M. Mahdi Motazacker

Also affiliated with University of Amsterdam

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 5 papers. Top paper: “Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications”.

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

Brain(2021)10.1093/brain/awab321

N/A

2.9DataRank · unranked

149 citations

Yuanyuan Liu, Mahmoud Koko, Cathrine E. Gjerulfsen, Lukas Sonnenberg, Julian Schubert +95 more

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Human Genetics(2021)10.1007/s00439-021-02283-2

N/A

0DataRank · unranked

36 citations

Daphné Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person +40 more

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

medRxiv(2021)10.1101/2021.03.22.21253711

N/A

0DataRank · unranked

5 citations

Yuanyuan Liu, Cathrine E. Gjerulfsen, Mahmoud Koko, Lukas Sonnenberg, Julian Schubert +95 more

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Journal of Clinical Investigation(2023)10.1172/jci171235

N/A

0DataRank · unranked

44 citations

Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch +95 more

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

Journal of Clinical Investigation(2025)10.1172/jci184474

N/A

0DataRank · unranked

0 citations

Stéphanie Efthymiou, Christopher J. Record, Xinyu Miao, Renee Q. Lin, J. Parmar +76 more