Marie‐Line Jacquemont

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: “High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard–Soulier syndrome in French patients from the genetic isolate of Reunion Island”.

High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard–Soulier syndrome in French patients from the genetic isolate of Reunion Island

British Journal of Haematology(2020)10.1111/bjh.16479

N/A

0DataRank · unranked

4 citations

Céline de Thoré, Hanitra Randrianaivo‐Ranjatoelina, Marie‐Jeanne Baas, Marie‐Line Jacquemont, Marie Dreyfus +6 more

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

Genetics in Medicine(2023)10.1016/j.gim.2023.100856

N/A

0DataRank · unranked

9 citations

Nicolas Chassaing, Nicola Ragge, Felix Boschann, Angelina My-Hoa Ngu, Elisabeth Meloche +49 more

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.015

N/A

0DataRank · unranked

7 citations

Cailyn P Leo, Chenghong Deng, Sheng‐Jia Lin, Reza Maroofian, Reneé C. Lin +95 more

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

medRxiv(2024)10.1101/2024.07.18.24310581

N/A

0DataRank · unranked

1 citations

Cailyn P Leo, Chenghong Deng, Kejia Zhang, Sheng‐Jia Lin, Reza Maroofian +75 more

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

medRxiv(2025)10.1101/2025.04.08.25325442

N/A

0DataRank · unranked

13 citations

Hyung Chul Kim, Ayanfeoluwa Adedeji, Elsa Leitão, Ruebena Dawes, Yuyang Chen +37 more

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

medRxiv(2025)10.1101/2025.08.13.25333306

N/A

0DataRank · unranked

5 citations

Alexander J. M. Blakes, Yuyang Chen, Joachim De Jonghe, Javeria Raza Alvi, Florence Amblard +69 more