Anneke T. Vulto‐van Silfhout

Also affiliated with Radboud University Medical Center

Biochemistry, Genetics and Molecular BiologyNeuroscience

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: “Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort”.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Genetics in Medicine(2022)10.1016/j.gim.2022.04.010

N/A

0DataRank · unranked

21 citations

Marieke Joosten, Caroline Alby, Tania Attié‐Bitach, Kelly L. Gilmore, Christèle Dubourg +50 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

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias

Human Molecular Genetics(2024)10.1093/hmg/ddae166

N/A

0DataRank · unranked

8 citations

Chian Ju Jong, Ronald A. Merrill, Grace J Kollman, Austin H Paden, Eric G. Bend +10 more

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias

UNC Libraries(2024)10.17615/43a6-jz46

N/A

0DataRank · unranked

1 citations

Jennifer A. Sullivan, Ronald A. Merrill, Rolph Pfundt, Louise S. Bicknell, Priyanka Sandal +10 more

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

Genetics in Medicine(2025)10.1016/j.gim.2025.101513

N/A

0DataRank · unranked

1 citations

Ingrid M. Jazet, Suzanne Yzer, Jeroen Pas, Serwet Demirdas, Elisabeth F. C. van Rossum +39 more