Jeanne Amiel

Also affiliated with Inserm, Université Paris Cité, Assistance Publique – Hôpitaux de Paris

MedicineBiochemistry, 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

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Papers

Driven by 15 papers. Top paper: “Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome)”.

Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome)

Clinical Dysmorphology(1998)10.1097/00019605-199801000-00003

N/A

0.692DataRank · unranked

100 citations

Peter M. Watkin, Mayada Tassabehji, Andrew P. Read, Robin M. Winter, Jeanne Amiel

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Nature Communications(2021)10.1038/s41467-021-22627-w

N/A

0.598DataRank · unranked

53 citations

Deepa Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee +65 more

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.04.010

N/A

0.538DataRank · unranked

35 citations

Yunia Sribudiani, Xiaomin Dong, Céline Huber, Chelsea Kois, Geneviève Baujat +27 more

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

European Journal of Human Genetics(2023)10.1038/s41431-023-01434-5

N/A

0.494DataRank · unranked

26 citations

Leticia S. Matsuoka, Michael March, Dong Li, Elly Brokamp, Sara Benito‐Sanz +32 more

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

Nature Communications(2024)10.1038/s41467-024-45948-y

N/A

0.412DataRank · unranked

8 citations

Geneva LaForce, Anshika Srivastava, Delia Perillo, Shaokun Li, Katherine Johnson +25 more

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency

Human Molecular Genetics(2022)10.1093/hmg/ddac098

N/A

0.345DataRank · unranked

9 citations

Anna Lena Burgemeister, Vincent Cantagrel, Jeanne Amiel, Karine Siquier-Pernet, Nathalie Boddaert +16 more

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61615

N/A

0DataRank · unranked

35 citations

Randall A. Bly, Natalie Wu, Catherine M. Albert, Julie Park, Joseph T.C. Shieh +26 more

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome

Research Square(2023)10.21203/rs.3.rs-2126145/v1

N/A

0DataRank · unranked

0 citations

Geneva LaForce, Anshika Srivast, Delia Perillo, Katherine Johnson, Brandon A. Berger +24 more

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

Science(2024)10.1126/science.adf5489

N/A

0DataRank · unranked

48 citations

Sabrina Méchaussier, Patricia L. Yeyati, Fraser McPhie, Jacob R. Anderson, Chen Jing Khoo +75 more

The spectrum of heart defects in the TRAF7 -related multiple congenital anomalies-intellectual disability syndrome

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2317601121

N/A

0DataRank · unranked

4 citations

Chiara De Luca, Francesco Brancati, Rossana Sanchez Russo, Dong Li, Elizabeth Bhoj +29 more

Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics

EBioMedicine(2025)10.1016/j.ebiom.2025.105677

N/A

0DataRank · unranked

6 citations

Hannah Klinkhammer, Sanaa Choufani, Nikola Reko, Angela K Christman, Elise Pisan +36 more

INTS13 Mutations Causing a Developmental Ciliopathy Disrupt Integrator Complex Assembly

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.07.20.209130

N/A

0DataRank · unranked

5 citations

Mohammad Shboul, Nathan D. Elrod, Laurence Colleaux, Hanan Hamamy, Kai-Lieh Huang +20 more

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.007

N/A

0DataRank · unranked

40 citations

Meriel McEntagart, Jill Clayton‐Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha +77 more

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

Human Molecular Genetics(2020)10.1093/hmg/ddaa258

N/A

0DataRank · unranked

26 citations

Annabelle Enriquez, Duncan B. Sparrow, David T. Humphreys, Aideen McInerney‐Leo, Paul Leo +29 more

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Nature Communications(2021)10.1038/s41467-021-21053-2

N/A

0DataRank · unranked

65 citations

Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino +19 more