Olivier Vanakker

Biochemistry, Genetics and Molecular BiologyMedicine

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: “The pathogenic p.R391G ABCC6 displays incomplete penetrance implying the necessity of an interacting partner for the development of pseudoxanthoma elasticum”.

The pathogenic p.R391G ABCC6 displays incomplete penetrance implying the necessity of an interacting partner for the development of pseudoxanthoma elasticum

medRxiv(2020)10.1101/2020.11.26.20236489

N/A

0DataRank · unranked

3 citations

Ágnes Mikó, Nastassia Navasiolava, Ambrus Kaposi, Shana Verschuere, Qiaoli Li +10 more

The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals

Human Mutation(2022)10.1002/humu.24498

N/A

0DataRank · unranked

13 citations

Ágnes Mikó, Nastassia Navasiolava, Ambrus Kaposi, Shana Verschuere, Beatrix Molnar +11 more

C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

Acta Neuropathologica(2023)10.1007/s00401-023-02565-1

N/A

0DataRank · unranked

24 citations

Nika Schuermans, Antoon Meylemans, Pontus LeBlanc, Lauren Versluys, Katie E. Copley +17 more

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.013

N/A

0DataRank · unranked

25 citations

Eva Jacobs, Lies Vantomme, Pontus LeBlanc, Elke Bogaert, Annelies Dheedene +95 more

TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies

Journal of Medical Genetics(2024)10.1136/jmg-2023-109799

N/A

0DataRank · unranked

2 citations

Enrico Mingardo, Jil D. Stegmann, Ramgopal Dhakar, Tikam Chand Dakal, Jill A. Rosenfeld +34 more

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology(2025)10.1002/ana.27272

N/A

0DataRank · unranked

8 citations

María Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual +75 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