Hilde Van Esch

Biochemistry, Genetics and Molecular BiologyEconomics, Econometrics and FinanceMedicine

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 7 papers. Top paper: “De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity”.

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.08.015

N/A

0DataRank · unranked

43 citations

Tonya Moss, Hannah W. Moore, Koenraad Devriendt, Heather Flanagan‐Steet, Melanie May +15 more

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

medRxiv(2022)10.1101/2022.10.24.22281480

N/A

0DataRank · unranked

6 citations

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

0DataRank · unranked

77 citations

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

Developmental epileptic encephalopathy in DLG4‐related synaptopathy

Epilepsia(2023)10.1111/epi.17876

N/A

0DataRank · unranked

15 citations

Amanda M. Levy, Elena Gardella, Ángel Aledo‐Serrano, Amitha Ananth, Alejandro Brea‐Fernández +59 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

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.018

N/A

0DataRank · unranked

6 citations

Laura Harrold, Daniel G. Calame, Claire Salter, Takashi Kikuma, Kevin P. Guay +49 more

Genotype-Phenotype Correlation in RBM10-Associated Syndromes – How Variant Function Shapes a Broad Phenotypic Landscape

medRxiv(2025)10.1101/2025.08.05.25330579

N/A

0DataRank · unranked

0 citations

Christina Fagerberg, Thomas Koed Doktor, Mia M. Rosenlund, Santiago M. Lumbreras, Mark Burton +70 more