Arthur Sorlin

Biochemistry, Genetics and Molecular Biology

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 8 papers. Top paper: “Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects”.

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.001

N/A

0.515DataRank · unranked

30 citations

Antonio Vitobello, Stephan C. Collins, Valerie E. Vancollie, Christopher J. Lelliott, Lance H. Rodan +25 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

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Genetics in Medicine(2021)10.1038/s41436-021-01218-6

N/A

0DataRank · unranked

17 citations

Thierry Gautier, Dana Marafi, Thomas Besnard, Marjolaine Willems, Sébastien Moutton +37 more

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

Brain(2022)10.1093/brain/awac330

N/A

0DataRank · unranked

32 citations

Gilles Tossing, Fred Mulroe, Callum Simmons, Kameryn M. Butler, Alison Schreiber +51 more

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

Communications Biology(2024)10.1038/s42003-024-06466-1

N/A

0DataRank · unranked

12 citations

Tehmeena Akhter, Petter Strømme, Doriana Misceo, Amjad Khan, Eirik Frengen +17 more

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

Nature Communications(2024)10.1038/s41467-024-52095-x

N/A

0DataRank · unranked

9 citations

Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan +53 more

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Nature Communications(2025)10.1038/s41467-025-65556-8

N/A

0DataRank · unranked

3 citations

Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati, Tzung‐Chien Hsieh, Lise Bray +95 more

Newly Identified TPI Deficiency Treatments Function for Novel Disease-Causing Allele, TPI1R5G

Genes(2025)10.3390/genes16101205

N/A

0DataRank · unranked

0 citations

Presley Roberts, Riley Sawka, Maci Chambers, M. Bravi Claudio, Laura L. Vollmer +10 more