Carlo Marcelis

Also affiliated with Radboud University Nijmegen, Radboud University Medical Center

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 6 papers. Top paper: “An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy”.

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Brain(2020)10.1093/brain/awaa420

N/A

0DataRank · unranked

56 citations

Rauan Kaiyrzhanov, Yaqun Zou, Sahar Da’as, Reza Maroofian, Sandra Donkervoort +91 more

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

UNC Libraries(2020)10.17615/nh7z-zg10

N/A

0DataRank · unranked

1 citations

Kathryn F. Peters, Lewis B. Holmes, David J. Aughton, Laura Mazzanti, Kathleen A. Leppig +27 more

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Brain(2021)10.1093/brain/awab299

N/A

0DataRank · unranked

42 citations

Ban H. Edani, Simone Martinelli, Hana Hansíková, Erik A. Eklund, Caterina Caputi +45 more

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.03.002

N/A

0DataRank · unranked

42 citations

Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong +95 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

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