Bregje W.M. van Bon

Also affiliated with Radboud University Medical Center

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 5 papers. 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

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Journal of Clinical Investigation(2023)10.1172/jci165019

N/A

0.568DataRank · unranked

43 citations

Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi +80 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

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

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