Thomas Smol

Université de Pau et des Pays de l'Adour

Also affiliated with Université de Lille, Centre Hospitalier Universitaire de Lille, Technologie Médicale (France), Hôpital Jeanne de Flandre, Centre Oscar Lambret, Groupe Hospitalier de l'Institut Catholique de Lille, Hôpital Fontmaure

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 13 papers. Top paper: “NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns”.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Genetics in Medicine(2020)10.1038/s41436-020-00988-9

N/A

0DataRank · unranked

56 citations

Trine Bjørg Hammer, Elena Gardella, Danique R.M. Vlaskamp, Birgitte Bertelsen, Simone Mandelstam +80 more

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

European Journal of Human Genetics(2020)10.1038/s41431-020-0571-6

N/A

0DataRank · unranked

38 citations

Sophie Nambot, Laurence Faivre, Ghayda Mirzaa, Julien Thévenon, Ange‐Line Bruel +60 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

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Genetics in Medicine(2022)10.1016/j.gim.2022.02.013

N/A

0DataRank · unranked

36 citations

Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael A. Levy, Sadegheh Haghshenas +95 more

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

Neurology(2022)10.1212/wnl.0000000000201492

N/A

0DataRank · unranked

24 citations

Lynette G. Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell +50 more

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

medRxiv(2022)10.1101/2022.04.26.22274147

N/A

0DataRank · unranked

0 citations

Lynette G. Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell +49 more

Brain malformations and seizures by impaired chaperonin function of TRiC

Science(2024)10.1126/science.adp8721

N/A

0DataRank · unranked

24 citations

Piere Rodriguez-Aliaga, Weimin Yuan, Lena Franken, Kamil K. Zajt, Dimah Hasan +82 more

Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Annals of Neurology(2024)10.1002/ana.27077

N/A

0DataRank · unranked

10 citations

Frédéric Ebstein, Tzung‐Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C. Herkert +74 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

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism

European Journal of Human Genetics(2024)10.1038/s41431-024-01759-9

N/A

0DataRank · unranked

3 citations

Luisa Marsili, Domizia Pasquetti, Abolfazl Rad, Muhammad Nadeem Anjum, Gabriela Oprea +9 more

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome

Genetics in Medicine(2024)10.1016/j.gim.2024.101267

N/A

0DataRank · unranked

1 citations

A.‐S. Jourdain, Frédéric Frénois, Emilie Ait‐Yahya, Mike Bamshad, Anne Dieux +10 more

LONP1 Variants Are Associated With Clinically Diverse Phenotypes

Clinical Genetics(2025)10.1111/cge.70057

N/A

0DataRank · unranked

1 citations

Lu Qiao, Rebecca Hernan, David A. Sweetser, Jessica L. Waxler, Daryl A. Scott +34 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