique Braun +27 more

ARID1B-related disorder in 87 adults: Natural history and self-sustainability

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101873

N/A

0DataRank · unranked

6 citations

M. Gösgens, Alexander J.M. Dingemans, P. Striano, Antonella Riva, C. Mignot +81 more

YY1 mutations disrupt corticogenesis through a cell-type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.02.16.580337

N/A

0DataRank · unranked

1 citations

Veronica Finazzi, Ludovico Rizzuti, Davide Aprile, Vittorio Aiello, Luca Mollica +13 more

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

UNC Libraries(2024)10.17615/2254-fj45

N/A

0DataRank · unranked

0 citations

Rolph Pfundt, Birgit Elisabeth Kristiansen, Mary J. Green, Sally Ann Lynch, Amanda Openshaw +67 more

YY1 mutations disrupt corticogenesis through a cell type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs

Molecular Psychiatry(2025)10.1038/s41380-025-02929-x

N/A

0DataRank · unranked

6 citations

Veronica Finazzi, Ludovico Rizzuti, Davide Aprile, Vittorio Aiello, Luca Mollica +13 more

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Genetics in Medicine(2021)10.1038/s41436-021-01114-z

N/A

0DataRank · unranked

93 citations

Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels +76 more

De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus

Human Molecular Genetics(2020)10.1093/hmg/ddaa270

N/A

0DataRank · unranked

23 citations

Alexandra N. Olson, Grace Yoon, Graeme Nimmo, Christopher M. Gómez, Michèl A.A.P. Willemsen +7 more

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.015

N/A

0DataRank · unranked

93 citations

Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andrés Hernández, Lucia Pedace +95 more

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

medRxiv(2021)10.1101/2021.09.06.21262776

N/A

0DataRank · unranked

8 citations

Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek +64 more

Bert B.A. de Vries

Indexed papers

Top data-sharing exemplar

Papers